POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches
نویسندگان
چکیده
منابع مشابه
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy
POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients, no mutation in either gene or only one mutation is found. Analysis of the POLR3B cDNA revealed a large deletion of exons 21-22 in one case and of exons 26-27 in another case. These a...
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متن کاملRecessive 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 mutations in POLR1C, a gene encoding a shared POLR1 and POLR3 subunit, also mutated in some Treacher Co...
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ژورنال
عنوان ژورنال: Frontiers in Cellular Neuroscience
سال: 2021
ISSN: 1662-5102
DOI: 10.3389/fncel.2020.631802