Literature DB >> 17060578

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

F Meggouh1, H M E Bienfait, M A J Weterman, M de Visser, F Baas.   

Abstract

We report a 32-year-old patient with Charcot-Marie-Tooth (CMT2B) including foot ulcerations. Genetic analysis identified a de novo mutation in the small GTP-ase late endosomal RAB7 gene, consisting of a c.471G>C, p.Lys157Asn missense mutation. This observation strongly supports the hypothesis that RAB7 mutations are responsible for CMT2B.

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Year:  2006        PMID： 17060578     DOI： 10.1212/01.wnl.0000240068.21499.f5

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  45 in total

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Review 2.  Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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Review 3.  Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.

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4.  Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2.

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Review 5.  Role of Rab GTPases in membrane traffic and cell physiology.

Authors:  Alex H Hutagalung; Peter J Novick
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Review 6.  Rab GTPases, membrane trafficking and diseases.

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

Authors:  Kai Zhang; Rotem Fishel Ben Kenan; Yasuko Osakada; Wei Xu; Rachel S Sinit; Liang Chen; Xiaobei Zhao; Jia-Yun Chen; Bianxiao Cui; Chengbiao Wu
Journal:  J Neurosci       Date:  2013-04-24       Impact factor: 6.167

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

Authors:  Brett A McCray; Emmanuel Skordalakes; J Paul Taylor
Journal:  Hum Mol Genet       Date:  2009-12-22       Impact factor: 6.150

9.  Rab7 activation by growth factor withdrawal contributes to the induction of apoptosis.

Authors:  Kimberly Romero Rosales; Eigen R Peralta; Garret G Guenther; Susan Y Wong; Aimee L Edinger
Journal:  Mol Biol Cell       Date:  2009-04-22       Impact factor: 4.138

10.  Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Authors:  Annelies Rotthier; Jonathan Baets; Els De Vriendt; An Jacobs; Michaela Auer-Grumbach; Nicolas Lévy; Nathalie Bonello-Palot; Sara Sebnem Kilic; Joachim Weis; Andrés Nascimento; Marielle Swinkels; Moyo C Kruyt; Albena Jordanova; Peter De Jonghe; Vincent Timmerman
Journal:  Brain       Date:  2009-08-03       Impact factor: 13.501
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