Associated Papers
Relationships of GDAP1 Mutations to Disease Phenotype and Mechanisms of Therapeutic Action of Oxidative Metabolism Activators in a Patient with Charcot-Marie-Tooth Neuropathy Type 2K.
Borisova NR et al.
Biochemistry. Biokhimiia, 2025
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.
Van Lent J et al.
Experimental & Molecular Medicine, 2024
The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?
Kabzińska D et al.
Genes, 2022
Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.
Sutinen A et al.
Febs Open Bio, 2022
35509130 (PubMed )
Supplement: FEB4-12-1306-s001.xlsx › All_mutations
GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton.
Wolf C et al.
Communications Biology, 2022
Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.
Binięda K et al.
International Journal of Molecular Sciences, 2021
Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
Noack R et al.
Human Molecular Genetics, 2012
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Cassereau J et al.
Experimental Neurology, 2011
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Kabzińska D et al.
Neurogenetics, 2010
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