| 1 | ATN1, CHEDDA
|
| De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
|
| Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST.
|
| Am J Hum Genet 104(3):542-552. doi: 10.1016/j.ajhg.2019.01.013. Epub 2019 Feb 28. Erratum in: Am J Hum Genet. 2019 Apr 4;104(4):778.
2019
|
| 2 | ATN1, 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
|
| 3 | ATN1, DRPLA
|
| Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil.
|
| Braga-Neto P, Pedroso JL, Furtado GV, Gheno TC, Saraiva-Pereira ML, Jardim LB, Barsottini OGP; Rede Neurogenetica.
|
| Cerebellum 16(4):812-816. doi: 10.1007/s12311-017-0862-9.
2017
|
| 4 | ATN1, KDM1A
|
| Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance.
|
| Zhang F, Xu D, Yuan L, Sun Y, Xu Z.
|
| Nat Commun 5:5815. doi: 10.1038/ncomms6815.
2014
|
| 5 | ATN1
|
| Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs.
|
| Hu J, Liu J, Narayanannair KJ, Lackey JG, Kuchimanchi S, Rajeev KG, Manoharan M, Swayze EE, Lima WF, Prakash TP, Xiang Q, Martinez C, Corey DR.
|
| Biochemistry 53(28):4510-8. doi: 10.1021/bi500610r. Epub 2014 Jul 11.
2014
|
| 6 | ATN1
|
| Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein.
|
| Suzuki Y, Jin C, Yazawa I.
|
| Neurosci Lett 552:156-61. doi: 10.1016/j.neulet.2013.07.043. Epub 2013 Aug 7.
2013
|
| 7 | ATN1, DRPLA
|
| Dentatorubral-pallidoluysian atrophy.
|
| Tsuji S.
|
| Handb Clin Neurol 103:587-94. Review.
2012
|
| 8 | ATN1, DRPLA
|
| Differential clinical features in a pair of monozygotic twins with dentatorubropallidoluysian atrophy.
|
| Sato K, Yunoki T, Morimoto N, Nagotani S, Deguchi K, Takehisa Y, Ikeda Y, Matsuura T, Abe K, Yamamoto Y.
|
| Eur J Neurol 18(8):e100-1. doi: 10.1111/j.1468-1331.2011.03427.x. No abstract available.
2011
|
| 9 | ATN1, DRPLA
|
| Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy.
|
| Suzuki Y, Nakayama K, Hashimoto N, Yazawa I.
|
| FEBS J 277(23):4873-87. doi: 10.1111/j.1742-4658.2010.07893.x. Epub 2010 Oct 26.
2010
|
| 10 | ATN1
|
| Neurodegeneration by polyglutamine Atrophin is not rescued by induction of autophagy.
|
| Nisoli I, Chauvin JP, Napoletano F, Calamita P, Zanin V, Fanto M, Charroux B.
|
| Cell Death Differ 17(10):1577-87. Epub 2010 Mar 26.
2010
|
| 11 | ATN1, FAT1, RERE
|
| Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells.
|
| Hou R, Sibinga NE.
|
| J Biol Chem 284(11):6955-65. Epub 2009 Jan 7.
2009
|
| 12 | ATN1, DRPLA
|
| C-terminal deletion of the atrophin-1 protein results in growth retardation but not neurodegeneration in mice.
|
| Yu J, Ying M, Zhuang Y, Xu T, Han M, Wu X, Xu R.
|
| Dev Dyn 238(10):2471-8.
2009
|
| 13 | ATN1, RERE
|
| Atrophin proteins: an overview of a new class of nuclear receptor corepressors.
|
| Wang L, Tsai CC.
|
| Nucl Recept Signal 6:e009. Epub 2008 Oct 31. Review.
2008
|
| 14 | ATN1, RERE
|
| Functional architecture of atrophins.
|
| Shen Y, Lee G, Choe Y, Zoltewicz JS, Peterson AS.
|
| J Biol Chem 282(7):5037-44. Epub 2006 Dec 6.
2007
|
| 15 | SCA1, ATXN1, SCA2, ATXN2, MJD, ATXN3, SCA6, CACNA1A, SCA7, ATXN7, SCA17, TBP, DRPLA, ATN1, SBMA, AR
|
| Transcriptional alterations and chromatin remodeling in polyglutamine diseases.
|
| Helmlinger D, Tora L, Devys D.
|
| Trends Genet 22(10):562-70. Epub 2006 Sep 5. 2006
|
| 16 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
|
| Diseases of unstable repeat expansion: mechanisms and common principles.
|
| Gatchel JR, Zoghbi HY.
|
| Nat Rev Genet 6(10):743-55. Review. 2005
|
| 17 | ATN1
|
| Frequent occurrence of protein isoforms with or without a single amino acid residue by subtle alternative splicing: the case of Gln in DRPLA affects subcellular localization of the products.
|
| Tadokoro K, Yamazaki-Inoue M, Tachibana M, Fujishiro M, Nagao K, Toyoda M, Ozaki M, Ono M, Miki N, Miyashita T, Yamada M.
|
| J Hum Genet 50(8):382-94. Epub 2005 Aug 10. 2005
|
| 18 | ATN1
|
| Drosophila atrophin homolog functions as a transcriptional corepressor in multiple developmental processes.
|
| Zhang S, Xu L, Lee J, Xu T.
|
| Cell 108(1):45-56. 2002
|
| 19 | ATN1
|
| Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis.
|
| Watanabe H, Tanaka F, Doyu M, Riku S, Yoshida M, Hashizume Y, Sobue G.
|
| Hum Genet 107(5):452-7. 2000
|
| 20 | ATN1
|
| Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.
|
| Yanagisawa H, Bundo M, Miyashita T, Okamura-Oho Y, Tadokoro K, Tokunaga K, Yamada M.
|
| Hum Mol Genet 9(9):1433-42. 2000
|
| 21 | ATN1
|
| Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA) : the instability of the CAG repeat in the DRPLA gene is prominent among the CAG repeat diseases.
|
| Takiyama Y, et al.
|
| Hum Mol Genet 8 : 453-457. 1999
|
| 22 | ATN1
|
| Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis.
|
| Sato A, et al.
|
| Hum Mol Genet 8(6):997-1006. 1999
|
| 23 | BAIAP2, ATN1
|
| Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate.
|
| Okamura-Oho Y, et al.
|
| Hum Mol Genet 8(6):947-57. 1999
|
| 24 | ATN1, EBVIR3
|
| The characterization and sequence analysis of thirty CTG-repeat containing genomic cosmid clones.
|
| Philibert RA, et al.
|
| Eur J Hum Genet 6 : 89-94. 1998
|
| 25 | ATN1, SPG7
|
| Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
|
| Casari G, et al.
|
| Cell 93 : 973-983. 1998
|
| 26 | ATN1, ATXN1, SCA2, SCA6
|
| Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
|
| Takano H, et al.
|
| Am J Hum Genet 63 : 1060-1066. 1998
|
| 27 | ATN1
|
| Expanded glutamine repeat enhances complex formation of dentatorubral-pallidoluysian atrophy (DRPLA) protein in human brains.
|
| Yazawa I, et al.
|
| Biochem Biophys Res Commun 250(1):22-6. 1998
|
| 28 | ATN1, AUTS2, WWP2, MAGI1, WWP1
|
| Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins.
|
| Wood JD, Yuan J, Margolis RL, Colomer V, Duan K, Kushi J, Kaminsky Z, Kleiderlein JJ, Sharp AH, Ross CA.
|
| Mol Cell Neurosci 11(3):149-60. 1998
|
| 29 | ATN1
|
| Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy.
|
| Alford RL, et al.
|
| Hum Genet 99 : 354-356. 1997
|
| 30 | ATN1
|
| Regional and cellular expression of the dentatorubral-pallidoluysian atrophy gene in brains of normal and affected individuals.
|
| Nishiyama K, Nakamura K, Murayama S, Yamada M, Kanazawa I.
|
| Ann Neurol 41(5):599-605. 1997
|
| 31 | ATN1, MJD, ATXN1
|
| Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxia : dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1.
|
| Hashida H, et al.
|
| Ann Neurol 41 : 505-511. 1997
|
| 32 | ATN1, ATN1
|
| Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia.
|
| Kurohara K, et al.
|
| Neurology 48 : 1087-1090. 1997
|
| 33 | ATN1
|
| Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings.
|
| Koide R, Onodera O, Ikeuchi T, Kondo R, Tanaka H, Tokiguchi S, Tomoda A, Miike T, Isa F, Beppu H, Shimizu N, Watanabe Y, Horikawa Y, Shimohata T, Hirota K, Ishikawa A, Tsuji S.
|
| Neurology 49(6):1605-12. 1997
|
| 34 | ATN1, SPG16
|
| Evidence of a third locus in X-linked recessive spastic paraplegia.
|
| Steinmuller R, Lantigua-Cruz A, Garcia-Garcia R, Kostrzewa M, Steinberger D, Muller U.
|
| Hum Genet 100(2):287-9. 1997
|
| 35 | ATN1, 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
|
| 36 | ATN1, VWF, PTHLH
|
| Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping.
|
| Kuwano A, et al.
|
| Hum Genet 97 : 95-98. 1996
|
| 37 | ATN1
|
| The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA) : diagnostic implications of confirmatory and predictive testing.
|
| Potter NT.
|
| J Med Genet 33 : 168-170. 1996
|
| 38 | ATN1
|
| A unique origin and multistep process for the generation of expanded DRPLA triplet repeats.
|
| Yanagisawa H, et al.
|
| Hum Mol Genet 5 : 373-379. 1996
|
| 39 | ATN1
|
| Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p13.31 by fluorescence in situ hybridization.
|
| Takano T, et al.
|
| Genomics 32 : 171-172. 1996
|
| 40 | ATN1, ATXN3
|
| Non-mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease : the mutant allele is preferentially transmitted in male meiosis.
|
| Ikeuchi T, et al.
|
| Am J Hum Genet 58 : 730-733. 1996
|
| 41 | ATN1
|
| Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy : cellular population-dependent dynamics of mitotic instability.
|
| Takano H, et al.
|
| Am J Hum Genet 58 : 1212-1222. 1996
|
| 42 | ATN1
|
| DRPLA gene (atrophin-1) sequence and mRNA expression in human brain.
|
| Margolis RL, Li SH, Young WS, Wagster MV, Stine OC, Kidwai AS, Ashworth RG, Ross CA.
|
| Brain Res Mol Brain Res 36(2):219-26. 1996
|
| 43 | ATN1
|
| Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.
|
| Nšrremšlle A, et al.
|
| Hum Genet 95 : 313-318. 1995
|
| 44 | ATN1
|
| Dentatorubral-pallidoluysian atrophy : clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat.
|
| Ikeuchi T, et al.
|
| Ann Neurol 37 : 769-775. 1995
|
| 45 | ATN1
|
| Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysianatrophy and regional expressions of the expanded alleles in the CNS.
|
| Onodera O, et al.
|
| Am J Hum Genet 57 : 1050-1060. 1995
|
| 46 | ATN1
|
| DNA analysis in hereditary dentatorubral-pallidoluysian atrophy : correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.
|
| Komure O, et al.
|
| Neurology 45 : 143-149. 1995
|
| 47 | ATN1
|
| Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA).
|
| Ueno SI, et al.
|
| Hum Mol Genet 4 : 663-666. 1995
|
| 48 | ATN1
|
| A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families.
|
| Warner TT, et al.
|
| Ann Neurol 37 : 452-459. 1995
|
| 49 | ATN1
|
| Normal CAG repeat variation at the DRPLA locus in world populations.
|
| Deka R, et al.
|
| Am J Hum Genet 57 : 508-511. 1995
|
| 50 | ATN1
|
| Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain.
|
| Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I.
|
| Nat Genet 10(1):99-103. 1995
|
| 51 | ATN1, ATXN3
|
| Is DRPLA also linked to 14q?
|
| Cancel G, et al.
|
| Nat Genet 6 : 8. 1994
|
| 52 | ATN1
|
| Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.
|
| Nagafuchi S, et al.
|
| Nat Genet 6 : 14-18. 1994
|
| 53 | ATN1
|
| Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
|
| Koide R, et al.
|
| Nat Genet 6 : 9-13. 1994
|
| 54 | ATN1
|
| The Haw River syndrome : dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.
|
| Burke JR, et al.
|
| Nat Genet 7 : 521-524. 1994
|
| 55 | ATN1
|
| Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA).
|
| Nagafuchi S, et al.
|
| Nat Genet 8 : 177-182. 1994
|