Evaluation of Rare MCOLN1 Variants in a Large Cohort of α‐Synucleinopathies
Note: Genomic position was based on GRCh37.Variants were classified according to the 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) joint consensus guidelines, with P indicating that the variant is pathogenic.Function predictions denote whether the variant is a protein-truncating variant or a missense variant, which is predicted as pathogenic or damaging by at least 5 of 10 in silico prediction tools, with D indicating that the variant is damaging.
Authors
- Qirui Jiang (ORCID: https://orcid.org/0000-0002-8841-7569)
- Yiyuan Cui
- Dejiang Pang (ORCID: https://orcid.org/0000-0002-6076-610X)
- Jing Yang (ORCID: https://orcid.org/0000-0001-7512-6183)
- Shichan Wang (ORCID: https://orcid.org/0000-0001-5266-8748)
- Jiyong Liu (ORCID: https://orcid.org/0009-0007-7707-8315)
- Junyu Lin (ORCID: https://orcid.org/0000-0001-5956-8301)
- Huifang Shang (ORCID: https://orcid.org/0000-0003-0947-1151)
- Chunyu Li (ORCID: https://orcid.org/0000-0002-3930-332X)
- Xueping Chen (ORCID: https://orcid.org/0000-0003-4290-7404)
- Qianqian Wei (ORCID: https://orcid.org/0000-0002-7825-5498)
- Ruwei Ou (ORCID: https://orcid.org/0000-0002-9971-6185)
- Yi Xiao (ORCID: https://orcid.org/0000-0002-4839-7866)
- Xiaokai Zhou
- Yushan Tan
- Wei Song
- Bi Zhao
- Yuan Gao
Institutions
- Sichuan University (CN)
- West China Hospital of Sichuan University (CN)
Publication Details
- Journal
- Movement Disorders
- Published
- 2026-10-14
- DOI
- https://doi.org/10.1002/mds.70568
- Citations
- 1
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 4.10
Funders
- National Natural Science Foundation of China