Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1
Sign Up to like & getrecommendations! Published in 2019 at "Experimental Neurology"
DOI: 10.1016/j.expneurol.2019.113004
Abstract: Mutations in the GDAP1 mitochondrial outer membrane gene cause Charcot-Marie-. Tooth (CMT) neuropathy. Reduction or absence of GDAP1 has been associated with abnormal changes in the mitochondrial morphology and dynamics, oxidative stress and changes in… read more here.
Keywords: neuroinflammation; marie tooth; charcot marie; gdap1 ... See more keywords
A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1.
Sign Up to like & getrecommendations! Published in 2019 at "Mitochondrion"
DOI: 10.1016/j.mito.2019.01.002
Abstract: Mutations in genes involved in mitochondrial dynamics (fusion and fission) have been implicated in many peripheral neuropathies. We hypothesized that defects in these genes could result in a phenotype resembling features of small-fiber neuropathy (SFN).… read more here.
Keywords: genes involved; fiber neuropathy; small fiber; involved mitochondrial ... See more keywords
Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability
Sign Up to like & getrecommendations! Published in 2022 at "PLOS ONE"
DOI: 10.1101/2022.09.09.507262
Abstract: Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral polyneuropathy in humans, and its subtypes are linked to mutations in dozens of different genes, including the gene coding for ganglioside-induced differentiation-associated protein 1 (GDAP1). The… read more here.
Keywords: cmt linked; gdap1; protein stability; cmt ... See more keywords
One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.736704
Abstract: Background and Aims Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral neuropathies. The wide phenotypic variability may not be completely explained by a single mutation. Aims and Methods To explore… read more here.
Keywords: mfn2; charcot marie; mpz; gdap1 ... See more keywords