| 1 | CMT4A, GDAP1
|
| Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.
|
| Huber N, Guimaraes S, Schrader M, Suter U, Niemann A.
|
| EMBO Rep 14(6):545-52. doi: 10.1038/embor.2013.56. Epub 2013 Apr 30.
2013
|
| 2 | GDAP1, RAB6B
|
| Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry.
|
| Pla-Martín D, Rueda CB, Estela A, Sánchez-Piris M, González-Sánchez P, Traba J, de la Fuente S, Scorrano L, Renau-Piqueras J, Alvarez J, Satrústegui J, Palau F.
|
| Neurobiol Dis 55:140-51. doi: 10.1016/j.nbd.2013.03.010. Epub 2013 Mar 28. 2013
|
| 3 | CMT4A, GDAP1
|
| Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
|
| Noack R, Frede S, Albrecht P, Henke N, Pfeiffer A, Knoll K, Dehmel T, Meyer Zu Hörste G, Stettner M, Kieseier BC, Summer H, Golz S, Kochanski A, Wiedau-Pazos M, Arnold S, Lewerenz J, Methner A.
|
| Hum Mol Genet 21(1):150-62. doi: 10.1093/hmg/ddr450. Epub 2011 Sep 28.
2012
|
| 4 | CMT2K, CMT4A, GDAP1
|
| Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
|
| Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A.
|
| Neurology 77(6):540-8. Epub 2011 Jul 13. 2011
|
| 5 | CMT4A, GDAP1
|
| The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
|
| Lin KP, Soong BW, Yang CC, Huang LW, Chang MH, Lee IH, Antonellis A, Lee YC.
|
| PLoS One 6(12):e29393. doi: 10.1371/journal.pone.0029393. Epub 2011 Dec 19. Erratum in: PLoS One. 2012;7(1). doi:10.1371/annotation/23743 2011
|
| 6 | CMT4A, GDAP1
|
| Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.
|
| Estela A, Pla-Martín D, Sánchez-Piris M, Sesaki H, Palau F.
|
| J Biol Chem 286(42):36777-86. doi: 10.1074/jbc.M111.260042. Epub 2011 Sep 2.
2011
|
| 7 | CMT2K, GDAP1
|
| The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
|
| Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT.
|
| J Med Genet 47(10):712-6. Epub 2010 Aug 3.
2010
|
| 8 | CMT2K, CMT4A, GDAP1
|
| GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.
|
| Niemann A, Wagner KM, Ruegg M, Suter U.
|
| Neurobiol Dis 36(3):509-20. Epub 2009 Sep 25.PMID: 19782751 2009
|
| 9 | CMT4A, GDAP1
|
| Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.
|
| Moroni I, Morbin M, Milani M, Ciano C, Bugiani M, Pagliano E, Cavallaro T, Pareyson D, Taroni F.
|
| Neuromuscul Disord 19(7):476-80. Epub 2009 Jun 4.PMID: 19500985 2009
|
| 10 | CMT2K, GDAP1
|
| Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).
|
| Sahin-Calapoglu N, Tan M, Soyoz M, Calapoglu M, Ozcelik N.
|
| Neuromolecular Med 11(2):106-13. Epub 2009 Apr 19.PMID: 19381883 2009
|
| 11 | GDAP1, YY1
|
| YY1-dependent transcriptional regulation of the human GDAP1 gene.
|
| Ratajewski M, Pulaski L.
|
| Genomics 94(6):407-13. Epub 2009 Aug 29.PMID: 19720140 2009
|
| 12 | CMT2K, GDAP1
|
| A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
|
| Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H.
|
| Clin Genet 74(3):274-8. Epub 2008 May 19.
2008
|
| 13 | CMT4A, GDAP1
|
| Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.
|
| Pedrola L, Espert A, Valdés-Sánchez T, Sánchez-Piris M, Sirkowski EE, Scherer SS, Fariñas I, Palau F.
|
| J Cell Mol Med 12(2):679-89. Epub 2007 Nov 16.PMID: 18021315 2008
|
| 14 | CMT4A, GDAP1
|
| A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.
|
| Bouhouche A, Birouk N, Benomar A, Ouazzani R, Chkili T, Yahyaoui M.
|
| Can J Neurol Sci 34(4):421-6.PMID: 18062449 2007
|
| 15 | GDAP1
|
| Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase.
|
| Shield AJ, Murray TP, Board PG.
|
| Biochem Biophys Res Commun 347(4):859-66. Epub 2006 Jul 20. 2006
|
| 16 | GDAP1, CMT4A
|
| A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
|
| Kabzi–ska D, Kocha–ski A, Drac H, Rowi–ska-Marci–ska K, Ryniewicz B, Pedrola L, Palau F, Hausmanowa-Petrusewicz I.
|
| J Neurol Sci 241(1-2):7-11. Epub 2005 Dec 15. 2006
|
| 17 | GDAP1, CMT4A, CMT2K
|
| GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
|
| Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C.
|
| J Neurol 253(9):1234-5. Epub 2006 Apr 10. No abstract available. 2006
|
| 18 | CMT4A, GDAP1
|
| Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
|
| Claramunt R, Pedrola L, Sevilla T, Lopez de Munain A, Berciano J, Cuesta A, Sanchez-Navarro B, Millan JM, Saifi GM, Lupski JR, Vilchez JJ, Espinos C, Palau F.
|
| J Med Genet 42(4):358-65. No abstract available. 2005
|
| 19 | GDAP1, CMT4A
|
| GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
|
| Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F.
|
| Hum Mol Genet 14(8):1087-94. Epub 2005 Mar 16. 2005
|
| 20 | CMT4A, GDAP1
|
| Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
|
| Kabzinska D, Kochanski A, Drac H, Ryniewicz B, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I.
|
| Neuropediatrics 36(3):206-9. 2005
|
| 21 | GDAP1, CMT4A
|
| Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
|
| Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, Vermersch P.
|
| Neuromuscul Disord 14(4):261-4. 2004
|
| 22 | GDAP1, CMT4A
|
| A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.
|
| Di Maria E, Gulli R, Balestra P, Cassandrini D, Pigullo S, Doria-Lamba L, Bado M, Schenone A, Ajmar F, Mandich P, Bellone E.
|
| J Neurol Neurosurg Psychiatry 75(10):1495-8. 2004
|
| 23 | CMT2K, GDAP1
|
| Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
|
| Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E.
|
| Arch Neurol 60(4):598-604. 2003
|
| 24 | CMT2K, CMT4A, GDAP1
|
| Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
|
| Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vilchez JJ.
|
| Brain 126(Pt 9):2023-33. Epub 2003 Jun 23. 2003
|
| 25 | GDAP1, CMT4A
|
| Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
|
| Ammar N, Nelis E, Merlini L, Barisic N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P.
|
| Neuromuscul Disord 13(9):720-8. 2003
|
| 26 | CMT4A, GDAP1
|
| The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
|
| Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marin I, Vilchez JJ, Palau F.
|
| Nat Genet 30(1):22-5. 2002
|
| 27 | CMT4A, GDAP1
|
| Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
|
| Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM.
|
| Nat Genet 30(1):21-2. 2002
|