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Results: 1 to 20 of 103

1.

A novel RAB7 mutation in a Chinese family with Charcot-Marie-Tooth type 2B disease.

Wang X, Han C, Liu W, Wang P, Zhang X.

Gene. 2014 Jan 25;534(2):431-4.

PMID:
24498653
[PubMed - indexed for MEDLINE]
2.

A Novel RAB7 Mutation in a Chinese Family with Charcot-Marie-Tooth type 2B disease.

Wang X, Han C, Liu W, Wang P, Zhang X.

Gene. 2013 Oct 26. pii: S0378-1119(13)01418-2. doi: 10.1016/j.gene.2013.10.023. [Epub ahead of print]

PMID:
24513337
[PubMed - as supplied by publisher]
3.

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

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.

Am J Hum Genet. 2003 Mar;72(3):722-7. Epub 2003 Jan 21.

PMID:
12545426
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Molecular basis of Charcot-Marie-Tooth type 2B disease.

Bucci C, De Luca M.

Biochem Soc Trans. 2012 Dec 1;40(6):1368-72. doi: 10.1042/BST20120197.

PMID:
23176482
[PubMed - indexed for MEDLINE]
5.

Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease.

Spinosa MR, Progida C, De Luca A, Colucci AM, Alifano P, Bucci C.

J Neurosci. 2008 Feb 13;28(7):1640-8. doi: 10.1523/JNEUROSCI.3677-07.2008.

PMID:
18272684
[PubMed - indexed for MEDLINE]
Free Article
6.

Rab7 and the CMT2B disease.

Cogli L, Piro F, Bucci C.

Biochem Soc Trans. 2009 Oct;37(Pt 5):1027-31. doi: 10.1042/BST0371027. Review.

PMID:
19754445
[PubMed - indexed for MEDLINE]
7.

Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.

Janssens K, Goethals S, Atkinson D, Ermanoska B, Fransen E, Jordanova A, Auer-Grumbach M, Asselbergh B, Timmerman V.

Neurobiol Dis. 2014 May;65:211-9. doi: 10.1016/j.nbd.2014.01.021. Epub 2014 Feb 9.

PMID:
24521780
[PubMed - indexed for MEDLINE]
8.

A novel RAB7 mutation associated with ulcero-mutilating neuropathy.

Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.

Ann Neurol. 2004 Oct;56(4):586-90.

PMID:
15455439
[PubMed - indexed for MEDLINE]
9.

Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B.

De Luca A, Progida C, Spinosa MR, Alifano P, Bucci C.

Biochem Biophys Res Commun. 2008 Jul 25;372(2):283-7. doi: 10.1016/j.bbrc.2008.05.060. Epub 2008 May 21.

PMID:
18501189
[PubMed - indexed for MEDLINE]
10.

Phenotype of Charcot-Marie-Tooth disease Type 2.

Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreƫls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M.

Neurology. 2007 May 15;68(20):1658-67.

PMID:
17502546
[PubMed - indexed for MEDLINE]
11.

Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.

BasuRay S, Mukherjee S, Romero E, Wilson MC, Wandinger-Ness A.

PLoS One. 2010 Dec 9;5(12):e15351. doi: 10.1371/journal.pone.0015351.

PMID:
21151572
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.

Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F.

Neurology. 2006 Oct 24;67(8):1476-8.

PMID:
17060578
[PubMed - indexed for MEDLINE]
13.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
[PubMed - indexed for MEDLINE]
14.

The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway.

Yamauchi J, Torii T, Kusakawa S, Sanbe A, Nakamura K, Takashima S, Hamasaki H, Kawaguchi S, Miyamoto Y, Tanoue A.

J Neurosci Res. 2010 Nov 1;88(14):3189-97. doi: 10.1002/jnr.22460.

PMID:
20645406
[PubMed - indexed for MEDLINE]
15.

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.

Brain. 2011 Feb;134(Pt 2):608-17. doi: 10.1093/brain/awq374. Epub 2011 Jan 19.

PMID:
21252112
[PubMed - indexed for MEDLINE]
Free Article
16.

[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].

Zhang RX, Guo P, Ren ZJ, Zhao GH, Liu SM, Liu T, Zi XH, Hu ZM, Xia K, Tang BS.

Yi Chuan. 2010 Aug;32(8):817-23. Chinese.

PMID:
20709679
[PubMed - indexed for MEDLINE]
17.

Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.

Cogli L, Progida C, Thomas CL, Spencer-Dene B, Donno C, Schiavo G, Bucci C.

Acta Neuropathol. 2013 Feb;125(2):257-72. doi: 10.1007/s00401-012-1063-8. Epub 2012 Nov 23.

PMID:
23179371
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Rab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling.

BasuRay S, Mukherjee S, Romero EG, Seaman MN, Wandinger-Ness A.

J Biol Chem. 2013 Jan 11;288(2):1135-49. doi: 10.1074/jbc.M112.417766. Epub 2012 Nov 27.

PMID:
23188822
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling.

Zhang K, Fishel Ben Kenan R, Osakada Y, Xu W, Sinit RS, Chen L, Zhao X, Chen JY, Cui B, Wu C.

J Neurosci. 2013 Apr 24;33(17):7451-62. doi: 10.1523/JNEUROSCI.4322-12.2013.

PMID:
23616551
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.

McCray BA, Skordalakes E, Taylor JP.

Hum Mol Genet. 2010 Mar 15;19(6):1033-47. doi: 10.1093/hmg/ddp567. Epub 2009 Dec 22.

PMID:
20028791
[PubMed - indexed for MEDLINE]
Free PMC Article
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