Sort   by:  
 Page size 
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
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
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
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
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
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 
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 
UnknownEmerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Not available
S-EPMC8199910 | biostudies-literature
GenomicsDevelopment and Validation of a Disability Severity Index for Charcot-Marie-Tooth Disease (CMT) - INC 6604
Development and Validation of a Disability Severity Index for Charcot-Marie-Tooth Disease (CMT) - INC 6604
PRJNA374388 | ENA
Sort   by:  
 Page size