| Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families. | Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.
Asif M, Chiou CC, Hussain MF, Hussain M, Sajid Z, Gulsher M, Raheem A, Khan A, Nasreen N, Kloczkowski A, Hassan M, Iqbal F, Chen CC., | 11/18/2023 |
| Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites. | Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
Cantarero L, García-Vargas G, Hoenicka J, Palau F., Free PMC Article | 08/11/2023 |
| Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1. | Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.
Sutinen A, Nguyen GTT, Raasakka A, Muruganandam G, Loris R, Ylikallio E, Tyynismaa H, Bartesaghi L, Ruskamo S, Kursula P., Free PMC Article | 07/9/2022 |
| GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton. | GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton.
Wolf C, Pouya A, Bitar S, Pfeiffer A, Bueno D, Rojas-Charry L, Arndt S, Gomez-Zepeda D, Tenzer S, Bello FD, Vianello C, Ritz S, Schwirz J, Dobrindt K, Peitz M, Hanschmann EM, Mencke P, Boussaad I, Silies M, Brüstle O, Giacomello M, Krüger R, Methner A., Free PMC Article | 06/11/2022 |
| Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A. | Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A.
Xue H, Maksemous N, Sidhom D, Ma L, Chen S, Wu J, Feng Y, M Haupt L, R Griffiths L. | 12/25/2021 |
| GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease. | GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.
Figueiredo FB, Silva WA Jr, Giuliatti S, Tomaselli PJ, Lourenço CM, Gouvêa SP, Covaleski APPM, Hallak JE, Marques W Jr. | 12/18/2021 |
| Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease. | Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.
Chen CX, Li JQ, Dong HL, Liu GL, Bai G, Wu ZY., Free PMC Article | 11/6/2021 |
| Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network. | Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.
Binięda K, Rzepnikowska W, Kolakowski D, Kaminska J, Szczepankiewicz AA, Nieznańska H, Kochański A, Kabzińska D., Free PMC Article | 09/11/2021 |
| Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease. | Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
Cantarero L, Juárez-Escoto E, Civera-Tregón A, Rodríguez-Sanz M, Roldán M, Benítez R, Hoenicka J, Palau F., Free PMC Article | 09/11/2021 |
| Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily. | Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.
Googins MR, Woghiren-Afegbua AO, Calderon M, St Croix CM, Kiselyov KI, VanDemark AP., Free PMC Article | 02/2/2021 |
| Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model. | Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.
Rzepnikowska W, Kaminska J, Kabzińska D, Kochański A., Free PMC Article | 02/2/2021 |
| [Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy]. | [Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy].
Liu C, Yan Y, Zhao J, Ha L, Xu X. | 11/21/2020 |
| Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes JP, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C, Bonello-Palot N. | 10/10/2020 |
| Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K is caused by homozygous or compound heterozygous mutation in the GDAP1 gene (606598) on chromosome 8q. | Association of SNP in JPH1 gene with severity of disease in Charcot Marie Tooth 2K patients.
Kanwal S, Perveen S. | 12/14/2019 |
| GDAP1 gene should be evaluated as Charcot-Marie-Tooth Disease causing variants in the Vietnamese population, predominantly axonal form of neuropathy in Charcot-Marie-Tooth Disease. | Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease.
Mai PT, Le DT, Nguyen TT, Le Gia HL, Nguyen Le TH, Le M, Do DM., Free PMC Article | 11/30/2019 |
| Study describes a deleterious mutation in GDAP1 gene outside of coding sequences or intronic junctions in Charcot-Marie-Tooth disease. | WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T. | 09/28/2019 |
| The distribution of patients with different GDAP1 mutations across Spain and to the clinical course and the genotype-phenotype correlation was described. | Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T., Free PMC Article | 05/4/2019 |
| The mutation of GDAP1 gene may be related to the pathogenesis of autosomal dominant AD-CMT in this pedigree. The newly discovered c.371A>G mutation (p.Y124C) expands the mutation spectrum of GDAP1 gene, but further study is needed to clarify the underlying pathogenesis. | [Analysis of GDAP1 gene mutation in a pedigree with autosomal dominant Charcot-Marie-Tooth disease].
Qin L, Yang C, Lü T, Li L, Zong D, Wu Y., Free PMC Article | 02/23/2019 |
| This study showed that the characterization of GDAP1associated Charcot-Marie-Tooth disease. | A role for the GDAP1 gene in the molecular pathogenesis of Charcot‑Marie‑Tooth disease.
Rzepnikowska W, Kochański A. | 09/22/2018 |
| Study expands the mutational spectrum of GDAP1-related Charcot-Marie-Tooth (CMT) disease with the identification of new and unreported GDAP1 variants and demonstrates the predominance of the axonal form of neuropathy in CMT disease associated with GDAP1; highlights the clinical characteristics associated with these genotypes and describe the relative frequency of GDAP1 variants amongst the Chinese population. | Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.
Pakhrin PS, Xie Y, Hu Z, Li X, Liu L, Huang S, Wang B, Yang Z, Zhang J, Liu X, Xia K, Tang B, Zhang R. | 08/25/2018 |
| Study shows that GDAP1 is indeed a GST enzyme, and demonstrates a specific GSH-conjugating activity in vitro which seems to be regulated by the hydrophobic domain 1 (HD1) exerting an autoinhibitory function. HD1 could adopt an amphipathic pattern necessary to induce remodeling of organelles-mimicking liposomes by Gdap1. | Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain.
Huber N, Bieniossek C, Wagner KM, Elsässer HP, Suter U, Berger I, Niemann A., Free PMC Article | 06/16/2018 |
| 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. | Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Yoshimura A, Yuan JH, Hashiguchi A, Hiramatsu Y, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Matsumura K, Hamano T, Sawaura N, Shimatani Y, Kumada S, Okumura Y, Miyahara J, Yamaguchi Y, Kitamura S, Haginoya K, Mitsui J, Ishiura H, Tsuji S, Takashima H. | 05/5/2018 |
| This study report an AD-CMT2K with large phenotypic variability due to a novel dominant GDAP1 variant. | Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.
García-Sobrino T, Blanco-Arias P, Palau F, Espinós C, Ramirez L, Estela A, San Millán B, Arias M, Sobrido MJ, Pardo J. | 03/17/2018 |
| GDAP1 hypomethylation can serve as a biomarker for alcohol dependence severity and treatment outcome. | Validation of differential GDAP1 DNA methylation in alcohol dependence and its potential function as a biomarker for disease severity and therapy outcome.
Brückmann C, Di Santo A, Karle KN, Batra A, Nieratschker V., Free PMC Article | 06/3/2017 |
| This study suggest GDAP1 as the first gene that should be analysed in Italian patients affected by CMT2. | GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
Pezzini I, Geroldi A, Capponi S, Gulli R, Schenone A, Grandis M, Doria-Lamba L, La Piana C, Cremonte M, Pisciotta C, Nolano M, Manganelli F, Santoro L, Mandich P, Bellone E. | 10/22/2016 |