| 1 | CMT2B, RAB7A
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| Rab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling.
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| BasuRay S, Mukherjee S, Romero EG, Seaman MN, Wandinger-Ness A.
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| J Biol Chem 288(2):1135-49. doi: 10.1074/jbc.M112.417766. Epub 2012 Nov 27.
2013
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| 2 | CMT2B, PRPH, RAB7A
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| Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin
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| Cogli L, Progida C, Thomas CL, Spencer-Dene B, Donno C, Schiavo G, Bucci C.
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| Acta Neuropathol. Feb;125(2):257-72. doi: 10.1007/s00401-012-1063-8. Epub 2012 Nov 23. 2013
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| 3 | CMT2B, RAB7A
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| Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.
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| McCray BA, Skordalakes E, Taylor JP.
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| Hum Mol Genet 19(6):1033-47. Epub 2009 Dec 22.PMID: 20028791 2010
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| 4 | RAB7A, CMT2B
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| Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B.
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| De Luca A, Progida C, Spinosa MR, Alifano P, Bucci C.
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| Biochem Biophys Res Commun 372(2):283-7. Epub 2008 May 21. 2008
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| 5 | CMT2B, RAB7A
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| Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease.
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| Spinosa MR, Progida C, De Luca A, Colucci AM, Alifano P, Bucci C.
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| J Neurosci 28(7):1640-8.
2008
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| 6 | CMT2B, RAB7A
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| Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
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| Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F.
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| Neurology 67(8):1476-8.
2006
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| 7 | CMT2B, RAB7A
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| A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
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| Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.
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| Ann Neurol 56(4):586-90. 2004
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| 8 | CMT2B, RAB7A
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| Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
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| Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V.
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| Am J Hum Genet 72(3):722-7. 2003
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| 9 | BPES, CMT2B, MBS2, SOX14
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| Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.
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| Hargrave M, James K, Nield K, Toomes C, Georgas K, Sullivan T, Verzijl HT, Oley CA, Little M, De Jonghe P, Kwon JM, Kremer H, Dixon MJ, Timmerman V, Yamada T, Koopman P.
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| Hum Genet 106(4):432-9. 2000
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| 10 | CMT2B
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| Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.
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| Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V.
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| Neurology 55(10):1552-7. 2000
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| 11 | CMT2B
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| Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.
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| De Jonghe P, Timmerman V, FitzPatrick D, Spoelders P, Martin JJ, Van Broeckhoven C.
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| J Neurol Neurosurg Psychiatry 62(6):570-3. 1997
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| 12 | CMT2B
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| Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as a Charcot-Marie-Tooth disease, type 2B.
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| Vance JM, et al.
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| Am J Hum Genet 59 : 258-260. 1996
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| 13 | CMT2B
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| Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
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| Kwon JM, et al.
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| Am J Hum Genet 57 : 853-858. 1995
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