Literature DB >> 11743580

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

Ana Cuesta1, Laia Pedrola, Teresa Sevilla, Javier García-Planells, María José Chumillas, Fernando Mayordomo, Eric LeGuern, Ignacio Marín, Juan J Vílchez, Francesc Palau.   

Abstract

We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.

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Year:  2001        PMID： 11743580     DOI： 10.1038/ng798

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  93 in total

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2.  GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.

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Review 3.  The clinical maze of mitochondrial neurology.

Authors:  Salvatore DiMauro; Eric A Schon; Valerio Carelli; Michio Hirano
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Review 4.  Mitochondrial dynamics in neuronal injury, development and plasticity.

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5.  WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.

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Review 6.  [Genetics of neuropathies].

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7.  Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

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Journal:  Neurogenetics       Date:  2009-03-17       Impact factor: 2.660

Review 8.  Mitochondrial fragmentation in neurodegeneration.

Authors:  Andrew B Knott; Guy Perkins; Robert Schwarzenbacher; Ella Bossy-Wetzel
Journal:  Nat Rev Neurosci       Date:  2008-07       Impact factor: 34.870

9.  Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Authors:  Mari Auranen; Emil Ylikallio; Jussi Toppila; Mirja Somer; Sari Kiuru-Enari; Henna Tyynismaa
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10.  Autosomal recessive forms of Charcot-Marie-Tooth disease.

Authors:  J M Vallat; D Grid; C Magdelaine; F Sturtz; M Tazir
Journal:  Curr Neurol Neurosci Rep       Date:  2004-09       Impact factor: 5.081
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