<i>Parp1</i> deletion rescues cerebellar hypotrophy in <i>xrcc1</i> mutant zebrafish.

ABSTRACT: Defects in DNA single-strand break repair are associated with neurodevelopmental and neurodegenerative disorders. One such disorder is that resulting from mutations in XRCC1, a scaffold protein that plays a central role in DNA single-strand base repair. XRCC1 is recruited at sites of single-strand breaks by PARP1, a protein that detects and is activated by such breaks and is negatively regulated by XRCC1 to prevent excessive PARP binding and activity. Loss of XRCC1 leads to the toxic accumulation and activity of PARP1 at single-strand breaks leading to base excision repair defects, a mechanism that may underlie pathological changes in patients carrying deleterious XRCC1 mutations. Here, we demonstrate that xrcc1 knockdown impairs development of the cerebellar plate in

SUBMITTER: Semenova SA 

PROVIDER: S-EPMC11722395 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature