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UnknownCortical interneuron development is affected in 4H leukodystrophy.
Not available
S-EPMC10316783 | biostudies-literature
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 
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 
UnknownEndocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Not available
S-EPMC7823228 | biostudies-literature
UnknownThe First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations.
Not available
S-EPMC9007423 | biostudies-literature
UnknownCase report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
Not available
S-EPMC9410618 | biostudies-literature
UnknownRecessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.
Not available
S-EPMC5487884 | biostudies-literature
UnknownClinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Not available
S-EPMC4248461 | biostudies-literature
UnknownLarge exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
Not available
S-EPMC4520020 | biostudies-literature
UnknownPOLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
Not available
S-EPMC7894263 | biostudies-literature
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