Ontology highlight
ABSTRACT:
INSTRUMENT(S):
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Cell Culture
SUBMITTER: Anna Baud
LAB HEAD: Krzysztof Sobczak
PROVIDER: PXD047397 | Pride | 2025-05-26
REPOSITORIES: Pride
Items per page: 1 - 5 of 10 |
eLife 20250516
Expansion of CGG repeats (CGGexp) in the 5' untranslated region (5'UTR) of the <i>FMR1</i> gene underlies the fragile X premutation-associated conditions including tremor/ataxia syndrome, a late-onset neurodegenerative disease and fragile X-associated primary ovarian insufficiency. One common pathomechanism of these conditions is the repeat-associated non-AUG-initiated (RAN) translation of CGG repeats of mutant <i>FMR1</i> mRNA, resulting in production of FMRpolyG, a toxic protein containing lon ...[more]