The Gdap1 knockout mouse mechanistically links redox control to Charcot–Marie–Tooth disease
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منابع مشابه
The Gdap1 knockout mouse mechanistically links redox control to Charcot–Marie–Tooth disease
The ganglioside-induced differentiation-associated protein 1 (GDAP1) is a mitochondrial fission factor and mutations in GDAP1 cause Charcot-Marie-Tooth disease. We found that Gdap1 knockout mice (Gdap1(-/-)), mimicking genetic alterations of patients suffering from severe forms of Charcot-Marie-Tooth disease, develop an age-related, hypomyelinating peripheral neuropathy. Ablation of Gdap1 expre...
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Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane, cause axonal recessive (AR-CMT2), axonal dominant (CMT2K) and demyelinating recessive (CMT4A) forms of Charcot-Marie-Tooth (CMT) neuropathy. Loss of function recessive mutations in GDAP1 are associated with decreased mitochondrial fission activity, while dominant mutations result in impairment of mitochondria...
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ژورنال
عنوان ژورنال: Brain
سال: 2014
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awt371