Associated Papers
Childhood-Onset Cerebellar Ataxia from Homozygous XRCC1 c.1293G>C Variant.
Ribeiro G et al.
Movement Disorders Clinical Practice, 2026
Late-onset cerebellar ataxia associated with XRCC1: Expanding the phenotypic spectrum.
Unknown Author
Parkinsonism & Related Disorders, 2026
Impact of DNA ligase 1 and IIIα interactions with APE1 and polβ on the efficiency of base excision repair pathway at the downstream steps.
Almohdar D et al.
The Journal of Biological Chemistry, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table3.XLSX › Sheet1
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3A
The scaffold protein XRCC1 stabilizes the formation of polβ/gap DNA and ligase IIIα/nick DNA complexes in base excision repair.
Tang Q et al.
The Journal of Biological Chemistry, 2021
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging.
Tiwari V et al.
American Journal of Human Genetics, 2019
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.
O'Connor E et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Hoch NC et al.
Nature, 2017
Systematic meta-analyses and field synopsis of genetic association studies in colorectal cancer.
Theodoratou E et al.
Journal of the National Cancer Institute, 2012
Genetic susceptibility and gastric cancer risk.
González CA et al.
International Journal of Cancer, 2002
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