Citations for
1ATN1, ATXN2, HTT
Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease.
Keo A, Aziz NA, Dzyubachyk O, van der Grond J, van Roon-Mom WMC, Lelieveldt BPF, Reinders MJT, Mahfouz A.
Front Mol Neurosci 10:399. doi: 10.3389/fnmol.2017.00399. eCollection 2017. 2017
2HTT, ZDHHC13, ZDHHC17
Huntingtin interacting proteins 14 and 14-like are required for chorioallantoic fusion during early placental development.
Sanders SS, Hou J, Sutton LM, Garside VC, Mui KK, Singaraja RR, Hayden MR, Hoodless PA.
Dev Biol 397(2):257-66. doi: 10.1016/j.ydbio.2014.11.018. Epub 2014 Dec 3. 2015
3HTT
Huntingtin functions as a scaffold for selective macroautophagy.
Rui YN, Xu Z, Patel B, Chen Z, Chen D, Tito A, David G, Sun Y, Stimming EF, Bellen HJ, Cuervo AM, Zhang S.
Nat Cell Biol 17(3):262-75. doi: 10.1038/ncb3101. Epub 2015 Feb 16. 2015
4HD, HTT
Soluble N-terminal fragment of mutant Huntingtin protein impairs mitochondrial axonal transport in cultured hippocampal neurons.
Tian J, Yan YP, Zhou R, Lou HF, Rong Y, Zhang BR.
Neurosci Bull 30(1):74-80. doi: 10.1007/s12264-013-1393-0. Epub 2013 Dec 21. 2014
5HTT
Mutant huntingtin affects cortical progenitor cell division and development of the mouse neocortex.
Molina-Calavita M, Barnat M, Elias S, Aparicio E, Piel M, Humbert S.
J Neurosci 34(30):10034-40. doi: 10.1523/JNEUROSCI.0715-14.2014. 2014
6HTT
Huntingtin is required for normal excitatory synapse development in cortical and striatal circuits.
McKinstry SU, Karadeniz YB, Worthington AK, Hayrapetyan VY, Ozlu MI, Serafin-Molina K, Risher WC, Ustunkaya T, Dragatsis I, Zeitlin S, Yin HH, Eroglu C.
J Neurosci 34(28):9455-72. doi: 10.1523/JNEUROSCI.4699-13.2014. 2014
7HTT
Inhibition of mitochondrial protein import by mutant huntingtin.
Yano H, Baranov SV, Baranova OV, Kim J, Pan Y, Yablonska S, Carlisle DL, Ferrante RJ, Kim AH, Friedlander RM.
Nat Neurosci 17(6):822-31. doi: 10.1038/nn.3721. Epub 2014 May 18. 2014
8HTT
Huntingtin protein is essential for mitochondrial metabolism, bioenergetics and structure in murine embryonic stem cells.
Ismailoglu I, Chen Q, Popowski M, Yang L, Gross SS, Brivanlou AH.
Dev Biol 391(2):230-40. doi: 10.1016/j.ydbio.2014.04.005. Epub 2014 Apr 26. 2014
9HTT
Huntingtin regulates mammary stem cell division and differentiation.
Elias S, Thion MS, Yu H, Sousa CM, Lasgi C, Morin X, Humbert S.
Stem Cell Reports 2(4):491-506. doi: 10.1016/j.stemcr.2014.02.011. eCollection 2014 Apr 8. 2014
10HD, HTT
HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation.
Träger U, Andre R, Lahiri N, Magnusson-Lind A, Weiss A, Grueninger S, McKinnon C, Sirinathsinghji E, Kahlon S, Pfister EL, Moser R, Hummerich H, Antoniou M, Bates GP, Luthi-Carter R, Lowdell MW, Björkqvist M, Ostroff GR, Aronin N, Tabrizi SJ.
Brain 137(Pt 3):819-33. doi: 10.1093/brain/awt355. Epub 2014 Jan 22. 2014
11HD, HTT
A large scale Huntingtin protein interaction network implicates Rho GTPase signaling pathways in Huntington disease.
Tourette C, Li B, Bell R, O'Hare S, Kaltenbach LS, Mooney SD, Hughes RE.
J Biol Chem 289(10):6709-26. doi: 10.1074/jbc.M113.523696. Epub 2014 Jan 9. 2014
12HTT, MECP2
MeCP2: a novel Huntingtin interactor.
McFarland KN, Huizenga MN, Darnell SB, Sangrey GR, Berezovska O, Cha JH, Outeiro TF, Sadri-Vakili G.
Hum Mol Genet 23(4):1036-44. doi: 10.1093/hmg/ddt499. Epub 2013 Oct 8. 2014
13HAP1, HTT
The regulation of autophagosome dynamics by huntingtin and HAP1 is disrupted by expression of mutant huntingtin, leading to defective cargo degradation.
Wong YC, Holzbaur EL.
J Neurosci 34(4):1293-305. doi: 10.1523/JNEUROSCI.1870-13.2014. 2014
14HD, HTT
A role of mitochondrial complex II defects in genetic models of Huntington's disease expressing N-terminal fragments of mutant huntingtin.
Damiano M, Diguet E, Malgorn C, D'Aurelio M, Galvan L, Petit F, Benhaim L, Guillermier M, Houitte D, Dufour N, Hantraye P, Canals JM, Alberch J, Delzescaux T, Déglon N, Beal MF, Brouillet E.
Hum Mol Genet 22(19):3869-82. doi: 10.1093/hmg/ddt242. Epub 2013 May 29. 2013
15HTT, RASD2
Attenuation of Rhes activity significantly delays the appearance of behavioral symptoms in a mouse model of Huntington's disease.
Baiamonte BA, Lee FA, Brewer ST, Spano D, LaHoste GJ.
PLoS One 8(1):e53606. doi: 10.1371/journal.pone.0053606. Epub 2013 Jan 21. 2013
16HTT
Huntington disease arises from a combinatory toxicity of polyglutamine and copper binding.
Xiao G, Fan Q, Wang X, Zhou B.
Proc Natl Acad Sci U S A 110(37):14995-5000. doi: 10.1073/pnas.1308535110. Epub 2013 Aug 26. 2013
17HTT
Selective roles of normal and mutant huntingtin in neural induction and early neurogenesis.
Nguyen GD, Gokhan S, Molero AE, Mehler MF.
PLoS One 8(5):e64368. doi: 10.1371/journal.pone.0064368. Print 2013. 2013
18HTT, RASD2
The role of Rhes, Ras homolog enriched in striatum, in neurodegenerative processes.
Harrison LM, Lahoste GJ.
Exp Cell Res 319(15):2310-5. doi: 10.1016/j.yexcr.2013.03.033. Epub 2013 Apr 10. Review. 2013
19HD, HTT
Depletion of cognate charged transfer RNA causes translational frameshifting within the expanded CAG stretch in huntingtin.
Girstmair H, Saffert P, Rode S, Czech A, Holland G, Bannert N, Ignatova Z.
Cell Rep 3(1):148-59. doi: 10.1016/j.celrep.2012.12.019. Epub 2013 Jan 24. 2013
20HTT
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease.
Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D, Detloff PJ, Housman DE, Bates GP.
Proc Natl Acad Sci U S A 110(6):2366-70. doi: 10.1073/pnas.1221891110. Epub 2013 Jan 22. 2013
21HTT
An N-terminal nuclear export signal regulates trafficking and aggregation of Huntingtin (Htt) protein exon 1.
Zheng Z, Li A, Holmes BB, Marasa JC, Diamond MI.
J Biol Chem 288(9):6063-71. doi: 10.1074/jbc.M112.413575. Epub 2013 Jan 14. 2013
22HTT
The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal.
Maiuri T, Woloshansky T, Xia J, Truant R.
Hum Mol Genet 22(7):1383-94. doi: 10.1093/hmg/dds554. Epub 2013 Jan 7. 2013
23CALB2, HTT
Calretinin interacts with huntingtin and reduces mutant huntingtin-caused cytotoxicity.
Dong G, Gross K, Qiao F, Ferguson J, Callegari EA, Rezvani K, Zhang D, Gloeckner CJ, Ueffing M, Wang H.
J Neurochem 123(3):437-46. doi: 10.1111/j.1471-4159.2012.07919.x. Epub 2012 Sep 10. 2012
24HTT
Impaired heat shock response in cells expressing full-length polyglutamine-expanded huntingtin.
Chafekar SM, Duennwald ML.
PLoS One 7(5):e37929. doi: 10.1371/journal.pone.0037929. Epub 2012 May 23. 2012
25FOXO1, HTT, XBP1
Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy.
Vidal RL, Figueroa A, Court FA, Thielen P, Molina C, Wirth C, Caballero B, Kiffin R, Segura-Aguilar J, Cuervo AM, Glimcher LH, Hetz C.
Hum Mol Genet 21(10):2245-62. doi: 10.1093/hmg/dds040. Epub 2012 Feb 14. 2012
26HD, HTT
Structural features and domain organization of huntingtin fibrils.
Bugg CW, Isas JM, Fischer T, Patterson PH, Langen R.
J Biol Chem 287(38):31739-46. doi: 10.1074/jbc.M112.353839. 2012
27HTT, KPNB2
Identification of a karyopherin β1/β2 proline-tyrosine nuclear localization signal in huntingtin protein.
Desmond CR, Atwal RS, Xia J, Truant R.
J Biol Chem 287(47):39626-33. doi: 10.1074/jbc.M112.412379. 2012
28HD, HTT
Meclizine is neuroprotective in models of Huntington's disease.
Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha VK.
Hum Mol Genet 20(2):294-300. Epub 2010 Oct 25. 2011
29HTT
Huntingtin coordinates the dynein-mediated dynamic positioning of endosomes and lysosomes.
Caviston JP, Zajac AL, Tokito M, Holzbaur EL.
Mol Biol Cell. 22(4):478-92. 2011
30FIS1, HD, HTT, MFN1, MFN2, OPA1, PPID, TOMM40
Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage.
Shirendeb U, Reddy AP, Manczak M, Calkins MJ, Mao P, Tagle DA, Reddy PH.
Hum Mol Genet 20(7):1438-55. Epub 2011 Jan 21. 2011
31DCTN1, HTT, NUMA1
Mitotic spindle: focus on the function of huntingtin.
Godin JD, Humbert S.
Int J Biochem Cell Biol 43(6):852-6. Epub 2011 Mar 23. Review. 2011
32HTT, TRAF6
Tumor necrosis factor receptor-associated factor 6 (TRAF6) associates with huntingtin protein and promotes its atypical ubiquitination to enhance aggregate formation.
Zucchelli S, Marcuzzi F, Codrich M, Agostoni E, Vilotti S, Biagioli M, Pinto M, Carnemolla A, Santoro C, Gustincich S, Persichetti F.
J Biol Chem 286(28):25108-17. Epub 2011 Mar 25. 2011
33HD, HTT
Huntingtin affinity for partners is not changed by polyglutamine length: aggregation itself triggers aberrant interactions.
Davranche A, Aviolat H, Zeder-Lutz G, Busso D, Altschuh D, Trottier Y, Klein FA.
Hum Mol Genet 20(14):2795-806. Epub 2011 Apr 25. 2011
34HTT, ZDHHC17
Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14.
Huang K, Sanders SS, Kang R, Carroll JB, Sutton L, Wan J, Singaraja R, Young FB, Liu L, El-Husseini A, Davis NG, Hayden MR.
Hum Mol Genet 20(17):3356-65. Epub 2011 Jun 2. 2011
35HAP1, HTT, PCM1
Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease.
Keryer G, Pineda JR, Liot G, Kim J, Dietrich P, Benstaali C, Smith K, Cordelières FP, Spassky N, Ferrante RJ, Dragatsis I, Saudou F.
J Clin Invest 121(11):4372-82. doi: 10.1172/JCI57552. 2011
36HTT
A role for huntington disease protein in dendritic RNA granules.
Savas JN, Ma B, Deinhardt K, Culver BP, Restituito S, Wu L, Belasco JG, Chao MV, Tanese N.
J Biol Chem 285(17):13142-53. Epub 2010 Feb 25. 2010
37HD, HTT
Huntingtin facilitates polycomb repressive complex 2.
Seong IS, Woda JM, Song JJ, Lloret A, Abeyrathne PD, Woo CJ, Gregory G, Lee JM, Wheeler VC, Walz T, Kingston RE, Gusella JF, Conlon RA, Macdonald ME.
Hum Mol Genet 19(4):573-83. Epub 2009 Nov 23.PMID: 19933700 2010
38AP1S1 CD4, HD, HTT
Expression analysis of novel striatal-enriched genes in Huntington disease.
Mazarei G, Neal SJ, Becanovic K, Luthi-Carter R, Simpson EM, Leavitt BR.
Hum Mol Genet 19(4):609-22. Epub 2009 Nov 23.PMID: 19934114 2010
39HTT
The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-κB from the synapse to the nucleus.
Marcora E, Kennedy MB.
Hum Mol Genet 19(22):4373-84. Epub 2010 Aug 25. 2010
40HTT
Is Huntington disease a developmental disorder?
Humbert S.
EMBO Rep 11(12):899. No abstract available. 2010
41HD, HTT
Effects of overexpression of huntingtin proteins on mitochondrial integrity.
Wang H, Lim PJ, Karbowski M, Monteiro MJ.
Hum Mol Genet 18(4):737-52. Epub 2008 Nov 27. 2009
42HD, HTT
Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cells.
Ratovitski T, Gucek M, Jiang H, Chighladze E, Waldron E, D'Ambola J, Hou Z, Liang Y, Poirier MA, Hirschhorn RR, Graham R, Hayden MR, Cole RN, Ross CA.
J Biol Chem 284(16):10855-67. Epub 2009 Feb 9. 2009
43HTT, PAK2
Huntingtin promotes cell survival by preventing Pak2 cleavage.
Luo S, Rubinsztein DC.
J Cell Sci 122(Pt 6):875-85. Epub 2009 Feb 24. 2009
44HD, HTT, NR1H3
Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors.
Futter M, Diekmann H, Schoenmakers E, Sadiq O, Chatterjee K, Rubinsztein DC.
J Med Genet 46(7):438-46. Epub 2009 May 17. 2009
45HD, HTT
Mutant huntingtin interacts with {beta}-tubulin and disrupts vesicular transport and insulin secretion.
Smith R, Bacos K, Fedele V, Soulet D, Walz HA, Obermüller S, Lindqvist A, Björkqvist M, Klein P, Onnerfjord P, Brundin P, Mulder H, Li JY.
Hum Mol Genet 18(20):3942-54. Epub 2009 Jul 23.PMID: 19628478 2009
46HTT, RAB11A
Mutant huntingtin impairs vesicle formation from recycling endosomes by interfering with Rab11 activity.
Li X, Standley C, Sapp E, Valencia A, Qin ZH, Kegel KB, Yoder J, Comer-Tierney LA, Esteves M, Chase K, Alexander J, Masso N, Sobin L, Bellve K, Tuft R, Lifshitz L, Fogarty K, Aronin N, DiFiglia M.
Mol Cell Biol 29(22):6106-16. Epub 2009 Sep 14. 2009
47HAP1, HTT
Huntingtin associated protein 1 and its functions.
Wu LL, Zhou XF.
Cell Adh Migr 3(1):71-6. Epub 2009 Jan 26.PMID: 19262167 2009
48HTT
Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages.
Dietrich P, Shanmugasundaram R, Shuyu E, Dragatsis I.
Hum Mol Genet. 18(1):142-50. 2009
49HTT
Selective neuronal requirement for huntingtin in the developing zebrafish.
Henshall TL, Tucker B, Lumsden AL, Nornes S, Lardelli MT, Richards RI.
Hum Mol Genet. 18(24):4830-42. 2009
50C15orf63, HTT
HYPK, a Huntingtin interacting protein, reduces aggregates and apoptosis induced by N-terminal Huntingtin with 40 glutamines in Neuro2a cells and exhibits chaperone-like activity.
Raychaudhuri S, Sinha M, Mukhopadhyay D, Bhattacharyya NP.
Hum Mol Genet 17(2):240-55. Epub 2007 Oct 18. 2008
51HD, HTT
Huntington's disease: genetics lends a hand.
Palfi S, Jarraya B.
Nature 453(7197):863-4. No abstract available. 2008
52HTT, NFYA, HSPA4
Mutant Huntingtin reduces HSP70 expression through the sequestration of NF-Y transcription factor.
Yamanaka T, Miyazaki H, Oyama F, Kurosawa M, Washizu C, Doi H, Nukina N.
EMBO J 27(6):827-39. Epub 2008 Feb 21. 2008
53AGO2, HD, HTT
Huntington's disease protein contributes to RNA-mediated gene silencing through association with Argonaute and P bodies.
Savas JN, Makusky A, Ottosen S, Baillat D, Then F, Krainc D, Shiekhattar R, Markey SP, Tanese N.
Proc Natl Acad Sci U S A 105(31):10820-5. Epub 2008 Jul 31. 2008
54HTT
Huntingtin phosphorylation acts as a molecular switch for anterograde/retrograde transport in neurons.
Colin E, Zala D, Liot G, Rangone H, Borrell-Pagès M, Li XJ, Saudou F, Humbert S.
EMBO J 27(15):2124-34. Epub 2008 Jul 10. 2008
55HTT, ZDHHC13, ZDHHC17
Huntingtin-interacting proteins, HIP14 and HIP14L, mediate dual functions, palmitoyl acyltransferase and Mg2+ transport.
Goytain A, Hines RM, Quamme GA.
J Biol Chem 283(48):33365-74. Epub 2008 Sep 15. 2008
56BDNF, HD, HTT
Phosphorylation of mutant huntingtin at S421 restores anterograde and retrograde transport in neurons.
Zala D, Colin E, Rangone H, Liot G, Humbert S, Saudou F.
Hum Mol Genet 17(24):3837-46. Epub 2008 Sep 4. 2008
57DCTN1, HAP1, HTT, REST, RILP
Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued.
Shimojo M.
J Biol Chem 283(50):34880-6. Epub 2008 Oct 15. 2008
58HD, HTT
N-terminal mutant huntingtin associates with mitochondria and impairs mitochondrial trafficking.
Orr AL, Li S, Wang CE, Li H, Wang J, Rong J, Xu X, Mastroberardino PG, Greenamyre JT, Li XJ.
J Neurosci 28(11):2783-92.PMID: 18337408 2008
59HD, HTT
Huntington's disease: from pathology and genetics to potential therapies.
Imarisio S, Carmichael J, Korolchuk V, Chen CW, Saiki S, Rose C, Krishna G, Davies JE, Ttofi E, Underwood BR, Rubinsztein DC.
Biochem J 412(2):191-209. Review.PMID: 18466116 2008
60HTT, PFN1, PFN2, ROCK1
Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation.
Shao J, Welch WJ, Diprospero NA, Diamond MI.
Mol Cell Biol 28(17):5196-208. doi: 10.1128/MCB.00079-08. Epub 2008 Jun 23. 2008
61HTT
Wild-type huntingtin participates in protein trafficking between the Golgi and the extracellular space.
Strehlow AN, Li JZ, Myers RM.
Hum Mol Genet 16(4):391-409. Epub 2006 Dec 22. 2007
62HTT
The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis.
Rockabrand E, Slepko N, Pantalone A, Nukala VN, Kazantsev A, Marsh JL, Sullivan PG, Steffan JS, Sensi SL, Thompson LM.
Hum Mol Genet 16(1):61-77. Epub 2006 Nov 29. 2007
63HD, HTT
Global changes to the ubiquitin system in Huntington's disease.
Bennett EJ, Shaler TA, Woodman B, Ryu KY, Zaitseva TS, Becker CH, Bates GP, Schulman H, Kopito RR.
Nature 448(7154):704-8. 2007
64HTT
Huntingtin facilitates dynein/dynactin-mediated vesicle transport.
Caviston JP, Ross JL, Antony SM, Tokito M, Holzbaur EL.
Proc Natl Acad Sci U S A 104(24):10045-50. Epub 2007 Jun 4. 2007
65CDK5, HTT
Phosphorylation of huntingtin by cyclin-dependent kinase 5 is induced by DNA damage and regulates wild-type and mutant huntingtin toxicity in neurons.
Anne SL, Saudou F, Humbert S.
J Neurosci 27(27):7318-28. 2007
66HTT
Mutant huntingtin alters MAPK signaling pathways in PC12 and striatal cells: ERK1/2 protects against mutant huntingtin-associated toxicity.
Apostol BL, Illes K, Pallos J, Bodai L, Wu J, Strand A, Schweitzer ES, Olson JM, Kazantsev A, Marsh JL, Thompson LM.
Hum Mol Genet 15(2):273-85. Epub 2005 Dec 5. 2006
67HTT, HD
Regional and cellular gene expression changes in human Huntington's disease brain.
Hodges A, Strand AD, Aragaki AK, Kuhn A, Sengstag T, Hughes G, Elliston LA, Hartog C, Goldstein DR, Thu D, Hollingsworth ZR, Collin F, Synek B, Holmans PA, Young AB, Wexler NS, Delorenzi M, Kooperberg C, Augood SJ, Faull RL, Olson JM, Jones L, Luthi-Carter R.
Hum Mol Genet 15(6):965-77. Epub 2006 Feb 8. 2006
68HTT, UBQLN1, HD
Suppression of polyglutamine-induced toxicity in cell and animal models of Huntington's disease by ubiquilin.
Wang H, Lim PJ, Yin C, Rieckher M, Vogel BE, Monteiro MJ.
Hum Mol Genet 15(6):1025-41. Epub 2006 Feb 6. 2006
69HTT, HD
Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin.
Graham RK, Deng Y, Slow EJ, Haigh B, Bissada N, Lu G, Pearson J, Shehadeh J, Bertram L, Murphy Z, Warby SC, Doty CN, Roy S, Wellington CL, Leavitt BR, Raymond LA, Nicholson DW, Hayden MR.
Cell 125(6):1179-91. 2006
70PPARGC1A, HTT
Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration.
Cui L, Jeong H, Borovecki F, Parkhurst CN, Tanese N, Krainc D.
Cell 127(1):59-69. 2006
71HTT
Deletion of the triplet repeat encoding polyglutamine within the mouse Huntington's disease gene results in subtle behavioral/motor phenotypes in vivo and elevated levels of ATP with cellular senescence in vitro.
Clabough EB, Zeitlin SO.
Hum Mol Genet. 15(4):607-23. 2006
72F8A1, HTT, RAB5A
Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease.
Pal A, Severin F, Lommer B, Shevchenko A, Zerial M.
J Cell Biol 172(4):605-18. 2006
73HCRT, HTT, HD
Orexin loss in Huntington's disease.
Petersen A, Gil J, Maat-Schieman ML, Bjorkqvist M, Tanila H, Araujo IM, Smith R, Popovic N, Wierup N, Norlen P, Li JY, Roos RA, Sundler F, Mulder H, Brundin P.
Hum Mol Genet 14(1):39-47. Epub 2004 Nov 03. 2005
74HTT, TPR, HD
Polyglutamine expansion of huntingtin impairs its nuclear export.
Cornett J, Cao F, Wang CE, Ross CA, Bates GP, Li SH, Li XJ.
Nat Genet 37(2):198-204. Epub 2005 Jan 16. 2005
75HTT, HD
Inclusions to the rescue? Neuroprotective role for huntingtin inclusions in HD.
Slow E.
Clin Genet 67(3):228-9. No abstract available. 2005
76HTT, HD
Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease.
Tang TS, Slow E, Lupu V, Stavrovskaya IG, Sugimori M, Llinas R, Kristal BS, Hayden MR, Bezprozvanny I.
Proc Natl Acad Sci U S A 102(7):2602-7. Epub 2005 Feb 3. 2005
77HTT, KMO
A genomic screen in yeast implicates kynurenine 3-monooxygenase as a therapeutic target for Huntington disease.
Giorgini F, Guidetti P, Nguyen Q, Bennett SC, Muchowski PJ.
Nat Genet 37(5):526-31. Epub 2005 Apr 3. 2005
78HTT
Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo.
Warby SC, Chan EY, Metzler M, Gan L, Singaraja RR, Crocker SF, Robertson HA, Hayden MR.
Hum Mol Genet 14(11):1569-77. Epub 2005 Apr 20. 2005
79HTT, HD
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.
Seong IS, Ivanova E, Lee JM, Choo YS, Fossale E, Anderson M, Gusella JF, Laramie JM, Myers RH, Lesort M, Macdonald ME.
Hum Mol Genet 14(19):2871-80. Epub 2005 Aug 22. 2005
80PLS3, LCP1, ATXN2, HTT, SH3GL3, SH3GL2
Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.
Ralser M, Nonhoff U, Albrecht M, Lengauer T, Wanker EE, Lehrach H, Krobitsch S.
Hum Mol Genet 14(19):2893-2909. Epub 2005 Aug 22. 2005
81HTT, HD
Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease.
Benn CL, Landles C, Li H, Strand AD, Woodman B, Sathasivam K, Li SH, Ghazi-Noori S, Hockly E, Faruque SM, Cha JH, Sharpe PT, Olson JM, Li XJ, Bates GP.
Hum Mol Genet 14(20):3065-78. Epub 2005 Sep 23. 2005
82HTT
Normal huntingtin function: an alternative approach to Huntington's disease.
Cattaneo E, Zuccato C, Tartari M.
Nat Rev Neurosci 6(12):919-30. Review. 2005
83HTT
Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.
Cong SY, Pepers BA, Evert BO, Rubinsztein DC, Roos RA, van Ommen GJ, Dorsman JC.
Mol Cell Neurosci. 30(4):560-71. 2005
84HTT
SUMO modification of Huntingtin and Huntington's disease pathology.
Steffan JS, Agrawal N, Pallos J, Rockabrand E, Trotman LC, Slepko N, Illes K, Lukacsovich T, Zhu YZ, Cattaneo E, Pandolfi PP, Thompson LM, Marsh JL.
Science 304(5667):100-4. 2004
85BDNF, HTT, HAP1, DCTN1
Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules.
Gauthier LR, Charrin BC, Borrell-Pages M, Dompierre JP, Rangone H, Cordelieres FP, De Mey J, MacDonald ME, Lessmann V, Humbert S, Saudou F.
Cell 118(1):127-38. 2004
86HTT
Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation.
Schaffar G, Breuer P, Boteva R, Behrends C, Tzvetkov N, Strippel N, Sakahira H, Siegers K, Hayer-Hartl M, Hartl FU.
Mol Cell. 15(1):95-105. 2004
87HTT
Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease.
Hermel E, Gafni J, Propp SS, Leavitt BR, Wellington CL, Young JE, Hackam AS, Logvinova AV, Peel AL, Chen SF, Hook V, Singaraja R, Krajewski S, Goldsmith PC, Ellerby HM, Hayden MR, Bredesen DE, Ellerby LM.
Cell Death Differ. 11(4):424-38. 2004
88HTT
Cell death triggered by polyglutamine-expanded huntingtin in a neuronal cell line is associated with degradation of CREB-binding protein.
Jiang H, Nucifora FC Jr, Ross CA, DeFranco DB.
Hum Mol Genet 12(1):1-12. 2003
89HTT
Transcriptional abnormalities in Huntington disease.
Sugars KL, Rubinsztein DC.
Trends Genet 19(5):233-8. Review. 2003
90HTT
Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagy.
Ravikumar B, Stewart A, Kita H, Kato K, Duden R, Rubinsztein DC.
Hum Mol Genet 12(9):985-94. 2003
91HAT1, HTT, MAP3K10, NEUROD1
Stimulation of NeuroD activity by huntingtin and huntingtin-associated proteins HAP1 and MLK2.
Marcora E, Gowan K, Lee JE.
Proc Natl Acad Sci U S A 100(16):9578-83. Epub 2003 Jul 24. 2003
92HD, HTT
Mechanisms of neuronal cell death in Huntington's disease.
Sawa A, Tomoda T, Bae BI.
Cytogenet Genome Res 100(1-4):287-95. 2003
93HTT, REST
Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes.
Zuccato C, Tartari M, Crotti A, Goffredo D, Valenza M, Conti L, Cataudella T, Leavitt BR, Hayden MR, Timmusk T, Rigamonti D, Cattaneo E.
Nat Genet 35(1):76-83. Epub 2003 Jul 27. 2003
94HD, HTT
Huntington's disease: a synaptopathy?
Li JY, Plomann M, Brundin P.
Trends Mol Med 9(10):414-20. Review. 2003
95HTT
Cdc42-interacting protein 4 binds to huntingtin: neuropathologic and biological evidence for a role in Huntington's disease.
Holbert S, Dedeoglu A, Humbert S, Saudou F, Ferrante RJ, Néri C.
Proc Natl Acad Sci U S A. 100(5):2712-7. 2003
96HD, HTT, IFT57
Accomplices to neuronal death.
Mattson MP.
Nature 415(6870):377-9. No abstract available. 2002
97HTT, ZDHHC13, ZDHHC17
HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis.
Singaraja RR, Hadano S, Metzler M, Givan S, Wellington CL, Warby S, Yanai A, Gutekunst CA, Leavitt BR, Yi H, Fichter K, Gan L, McCutcheon K, Chopra V, Michel J, Hersch SM, Ikeda JE, Hayden MR.
Hum Mol Genet 11(23):2815-28. 2002
98HTT
Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription.
Kegel KB, Meloni AR, Yi Y, Kim YJ, Doyle E, Cuiffo BG, Sapp E, Wang Y, Qin ZH, Chen JD, Nevins JR, Aronin N, DiFiglia M.
J Biol Chem. 277(9):7466-76. 2002
99HTT
The IGF-1/Akt pathway is neuroprotective in Huntington's disease and involves Huntingtin phosphorylation by Akt.
Humbert S, Bryson EA, Cordelières FP, Connors NC, Datta SR, Finkbeiner S, Greenberg ME, Saudou F.
Dev Cell. 2(6):831-7. 2002
100HTT
PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains.
Modregger J, DiProspero NA, Charles V, Tagle DA, Plomann M.
Hum Mol Genet. 11(21):2547-58. 2002
101HTT
Interaction of Huntington disease protein with transcriptional activator Sp1.
Li SH, Cheng AL, Zhou H, Lam S, Rao M, Li H, Li XJ.
Mol Cell Biol. 22(5):1277-87. 2002
102HTT
Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with beta-tubulin: relevance to Huntington's disease.
Hoffner G, Kahlem P, Djian P.
J Cell Sci. 115(Pt 5):941-8. 2002
103HTT
Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release.
Jana NR, Zemskov EA, Wang Gh, Nukina N.
Hum Mol Genet 10(10):1049-59. 2001
104HD, HTT
Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease.
Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, MacDonald ME, Friedlander RM, Silani V, Hayden MR, Timmusk T, Sipione S, Cattaneo E.
Science 293(5529):493-8. 2001
105HTT
Centrosome disorganization in fibroblast cultures derived from R6/2 Huntington's disease (HD) transgenic mice and HD patients.
Sathasivam K, Woodman B, Mahal A, Bertaux F, Wanker EE, Shima DT, Bates GP.
Hum Mol Genet 10(21):2425-35. 2001
106F8A1, HTT
Isolation of a 40-kDa Huntingtin-associated protein.
Peters MF, Ross CA.
J Biol Chem 276(5):3188-94. 2001
107HTT
Functional characterization of the human Huntington's disease gene promoter.
Holzmann C, Schmidt T, Thiel G, Epplen JT, Riess O.
Brain Res Mol Brain Res 92(1-2):85-97. 2001
108HTT
Polyglutamine-expanded huntingtin promotes sensitization of N-methyl-D-aspartate receptors via post-synaptic density 95.
Sun Y, Savanenin A, Reddy PH, Liu YF.
J Biol Chem. 276(27):24713-8. 2001
109HTT
Huntingtin is required for normal hematopoiesis.
Metzler M, Helgason CD, Dragatsis I, Zhang T, Gan L, Pineault N, Zeitlin SO, Humphries RK, Hayden MR.
Hum Mol Genet 9(3):387-394 2000
110HD, HTT
Motor disorder in Huntington's disease begins as a dysfunction in error feedback control.
Smith MA, Brandt J, Shadmehr R.
Nature 403(6769):544-9. 2000
111CREBBP, HD, HTT, TP53
The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription.
Steffan JS, Kazantsev A, Spasic-Boskovic O, Greenwald M, Zhu YZ, Gohler H, Wanker EE, Bates GP, Housman DE, Thompson LM.
Proc Natl Acad Sci U S A 97(12):6763-8. 2000
112HTT
Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells.
Trettel F, Rigamonti D, Hilditch-Maguire P, Wheeler VC, Sharp AH, Persichetti F, Cattaneo E, MacDonald ME.
Hum Mol Genet 9(19):2799-809. 2000
113HTT
Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis.
Li SH, Lam S, Cheng AL, Li XJ.
Hum Mol Genet 9(19):2859-67. 2000
114FBL, HTT, PRPF40A, SETD2
Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles.
Hilditch-Maguire P, Trettel F, Passani LA, Auerbach A, Persichetti F, MacDonald ME.
Hum Mol Genet 9(19):2789-97. 2000
115HTT
Huntingtin expression stimulates endosomal-lysosomal activity, endosome tubulation, and autophagy.
Kegel KB, Kim M, Sapp E, McIntyre C, Castano JG, Aronin N, DiFiglia M.
J Neurosci 20(19):7268-78. 2000
116HIP1, HIP1R, HTT
HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin.
Chopra VS, Metzler M, Rasper DM, Engqvist-Goldstein AE, Singaraja R, Gan L, Fichter KM, McCutcheon K, Drubin D, Nicholson DW, Hayden MR.
Mamm Genome 11(11):1006-15. 2000
117HTT, MAP3K10
Activation of MLK2-mediated signaling cascades by polyglutamine-expanded huntingtin.
Liu YF, Dorow D, Marshall J.
J Biol Chem 275(25):19035-40. 2000
118HTT
FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis.
Hattula K, Peränen J.
Curr Biol. 10(24):1603-6. 2000
119HTT
In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease.
Hackam AS, Singaraja R, Zhang T, Gan L, Hayden MR.
Hum Mol Genet 8 : 25-33. 1999
120HTT
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.
Leeflang EP, et al.
Hum Mol Genet 8 : 173-183. 1999
121HTT, TGM2
Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei.
Karpuj MV, et al.
Proc Natl Acad Sci U S A 96(13):7388-93. 1999
122HTT
A molecular investigation of true dominance in Huntington's disease.
Narain Y, et al.
J Med Genet 36(10):739-46 1999
123GAPDH, HAP1, HTT, HIP1, UBE2K
Recent advances on the pathogenesis of Huntington's disease.
Petersen A, Mani K, Brundin P.
Exp Neurol 157(1):1-18. Review. 1999
124HTT
Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin.
Boutell JM, Thomas P, Neal JW, Weston VJ, Duce J, Harper PS, Jones AL.
Hum Mol Genet. 8(9):1647-55. 1999
125HTT
Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates.
Martindale D, Hackam A, Wieczorek A, Ellerby L, Wellington C, McCutcheon K, Singaraja R, Kazemi-Esfarjani P, Devon R, Kim SU, Bredesen DE, Tufaro F, Hayden MR.
Nat Genet 18(2):150-4. 1998
126HTT
The influence of huntingtin protein size on nuclear localization and cellular toxicity.
Hackam AS, et al.
J Cell Biol 141 : 1097-1105. 1998
127HTT
A cellular model that recapitulates major pathogenic steps of Huntington's disease.
Lunkes A, et al.
Hum Mol Genet 7 : 1355-1361. 1998
128TGM2, HTT
Transglutaminase action imitates Huntington's disease: selective polymerization of Huntingtin containing expanded polyglutamine.
Kahlem P, et al.
Mol Cell 1(4):595-601. 1998
129CBS, HTT
Huntingtin interacts with cystathionine beta-synthase.
Boutell JM, et al.
Hum Mol Genet 7(3):371-8. 1998
130HD, HTT
Molecular aspects of Huntington's disease.
Walling HW, et al.
J Neurosci Res 54(3):301-8. Review. 1998
131AP2A1, AP2A2, C15orf63, CXorf27, FICD, HTT, PRPF40A, PRPF40B, SETD2, SYMPK, ZDHHC17
Huntingtin interacts with a family of WW domain proteins.
Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME.
Hum Mol Genet 7(9):1463-74. 1998
132HAP1, HTT
A human HAP1 homologue. Cloning, expression, and interaction with huntingtin.
Li SH, Hosseini SH, Gutekunst CA, Hersch SM, Ferrante RJ, Li XJ.
J Biol Chem 273(30):19220-7. 1998
133HTT
SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates.
Sittler A, Wälter S, Wedemeyer N, Hasenbank R, Scherzinger E, Eickhoff H, Bates GP, Lehrach H, Wanker EE.
Mol Cell. 2(4):427-36. 1998
134HTT, HIP1
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain.
Kalchman MA, et al.
Nat Genet 16 : 44-53. 1997
135HTT
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion.
White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME.
Nat Genet 17(4):404-10. 1997
136EGFR, HTT
SH3 domain-dependent association of huntingtin with epidermal growth factor receptor signaling complexes.
Liu YF, et al.
J Biol Chem 272(13):8121-4. 1997
137HTT
Huntington's disease gene product, huntingtin, associates with microtubules in vitro.
Tukamoto T, et al.
Brain Res Mol Brain Res 51(1-2):8-14. 1997
138ATN1, HTT
Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy.
Connarty M, et al.
Hum Genet 97 : 76-78. 1996
139HTT
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.
Rubinsztein DC, et al.
Am J Hum Genet 59 : 16-22. 1996
140HTT
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract.
Goldberg YP, et al.
Nat Genet 13 : 442-449. 1996
141HTT
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice.
Mangiarini L, et al.
Cell 87 : 493-506. 1996
142ATXN1, HTT
Genetic fitness in Huntington's disease and spinocerebellar ataxia 1 : a population genetics model for CAG repeat expansions.
Frontali M, et al.
Ann Hum Genet 60 : 423-435. 1996
143CALM1, HD, HTT
Expansion of polyglutamine repeat in huntingtin leads to abnormal protein interactions involving calmodulin.
Bao J, et al.
Proc Natl Acad Sci U S A 93(10):5037-42. 1996
144HTT, UBE2K
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme.
Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, Goldberg YP, Gietz RD, Pickart CM, Hayden MR.
J Biol Chem. 271(32):19385-94. 1996
145HD, HTT
Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.
Telenius H, et al.
Hum Mol Genet 4 : 189-195. 1995
146HD, HTT
Ancestral differences in the distribution of the delta2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes : insights into the genetic evolution of Huntington disease.
Almqvist E, et al.
Hum Mol Genet 4 : 207-214. 1995
147HD, HTT
Haplotype analysis of the delta2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype.
Rubinsztein DC, et al.
Hum Mol Genet 4 : 203-206. 1995
148HD, HTT
Somatic expansion of the (CAG)n repeat in Huntington disease brains.
De Rooij KE, et al.
Hum Genet 95 : 270-274. 1995
149ATXN1, HD, HTT, MJD
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.
Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, et al.
Nature 378 : 403-406. 1995
150HTT
Stability of the Huntington disease (CAG)n repeat in a late-onset form occurring on the Island of Crete.
Tzagournissakis M, et al.
Hum Mol Genet 4 : 2239-2243. 1995
151HTT
Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and Di- and trinucleotide polymorphisms.
Lin B, et al.
Genomics 25 : 707-715. 1995
152HTT
Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus : report of a family.
Yapijakis C, et al.
Clin Genet 47 : 133-138. 1995
153HTT
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.
Trottier Y, et al.
Nat Genet 10 : 104-110. 1995
154HTT
Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
Pcheux C, et al.
J Med Genet 32 : 399-400. 1995
155HTT
Expression of the Huntington disease gene in rodents : cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development.
Schmitt I, et al.
Hum Mol Genet 4 : 1173-1182. 1995
156HTT
Inactivation of the mouse Huntington's disease gene homolog Hdh.
Duyao MP, et al.
Science 269 : 407-410. 1995
157HTT
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes.
Nasir J, et al.
Cell 81 : 811-823. 1995
158HTT
Expression of the Huntington's disease (IT15) protein product in HD patients.
Schilling G, et al.
Hum Mol Genet 4 : 1365-1371. 1995
159HTT
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene : implications for diagnostic accuracy and predictive testing.
Andrew SE, et al.
Hum Mol Genet 3 : 65-67. 1994
160HTT
Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.
Hummerich H, et al.
Hum Mol Genet 3 : 73-78. 1994
161HTT
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.
Telenius H, et al.
Nat Genet 6 : 409-414. 1994
162HTT
A Sau3A polymorphism in the 5' end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion.
Carlock L, et al.
Hum Genet 93 : 457-459. 1994
163HD, HTT
A worldwide study of the Huntington's disease mutation.
Kremer B, et al.
N Engl J Med 330 : 1401-1406. 1994
164HTT
Huntington disease without CAG expansion : phenocopies or errors in assignment ?
Andrdew SE, et al.
Am J Hum Genet 54 : 852-863. 1994
165HTT
Instability of CAG repeats in Huntington's disease : relation to parental transmission and age of onset.
Trottier Y, et al.
J Med Genet 31 : 377-382. 1994
166HTT
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.
Novelletto A, et al.
Hum Mol Genet 3 : 1129-1132. 1994
167HTT, ADD1
The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3.
Nasir J, et al.
Genomics 22 : 198-201. 1994
168HTT
Mutation analysis in patients with possible but apparently sporadic Huntington's disease.
Davis MB, et al.
Lancet 344 : 714-717. 1994
169LRPAP1, ADD1, HTT, CD1R2L
Identification of genes within CpG-enriched DNA from human chromosome 4p16.3.
John RM, et al.
Hum Mol Genet 3 : 1611-1616. 1994
170HTT
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence.
Squitieri F, et al.
Hum Mol Genet 3 : 2103-2114. 1994
171HTT
Structure and expression of the Huntington's disease gene : evidence against simple inactivation due to an expanded CAG repeat.
Ambrose CM, et al.
Somat Cell Mol Genet 20 : 27-38. 1994
172HTT
The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.
Snell RG, et al.
Hum Mol Genet 2 : 305-309. 1993
173HTT
Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease.
Goldberg YP, et al.
Nature 362 : 370-373. 1993
174HTT
Characterization and localization of the Huntington disease gene product.
Hoogeveen AT, et al.
Hum Mol Genet 2 : 2069-2073. 1993
175HTT
Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland.
Morrison PJ, et al.
J Med Genet 30 : 1018-1019. 1993
176HD, HTT
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.
The Huntington's disease collaborative research Group.
Cell 72 : 971-983. 1993
177HTT
A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene.
Baxendale S, et al.
Nat Genet 4 : 181-186. 1993
178HTT, D4S10
Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of human chromosome 4.
Zuo J, et al.
Hum Mol Genet 2 : 889-899. 1993
179HTT
A transcription map of the region containing the Huntington disease gene.
Rommens JM, et al.
Hum Mol Genet 2 : 901-907. 1993
180HTT
The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.
Farrer LA, et al.
Am J Hum Genet 53 : 125-130. 1993
181HTT
Defining the proximal border of the Huntington disease candidate region by multipoint recombination analyses.
Skraastad MI, et al.
Genomics 16 : 599-604. 1993
182HTT
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease.
Andrew SE, et al.
Nat Genet 4 : 398-403. 1993
183HTT
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.
Snell RG, et al.
Nat Genet 4 : 393-397. 1993
184AR, HTT, DM1, FMR1
Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins.
Richards RI, et al.
Hum Mol Genet 2 : 1429-1435. 1993
185HD, HTT
Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin.
ZŸhlke C, et al.
Hum Mol Genet 2 : 1467-1469. 1993
186HTT
Molecular analysis of juvenile Huntington disease : the major influence on (CAG)n repeat length is the sex of the affected parent.
Telenius H, et al.
Hum Mol Genet 2 : 1535-1540. 1993
187HTT
Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression.
Lin B, et al.
Hum Mol Genet 2 : 1541-1545. 1993
188HTT
Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15.
Stine OC, et al.
Hum Mol Genet 2 : 1547-1549. 1993
189HTT
Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number.
Rubinsztein DC, et al.
Hum Mol Genet 2 : 1713-1715. 1993
190HTT
Molecular analysis and clinical correlations of the Huntington's disease mutation.
MacMillan JC, et al.
Lancet 342 : 954-958. 1993
191HD, HTT
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.
Myers RH, et al.
Nat Genet 5 : 168-173. 1993
192HTT
Molecular analysis of new mutations for Huntington's disease : intermediate alleles and sex of origin effects.
Goldberg YP, et al.
Nat Genet 5 : 174-179. 1993
193HD, HTT
Characterization and localization of the Huntington disease gene product.
Hoogeveen AT, Willemsen R, Meyer N, de Rooij KE, Roos RA, van Ommen GJ, Galjaard H.
Hum Mol Genet 2(12):2069-73. 1993
194HTT
Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region.
Weber B, et al.
Am J Hum Genet 50 : 382-393. 1992
195HTT
Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3.
Andrew S, et al.
Genomics 13 : 301-311. 1992
196HTT
Recombination of 4p16 DNA markers in an unusual family with Huntington disease.
Pritchard C, et al.
Am J Hum Genet 50 : 1218-1230. 1992
197HD, HTT
Cloning of the Huntington disease region in yeast artificial chromosomes.
Zuo J, et al.
Hum Mol Genet 1 : 149-159. 1992
198HTT
A recombination event that redefines the Huntington disease region.
Snell RG, et al.
Am J Hum Genet 51 : 357-362. 1992
199HTT
An estimate of the number of genes in the huntington disease gene region and the identification of 13 transcripts in the 4p16.3 segment.
Carlock L, et al.
Genomics 13 : 1108-1118. 1992
200HTT
Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.
Altherr MR, et al.
Genomics 13 : 1040-1046. 1992
201HTT
The Huntington's disease candidate region exhibits many different haplotypes.
MacDonald ME, et al.
Nat Genet 1 : 99-103. 1992
202HTT, PDE6B
Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease.
Riess O, et al.
Nat Genet 1 : 104-108. 1992
203HTT
Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region.
Bates GP, et al.
Nat Genet 1 : 180-187. 1992
204ADD1, HTT
Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification.
Taylor SAM, et al.
Nat Genet 2 : 223-227. 1992
205HTT
Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease.
Weber B, et al.
Nat Genet 2 : 216-222. 1992
206HTT
Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3.
McCombie WR, et al.
Nat Genet 1 : 348-353. 1992
207HTT
Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population.
Skraastad MI, et al.
Am J Hum Genet 51 : 730-735. 1992
208HTT
Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.
Allitto BA, et al.
Mol Cell Probes 6 : 513-520. 1992
209HTT
Defined physical limits of the Huntington disease gene candidate region.
Bates GP, et al.
Am J Hum Genet 49 : 7-16. 1991
210HTT
Linkage disequilibrium and the Huntington's disease gene.
Snell RG, et al.
(HGM11) Cytogenet Cell Genet 58 : 1890. 1991
211HTT
Identification of new polymorphic DNA markers from a candidate region for the HD gene.
Weber B, et al.
(HGM11) Cytogenet Cell Genet 58 : 1891. 1991
212HTT
Two cloned Alu-PCR-products from Huntington disease region.
de Rooij KE, et al.
(HGM11) Cytogenet Cell Genet 58 : 1892. 1991
213HTT
Complex patterns of linkage disequilibrium in the Huntington disease region.
MacDonald ME, et al.
Am J Hum Genet 49 : 723-734. 1991
214HTT
Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene.
Weber B, et al.
Genomics 11 : 1113-1124. 1991
215HTT
New DNA markers in the Huntington's disease gene candidate region.
Lin CS, et al.
Somat Cell Mol Genet 17 : 481-488. 1991
216HTT
Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.
Barron L, et al.
J Med Genet 28 : 520-522. 1991
217HTT
Linkage disequilibrium and modification of risk for Huntington disease.
Adam S, et al.
Am J Hum Genet 48 : 595-603. 1991
218HTT
Mapping of cosmid clones in Huntington's disease region of chromosome 4.
Whaley WL, et al.
Somat Cell Mol Genet 17 : 83-91. 1991
219HTT
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.
Bates GP, et al.
Am J Hum Genet 46 : 762-775. 1990
220HTT
Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation.
Bucan M, et al.
Genomics 6 : 1-15. 1990
221HTT
A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients.
Pritchard C, et al.
Proc Natl Acad Sci U S A 87 : 7309-7313. 1990
222HTT, D4S10
Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region.
Skraastad MI, et al.
Am J Hum Genet 44 : 560-566. 1989
223HD, HTT
Huntington disease : no evidence for locus heterogeneity.
Conneally PM, Haines JL, Tanzi RE, Wexler NS, Penchaszadeh GK, Harper PS, Folstein SE, Cassiman JJ, Myers RH, Young AB, et al.
Genomics 5 : 304-308. 1989
224HD, HTT
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90.
Robbins C, Theilmann J, Youngman S, Haines J, Altherr MJ, Harper PS, Payne C, Junker A, Wasmuth J, Hayden MR.
Am J Hum Genet 44 : 422-425. 1989
225HTT
Predictive testing for Huntington's disease with linked DNA markers.
Brock DJH, et al.
Lancet II : 463-466. 1989
226HTT
Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.
Snell RG, et al.
J Med Genet 26 : 673-675. 1989
227HTT, D4S90
A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.
Youngman S, et al.
Genomics 5 : 802-809. 1989
228HTT
Inability to map the location of the Huntington disease gene due to conflicting recombination events with closely linked DNA markers.
Quarell OWJ, et al.
Am J Hum Genet 45 : A158. 1989
229HD, HTT
The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere.
Doggett NA, et al.
Proc Natl Acad Sci U S A 86 : 10011-10014. 1989
230HTT
Clustering of multiallele DNA markers near the Huntington's disease gene.
MacDonald ME, Cheng SV, Zimmer M, Haines JL, Poustka A, Allitto B, Smith B, Whaley WL, Romano DM, Jagadeesh J, et al.
J Clin Invest 84 : 1013-1016. 1989
231HTT, D4S95, D4S98
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
Theilmann J, Kanani S, Shiang R, Robbins C, Quarrell O, Huggins M, Hedrick A, Weber B, Collins C, Wasmuth JJ, et al.
J Med Genet 26 : 676-681. 1989
232HTT
Prenatal exclusion testing for Huntington disease using the polymerase chain reaction.
McIntosh I, et al.
Am J Med Genet 32 : 274-276. 1989
233HTT, D4S10, D4S81, D4S82
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.
Richards JE, Gilliam TC, Cole JL, Drumm ML, Wasmuth JJ, Gusella JF, Collins FS.
Proc Natl Acad Sci U S A 85 : 6437-6441. 1988
234HTT, D4S113, D4S114
Mapping of D4S98/S114/S113 confines the Hungtinton's defect to a reduced physical region at the telomere of chromosome 4.
Whaley WL, Michiels F, MacDonald ME, Romano D, Zimmer M, Smith B, Leavitt J, Bucan M, Haines JL, Gilliam TC, et al.
Nucleic Acids Res 16 : 11769-11780. 1988
235D4S62, HTT
A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene.
Hayden MR, et al.
Am J Hum Genet 42 : 125-131. 1988
236HTT, D4S95
A highly polymorphic locus very tightly linked to the Huntington's disease gene.
Wasmuth JJ, et al.
Nature 332 : 734-736. 1988
237HTT, D4S95, D4S96, D4S97, D4S98, D4S99
Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus.
Smith B, et al.
Am J Hum Genet 42 : 335-344. 1988
238D4S10, HTT
Sequence analysis of three polymorphic regions in the human genome detected by the G8 probe for RFLPs associated with Huntington's disease.
Stapleton PM.
Nucleic Acids Res 16 : 2735. 1988
239HD, HTT
The gene causing Huntington disease is telomeric to a variable number of tandem repeat (VNTR) polymorphism detected by D4S95 and a new DNA marker D4S90.
Hayden MR, et al.
Am J Hum Genet 43 : A86. 1988
240HTT, D4S10
Further evidence for the lack of heterogeneity of linkage of Huntington disease to D4S10.
Haines JL, et al.
(HGM9) Cytogenet Cell Genet 46 : 625. 1987
241HTT, D4S10
Extension of the Huntington's disease marker D4S10 by cosmid walking.
Skraastad MI, et al.
(HGM9) Cytogenet Cell Genet 46 : 693. 1987
242HTT, D4S111, D4S113, D4S114, D4S115, D4S116
Cloning of NotI sites containing sequences (linking clones) from the regions 4pter-4p15.1 and 5p up to 5p15.1 and further characterization of the clones expected to map close to the Huntington's disease locus.
Frischauf AM, et al.
(HGM9) Cytogenet Cell Genet 46 : 616. 1987
243HD, HTT
First-trimester prenatal diagnosis for Huntington's disease with DNA probes.
Hayden MR, et al.
Lancet I : 1284-1285. 1987
244HD, HTT
Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker.
Quarrell OWJ, et al.
Lancet I : 1281-1283. 1987
245HTT, D4S68, D4S69, D4S70, D4S71, D4S72, D4S73, D4S74, D4S75, D4S76, D4S77, D4S78, D4S79, D4S80
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.
MacDonald ME, et al.
Genomics 1 : 29-34. 1987
246D4S62, HD, HTT
Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere.
Gilliam TC, et al.
Cell 50 : 565-571. 1987
247HTT
A DNA segment encoding two genes very tightly linked to Huntington's disease.
Gilliam TC, Bucan M, MacDonald ME, Zimmer M, Haines JL, Cheng SV, Pohl TM, Meyers RH, Whaley WL, Allitto BA, et al.
Science 238(4829):950-2. 1987
248D4S10, HD, HTT
Fine mapping of the Huntington disease linked to D4S10 locus by non-radioactive in situ hybridization.
Landegent JE, et al.
Hum Genet 73 : 354-357. 1986
249HD, HTT
Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization.
Magenis RE, et al.
Am J Hum Genet 39 : 383-391. 1986
250D4S10, HD, HTT
Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3.
Wang HS, Greenberg CR, Hewitt J, Kalousek D, Hayden MR.
Am J Hum Genet 39 : 392-396. 1986
251D4S10, HD, HTT
Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16-->p15.
Zabel BU, et al.
Cytogenet Cell Genet 42 : 187-190. 1986
252D4S10, HD, HTT
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families.
Youngman S, et al.
Hum Genet 73 : 333-339. 1986
253HD, HTT
Huntington disease-linked (HD) restriction fragment polymorphismlocalized to band p16 of chromosome 4 by in situ hybridization.
Magenis RE, et al.
(HGM8) Cytogenet Cell Genet 40 : 685. 1985
254D4S10, HD, HTT
Genetic linkage between the G8 locus (D4S10) and Huntington's diseasefamilies in Britain.
Youngman S, et al.
(HGM8) Cytogenet Cell Genet 40 : 786. 1985
255D4S10, HTT
Regional localization of a DNA polymorphism (D4S10) linked toHuntington's disease at 4p16-p15.
Zabel BU, et al.
(HGM8) Cytogenet Cell Genet 40 : 787. 1985
256HD, HTT
Huntington's disease: two families with differing clinical featuresshow linkage to the G8 probe.
Folstein SE, et al.
Science 229 : 776-779. 1985
257HD, HTT
Linkage analysis of Huntington's disease using RFLPs.
Gusella JF, et al.
(HGM7) Cytogenet Cell Genet 37 : 484-485. 1984
258HD, HTT
A polymorphic DNA marker genetically linked to Huntington's disease.
Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, et al.
Nature 306(5940):234-8. 1983