Associated Papers
UQCRC1 deficiency impairs mitophagy via PINK1-dependent mechanisms in Parkinson's disease.
Li JL et al.
Npj Parkinson's Disease, 2026
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Protein-truncating variants in UQCRC1 are associated with Parkinson's disease: evidence from half-million people.
Jing X et al.
Npj Parkinson's Disease, 2025
A rare variant in the UQCRC1 gene, p.(Gly405Val) in three Austrian Parkinson's patients.
Brücke C et al.
Parkinsonism & Related Disorders, 2025
Formoterol Acting via β2-Adrenoreceptor Restores Mitochondrial Dysfunction Caused by Parkinson's Disease-Related UQCRC1 Mutation and Improves Mitochondrial Homeostasis Including Dynamic and Transport.
Chang JC et al.
Biology, 2024
Rare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson's disease.
Wang S et al.
Neurobiology of Aging, 2024
Recent advances in novel mutation genes of Parkinson's disease.
Yang J et al.
Journal of Neurology, 2023
Genetic Movement Disorders Commonly Seen in Asians.
Jagota P et al.
Movement Disorders Clinical Practice, 2023
Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.
Jia F et al.
Genes, 2022
Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.
Pillay NS et al.
Frontiers in Genetics, 2022
UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort.
Liao TW et al.
Frontiers in Neurology, 2022
UQCRC1 variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Zhao YW et al.
Brain : a Journal of Neurology, 2021
Reply: UQCRC1 variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Lin CH et al.
Brain : a Journal of Neurology, 2021
Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans.
Senkevich K et al.
Neurobiology of Aging, 2021
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
Lin CH et al.
Brain : a Journal of Neurology, 2020
Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-057-05) from a patient with familial parkinsonism and polyneuropathy having a heterozygous p.Y314S mutation in UQCRC1 gene.
Ou-Yang CH et al.
Stem Cell Research, 2020
A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.
Lin CH et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019