Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease
نویسندگان
چکیده
منابع مشابه
THE CHARCOT-MARIE-TOOTH RELATED GENE GDAP1 COMPLEMENTS CELL CYCLE DELAY AT G2/M IN S. cerevisiae fis1 DEFECTIVE CELLS
From the Genetics and Molecular Medicine Unit, Instituto de Biomedicina de Valencia-CSIC, C/ Jaume Roig, 11, 46010, Valencia, Spain, CIBER de Enfermedades Raras (CIBERER), C/ Álvaro de Bazán, 10 bajo, 46010, Valencia, Spain, and the Department of Cell Biology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. Running title: GDAP1 complements fis1Δ phenotype in S. cerevisiae. ...
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Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT), indicating that GDAP1 is essential for the viability of cells in the peripheral nervous system. GDAP1 contains domains characteristic of glutathione-S-transferases (GSTs), is located in the outer mitochondrial membrane and induces fragmentation of mitochondria. We found GDA...
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BACKGROUND Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. OBJECTIVE We describe physical and histological fe...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2020
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddaa243