The paper examines how genetic variants in GALC affect the ratio of glucocerebrosidase to galactosylceramidase activity and its association with Parkinson's disease risk.

medRxiv · Oct 7, 2026 · PreprintGenetic & Genomic Medicine

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis

Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves A Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, , Ziv Gan‐Or

This study finds the GBA1 p.E427K variant increases risk for synucleinopathies through a meta-analysis of case-control studies.

Movement Disorders · May 22, 2026Peer-reviewedGenetic & Genomic Medicine

Genome-wide association study of glucocerebrosidase activity modifiers.

Emma N. Somerville, Lynne Krohn, Konstantin A. Senkevich, Eric Yu, Jamil Ahmad, Farnaz Asayesh, Jennifer A. Ruskey, Dan Spiegelman, Stanley Fahn, Cheryl Waters, S. Pablo Sardi, Roy N. Alcalay, Ziv Gan‐Or

This study identifies genetic variants associated with glucocerebrosidase activity using GWAS in two cohorts, finding GBA1 variants and a novel association in the GAA locus.

Molecular Neurobiology · Apr 29, 2025Peer-reviewedGenetics

Lack of association between G6PD variants and Parkinson's disease

Leah V. Chifamba, Sitki Cem Parlar, Lang Liu, Leonard L. Sokol, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Jennifer A. Ruskey, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves A Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, , Konstantin A. Senkevich

This study investigates the association between G6PD variants and Parkinson's disease across six cohorts and finds no significant links for common or rare variants.

medRxiv · Apr 23, 2025 · PreprintGenetic & Genomic Medicine

The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons

Jace Jones-Tabah, Kathy He, Nathan C. Karpilovsky, Konstantin A. Senkevich, Ghislaine Deyab, Isabella Pietrantonio, Thomas Goiran, Yuting Cousineau, Daria Nikanorova, Taylor Goldsmith, Esther del Cid‐Pellitero, Carol X.‐Q. Chen, Wen Luo, Zhipeng You, Narges Abdian, , Edward A. Fon

This study investigates the role of cathepsin B in Parkinson's disease by analyzing genetic variants and manipulating catB function in cell models to assess its impact on lysosomal activity and alpha-synuclein clearance.

Molecular Neurodegeneration · Nov 24, 2024Peer-reviewedNeuroscience

Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?

Konstantin A. Senkevich, Sitki Cem Parlar, Cloe Chantereault, Eric Yu, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves A Dauvilliers, Nicolas Dupré, Irina V. Miliukhina, Alla Timofeeva, Anton Emelyanov, , Ziv Gan‐Or

This study investigates the association between rare SYNJ1 variants and Parkinson's disease, finding an association with both sporadic and early-onset cases.

npj Parkinson s Disease · Oct 25, 2024Peer-reviewedGenetic & Genomic Medicine

Association of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's Disease

Prabhjyot Saini, Uladzislau Rudakou, Eric Yu, Jennifer A. Ruskey, Farnaz Asayesh, Sandra B. Laurent, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves A Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Alberto Javier Espay, , Ziv Gan‐Or

This study sequenced five genes in PD patients and controls, finding no significant association with Parkinson's Disease after multiple comparisons.

Neurobiology of Aging · Oct 31, 2020Peer-reviewedGenetic & Genomic Medicine

Analysis of heterozygous PRKN variants and copy number variations in Parkinson's disease

Eric Yu, Uladzislau Rudakou, Lynne Krohn, Kheireddin Mufti, Jennifer A. Ruskey, Farnaz Asayesh, Mehrdad A. Estiar, Dan Spiegelman, Matthew Surface, Stanley Fahn, Cheryl Waters, Lior Greenbaum, Alberto Javier Espay, Yves A Dauvilliers, Nicolas Dupré, , Ziv Gan‐Or

This study examines the association between heterozygous PRKN variants and Parkinson's disease risk and onset, finding no significant associations.

Movement Disorders · Sep 24, 2020Peer-reviewedGenetic & Genomic Medicine

Analysis of common and rare VPS13C variants in late onset Parkinson disease

Uladzislau Rudakou, Jennifer A. Ruskey, Lynne Krohn, Sandra B. Laurent, Dan Spiegelman, Lior Greenbaum, Gilad Yahalom, Alex Désautels, Jacques Yves Montplaisir, Stanley Fahn, Cheryl Waters, Oren Levy, Caitlin M. Kehoe, Sushma Narayan, Yves A Dauvilliers, , Ziv Gan‐Or

The paper investigates the role of VPS13C variants in late-onset Parkinson disease, finding no significant association with rare variants but a nominal association with a haplotype.

Neurology Genetics · Jan 9, 2020Peer-reviewedGenetics