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ProteomicsRiluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H
The mechanism of assembly of RNA polymerase III (Pol III), the 17-subunit enzyme that synthesizes tRNAs, 5S rRNA, and other small-nuclear (sn) RNAs in eukaryotes, is not clearly understood. The recent discovery of the HSP90 co-chaperone PAQosome (Particle for Arrangement of Quaternary structure) rev...
ORGANISM(S): Homo sapiens (Human) 
2023-03-10 | PXD034961 | Pride
Protein complex assembly Rna polymerase iii Mass spectrometry Paqosome Riluzole Polr3-related leukodystrophy 4h leukodystrophy Drug repurposing 
UnknownCortical interneuron development is affected in 4H leukodystrophy.
Not available
S-EPMC10316783 | biostudies-literature
ProteomicsRecessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B. Here, we report eight of these cases carrying recessive mutat...
ORGANISM(S): Homo sapiens (Human) 
2019-10-16 | PXD002154 | Pride
Leukodystrophy Human Rna polymerase iii Polr1c 
GenomicsProteosome inhibitor repurposing rescues hypomyelination in HIKESHI-associated Leukodystrophy
Proteosome inhibitor repurposing rescues hypomyelination in HIKESHI-associated Leukodystrophy
PRJNA1380631 | ENA
ProteomicsData-independent Acquisition - Parallel Reaction Monitoring (DIA-PRM) Acquisition Reveals Alteration of Lysosomal Hydrolases in a Mouse Model of Metachromatic Leukodystrophy
For the reproducible analysis of peptides by mass spectrometry-based proteomics, data-independent acquisition (DIA) and parallel/multiple reaction monitoring (PRM/MRM) deliver unrivalled performance with respect to sensitivity and reproducibility. Both approaches come, however, with distinct advanta...
ORGANISM(S): Mus musculus (Mouse) 
2025-05-07 | PXD052313 | Pride
Dia Prm Targeted Mass spectrometry Mld Lysosomes 
UnknownA Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.
Not available
S-EPMC12250047 | biostudies-literature
GenomicsAAV-mediated ARSA replacement for the treatment of Metachromatic Leukodystrophy
AAV-mediated ARSA replacement for the treatment of Metachromatic Leukodystrophy
PRJNA1273005 | ENA
UnknownRiluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.
Not available
S-EPMC9710144 | biostudies-literature
UnknownA homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Not available
S-EPMC10393412 | biostudies-literature
UnknownNeurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.
Not available
S-EPMC8967093 | biostudies-literature
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