Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.R120Q
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GDAP1

NM_018972.4:p.R120Q

Associated Papers

Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.

Cantarero L et al.

Biology Open, 2023

Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability.

Sutinen A et al.

Plos One, 2023

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

Structure of the Complete Dimeric Human GDAP1 Core Domain Provides Insights into Ligand Binding and Clustering of Disease Mutations.

Nguyen GTT et al.

Frontiers in Molecular Biosciences, 2020

CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.

González-Sánchez P et al.

Scientific Reports, 2017

Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain.

Huber N et al.

Scientific Reports, 2016

Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry.

Pla-Martín D et al.

Neurobiology of Disease, 2013

Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.

Huber N et al.

Embo Reports, 2013

Mitochondria and peripheral neuropathies.

Vital A et al.

Journal of Neuropathology and Experimental Neurology, 2012

Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

Noack R et al.

Human Molecular Genetics, 2012

Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.

Estela A et al.

The Journal of Biological Chemistry, 2011

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.

Zimoń M et al.

Neurology, 2011

The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.

Fusco C et al.

Journal of Child Neurology, 2011

Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis.

Benson B et al.

The Laryngoscope, 2010

GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.

Niemann A et al.

Neurobiology of Disease, 2009

The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease.

Palau F et al.

Advances in Experimental Medicine and Biology, 2009

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

Sevilla T et al.

Brain : a Journal of Neurology, 2008

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.

Pedrola L et al.

Journal of Cellular and Molecular Medicine, 2008

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.

Kabzińska D et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

Georgiou DM et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.

Niemann A et al.

The Journal of Cell Biology, 2005

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

Pedrola L et al.

Human Molecular Genetics, 2005

Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.

Marco A et al.

Molecular Biology and Evolution, 2004

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.

De Sandre-Giovannoli A et al.

Journal of Medical Genetics, 2003

CMT4A: identification of a Hispanic GDAP1 founder mutation.

Boerkoel CF et al.

Annals of Neurology, 2003

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