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TranscriptomicsExpression data from Gdap1 knock-out (deletion of exon 5) mice
GDAP1 is a mitochondrial fission factor and mutations in GDAP1 cause Charcot-Marie-Tooth disease. Gdap1 knockout mice, mimicking genetic alterations of patients suffering from severe CMT forms, develop an age-related, hypomyelinating peripheral neuropathy. We used microarrays to determine changes in...
ORGANISM(S): Mus musculus 
2014-01-03 | E-GEOD-51650 | biostudies-arrayexpress
TranscriptomicsExpression data from a Charcot-Marie-Tooth 1B neuropathy mouse model
We have generated mouse models of real CMT1B mutations in the gene encoding for myelin protein zero (P0). One of these mutants, P0S63del is retained in the ER where it elicits an unfolded protein response (UPR). Genetic ablation of the UPR factor CHOP restores the motor capacity in S63del mice. We u...
ORGANISM(S): Mus musculus 
2013-05-01 | E-GEOD-40610 | biostudies-arrayexpress
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
ProteomicsTransfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth Disease
Aminoacyl-tRNA synthetases are indispensable enzymes in all cells, ensuring the correct pairing of amino acids to their cognate tRNAs to maintain translational fidelity. Autosomal dominant mutations V133F and Y330C in histidyl-tRNA synthetase (HARS) cause the genetic disorder Charcot-Marie-Tooth typ...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2025-05-06 | PXD050340 | Pride
Mistranslation Proteomics Charcot-marie-tooth disease 
GenomicsGenomic Studies in Charcot-Marie-Tooth Disease
Genomic Studies in Charcot-Marie-Tooth Disease
PRJNA1006093 | ENA
GenomicsGenomic Studies in Charcot-Marie-Tooth Disease
Genomic Studies in Charcot-Marie-Tooth Disease
PRJNA1006094 | ENA
GenomicsWhole exome sequencing for clarification of rare causes of axonal Charcot Marie Tooth disease
The project is focused on the axonal forms of Charcot-Marie-Tooth (CMT) disease. We have selected 13 families (7 from Spain and 6 from Czech Republic) that have been indepth clinically assessed and previously tested for mutations in known CMT genes without causal variants characterised. In these p...
EGAS00001002067 | EGA
ProteomicsPhenotypic rescue of a novel heterozygous HARS L400F variant associated with Charcot-Marie-Tooth disease
Cytoplasmic histidyl-tRNA synthetase (HARS1) is an essential protein in translation ligating histidine to its cognate tRNAHis. HARS1 is one of several aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth Disease, an axonal peripheral neuropathy. Advances in genetic testing identify many var...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2026-03-02 | PXD067079 | Pride
Histidyl-trna synthetase Protein translation Charcot-marie-tooth disease 
ProteomicsHistidine supplementation can escalate or rescue HARS deficiency in a Charcot Marie Tooth Disease model
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes responsible for charging amino acids onto cognate tRNAs during protein synthesis¬. In histidyl-tRNA synthetase (HARS), autosomal dominant mutations in the HARS catalytic domain are associated with Charcot Marie Tooth Disease Type 2W (CMT2W), wh...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2023-03-10 | PXD034865 | Pride
Histidyl-trna synthetase (hars) Transfer rna Genetic disease Proteome Protein synthesis 
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 
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