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GDAP1 encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development.
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Human Polyclonal GDAP1 Primary Antibody für ELISA, WB - ABIN565729
Cassereau, Chevrollier, Gueguen, Malinge, Letournel, Nicolas, Richard, Ferre, Verny, Dubas, Procaccio, Amati-Bonneau, Bonneau, Reynier: Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). in Neurogenetics 2009
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Study shows that GDAP1 is indeed a GST (zeige SLCO6A1 Antikörper) enzyme, and demonstrates a specific GSH-conjugating activity in vitro which seems to be regulated by the hydrophobic domain 1 (HD1 (zeige HDAC1 Antikörper)) exerting an autoinhibitory function. HD1 (zeige HDAC1 Antikörper) could adopt an amphipathic pattern necessary to induce remodeling of organelles-mimicking liposomes by Gdap1.
We identified GDAP1 variants in approximately 1% of our cohort with IPNs, and established a founder mutation in half of these patients. Our study originally described the mutational spectrum and clinical features of GDAP1-related CMT patients in Japan.
This study report an AD-CMT2K with large phenotypic variability due to a novel dominant GDAP1 variant.
GDAP1 hypomethylation can serve as a biomarker for alcohol dependence severity and treatment outcome.
This study suggest GDAP1 as the first gene that should be analysed in Italian patients affected by CMT2.
study reports on 2 Charcot-Marie-Tooth (CMT) families in which a newly identified Glu222Lys mutation within the GDAP1 gene segregates both in autosomal dominant and recessive traits
The novelty of our data is the relatively high frequency of SH3TC2 (zeige SH3TC2 Antikörper) and GDAP1 mutations in demyelinating and axonal forms, respectively, of Charcot-Marie-Tooth disease
Results show that JPH1 (zeige JPH1 Antikörper) and GDAP1 share a common pathway and depend on each other; therefore, JPH1 (zeige JPH1 Antikörper) can contribute to the phenotypical consequences of GDAP1 mutations.
GDAP1-associated polyneuropathy caused predominantly a mild and slowly progressive phenotype.
This studies suggest that the pathophysiology of GDAP1-related CMT neuropathies may be associated with abnormal distribution and movement of mitochondria throughout cytoskeleton towards the ER and subplasmalemmal microdomains.
absence of GDAP1 induces a peripheral neuropathy with loss of motor neurons, mitochondrial defects and abnormal calcium homeostasis.
Members of the GDAP1 family are responsive and protective against stress associated with increased levels of oxidized glutathione.
Cell expression of Gdap1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease are reported.
This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene.
ganglioside-induced differentiation-associated protein 1
, Charcot-Marie-Tooth neuropathy 4A
, ganglioside differentiation associated protein 1