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ProteomicsDiverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules
Complex diseases often involve the interplay between genetic and environmental factors. Charcot-Marie-Tooth type 2 neuropathies (CMT2) are a group of genetically heterogeneous disorders, in which similar peripheral neuropathology is inexplicably caused by various mutated genes. Their possible molecu...
ORGANISM(S): Homo Sapiens 
2022-12-13 | PXD038754 |
GenomicsNon-CG methylation patterns shape the epigenetic landscape in Arabidopsis
DNA methylation occurs in both CG and non-CG sequence contexts. Non-CG methylation is abundant in plants, and is mediated by CHROMOMETHYLASE (CMT) and DOMAINS REARRANGED METHYLTRANSFERASE (DRM) proteins; however its roles remain poorly understood. Here we characterize the roles of non-CG methylation...
ORGANISM(S): Arabidopsis thaliana 
2013-12-15 | E-GEOD-51304 | biostudies-arrayexpress
UnknownIdentification of a MAD2-binding protein, CMT2, and its role in mitosis.
Not available
S-EPMC136962 | biostudies-literature
UnknownNatural CMT2 variation is associated with genome-wide methylation changes and temperature seasonality.
Not available
S-EPMC4263395 | biostudies-literature
UnknownCommon alleles of CMT2 and NRPE1 are major determinants of CHH methylation variation in Arabidopsis thaliana.
Not available
S-EPMC6953882 | biostudies-literature
UnknownContiguous and stochastic CHH methylation patterns of plant DRM2 and CMT2 revealed by single-read methylome analysis.
Not available
S-EPMC7412668 | biostudies-literature
UnknownA novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
Not available
S-EPMC6415944 | biostudies-literature
ProteomicsClinical and molecular characteristics indicate mitochondrial dysfunction in Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
Introduction Aminoacyl tRNA-synthetases are ubiquitously expressed enzymes that attach amino acids to their cognate tRNA molecule. Mutations in several of the aminoacyl tRNA-syntheases are described to cause peripheral neuropathy, i.e. AARS1, GARS1, HARS1, YARS1 and WARS1. The Alanyl-tRNA Synthetase...
ORGANISM(S): Homo sapiens (Human) 
2022-10-14 | PXD023842 | Pride
Proteomics Cmt2 Mitochondrial dysfunction Peripheral neuropathy Aars1 
GenomicsDiverse CMT2 Neuropathies are Linked to Aberrant G3BP Interactions in Stress Granules
Diverse CMT2 Neuropathies are Linked to Aberrant G3BP Interactions in Stress Granules
PRJNA911621 | ENA
UnknownExome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
Not available
S-EPMC3796032 | biostudies-literature
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