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ProteomicsHDAC6 inhibition alleviates mitochondrial trafficking in novel models of Charcot-Marie-Tooth Disease Type 2A
Charcot-Marie-Tooth Disease (CMT) is a group of inherited progressive conditions affecting distal motor and sensory neurons, leading to muscle weakness, pain and loss of sensation in limbs. CMT type 2A (CMT2A) is the most common form of axonal CMT and is associated with a more severe clinical manife...
ORGANISM(S): Homo sapiens (Human) 
2026-06-15 | PXD077751 | Pride
Mitochondria Mitofusin-2 Charcot-marie-tooth disease type 2a 
TranscriptomicsRibo-seq of HEK293T overexpressing WT and G240R GARS
Charcot-Marie-Tooth (CMT) disease can be caused by mutations in Aminoacyl-tRNA-Synthetases, including G240R mutation in Glycyl-tRNA-Synthetase (GARS). Ribo-seq generates snapshots of translating ribosomes on mRNA and therefore allows analysis of ribosome pausing mRNA. Here we performed Ribo-seq on l...
ORGANISM(S): Homo sapiens 
2021-09-14 | E-MTAB-10342 | biostudies-arrayexpress
GenomicsCombined RNAinterfering and gene therapy targeting MFN2 for the treatment of Charcot-Marie-Tooth type 2A
Combined RNAinterfering and gene therapy targeting MFN2 for the treatment of Charcot-Marie-Tooth type 2A
PRJNA830527 | ENA
UnknownGenetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report.
Not available
S-EPMC11600610 | biostudies-literature
UnknownCharcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
Not available
S-EPMC1524942 | biostudies-literature
UnknownMFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A.
Not available
S-EPMC6109362 | biostudies-literature
TranscriptomicsCombined RNAinterfering and gene therapy targeting MFN2 for the treatment of Charcot-Marie-Tooth type 2A
Mitofusin-2 (MFN2) is an outer mitochondrial membrane protein essential for mitochondrial networking in most cells. Autosomal dominant mutations in the MFN2 gene cause Charcot-Marie-Tooth type 2A disease (CMT2A), a severe and disabling sensory-motor neuropathy with impact on the entire nervous syste...
ORGANISM(S): Mus musculus 
2023-11-29 | GSE201264 | GEO
UnknownMFN1 augmentation prevents retinal degeneration in a Charcot-Marie-Tooth type 2A mouse model.
Not available
S-EPMC10014277 | biostudies-literature
UnknownRestoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model.
Not available
S-EPMC6436852 | biostudies-literature
UnknownCharcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Not available
S-EPMC12516130 | biostudies-literature
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