This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

npj Parkinson's Disease · Apr 20, 2026Peer-reviewedGenetic & Genomic Medicine

Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment

Marzieh Khani, Sheila Yeboah, Catalina Cerquera‐Cleves, Alexandra Kedmi, Bernabé I. Bustos, Spencer M. Grant, Suleyman Can Akerman, Fulya Akçimen, Paul Suhwan Lee, Paula Reyes‐Pérez, Lara Mariah Lange, Hampton L. Leonard, Mathew J. Koretsky, Mary B. Makarious, Zachary Schneider, , Sara Bandrés‐Ciga

This study investigates the role of SORL1 genetic variants in AD, RD, and PD across diverse populations, identifying variants associated with risk but no significant cumulative effect.

medRxiv · Feb 2, 2026 · PreprintGenetic & Genomic Medicine

Octopamine metabolically reprograms astrocytes to confer neuroprotection against α-synuclein

Andrew K. Shum, Sofia Zaichick, Gregory Scott McElroy, Karis B. D’Alessandro, Milad J. Alasady, Michaela M. Novakovic, Wesley Peng, Ekaterina A. Grebenik, Daayun Chung, Margaret E. Flanagan, Roger S. Smith, Alejandro Morales, Laetitia Stumpf, Kaitlyn M. McGrath, Dimitri Krainc, , Gabriela Caraveo

This study shows octopamine reprograms astrocytes to protect neurons from α-synuclein toxicity through metabolic pathways.

Proceedings of the National Academy of Sciences · Apr 17, 2023Peer-reviewedNeuroscience

Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk

Bernabé I. Bustos, Kimberley J. Billingsley, Cornelis Blauwendraat, Jesse Raphael Gibbs, Ziv Gan‐Or, Dimitri Krainc, Andrew Singleton, Steven J Lubbe

This study identifies 34 genome-wide significant short-tandem repeat (STR) loci associated with Parkinson's disease risk and shows their functional impact on gene expression and disease pathways.

Brain · Aug 24, 2022Peer-reviewedGenetic & Genomic Medicine

Genome-wide epistasis analysis in Parkinson's disease between populations with different genetic ancestry reveals significant variant-variant interactions

Alejandro Cisterna‐García, Bernabé I. Bustos, Sara Bandrés‐Ciga, Thiago Peixoto Leal, Elif Irem Sarihan, Christie Jok, Cornelis Blauwendraat, Mike A. Nalls, Dimitri Krainc, Andrew Singleton, Ignacio Fernandez Mata, Steven J Lubbe, Juan Antonio Botía

The paper identifies and replicates epistatic variant-variant interactions in Parkinson's disease across genetically diverse populations using a new pipeline called VARI3.

medRxiv · Jul 29, 2022 · PreprintGenetic & Genomic Medicine

Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

Niccolò Emanuele Mencacci, Marisa M. Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Paulina González-Latapí, Christopher Patzke, Michael Schwake, Arianna Tucci, Alan Michael Pittman, Javier Simón‐Sánchez, Gemma L. Carvill, Bettina Balint, Sarah Wiethoff, Thomas T. Warner, , Claudio Acuna

The paper identifies bi-allelic variants in TSPOAP1 as a cause of autosomal recessive dystonia, showing different clinical presentations based on variant type.

Journal of Clinical Investigation · Feb 4, 2021Peer-reviewedGenetics

ASSESSING THE RELATIONSHIP BETWEEN MONOALLELIC PARK2 MUTATIONS AND PARKINSONS RISK

Steven J Lubbe, Bernabé I. Bustos, Jing S. Hu, Dimitri Krainc, Theresita Joseph, Jason Hehir, Manuela M. X. Tan, Weijia Zhang, Valentina Escott‐Price, Nigel M. Williams, Cornelis Blauwendraat, Andrew Singleton, Huw R. Morris

This study investigates the risk of Parkinson's disease associated with monoallelic PARK2 mutations, finding increased risk but highlighting confounding factors from biallelic mutations.

Human Molecular Genetics · Jan 1, 2021Peer-reviewedGenetic & Genomic Medicine

Replication assessment of NUS1 variants in Parkinson's Disease

Bernabé I. Bustos, Sara Bandrés‐Ciga, Jesse Raphael Gibbs, Dimitri Krainc, Niccolò Emanuele Mencacci, Ziv Gan‐Or, Steven J Lubbe

The paper assesses the association of NUS1 variants with Parkinson's Disease in European descent cohorts and finds no evidence of a link, suggesting previous findings may be due to population-specific variants.

Neurobiology of Aging · Nov 13, 2020Peer-reviewedGenetic & Genomic Medicine

Whole-exome analysis in Parkinson's disease reveals a high burden of ultra-rare variants in early-onset cases

Bernabé I. Bustos, Dimitri Krainc, Steven J Lubbe

The paper analyzes whole-exome data from Parkinson's disease cases and controls to show a higher burden of ultra-rare variants in early-onset cases compared to late-onset cases.

bioRxiv · Jun 6, 2020 · PreprintGenetics