This paper combines two global monogenic Parkinson's disease initiatives to create a comprehensive cohort and infrastructure for studying multi-ancestry genetic factors and disease expression.

Movement Disorders · Jul 30, 2024Peer-reviewedGenetic & Genomic Medicine

A potential patient stratification biomarker for Parkinson's disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells

Yahaira Naaldijk, Belén Fernández, Rachel Fasiczka, Elena Fdez, Coline Leghay, Ioana M. Croitoru, John B. Kwok, Yanisse Boulesnane, Amélie Vizeneux, Eugénie Mutez, Camille Calvez, A. Destée, Jean‐Marc Taymans, Ana Vinagre‐Aragón, Alberto Bergareche‐Yarza, , Sabine Hilfiker

Peripheral blood-derived cells can be employed to stratify Parkinson's disease patients most likely to respond to LRRK2-related therapeutics.

bioRxiv · Apr 11, 2023 · PreprintNeuroscience

Impact of 100 LRRK2 variants linked to Parkinsons Disease on kinase activity and microtubule binding

Alexia F. Kalogeropulou, Elena Purlyte, Francesca Tonelli, Sven M. Lange, Melanie Wightman, Alan R. Prescott, Shalini Padmanabhan, Esther M. Sammler, Dario R. Alessi

This study evaluates 100 LRRK2 variants linked to Parkinson's disease, identifying those that enhance kinase activity and microtubule binding, and highlights their implications for clinical trials.

Biochemical Journal · Aug 11, 2022Peer-reviewedNeuroscience

Proteome Profiling of Cerebrospinal Fluid Reveals Novel Biomarker Candidates for Parkinson's Disease

Özge Karayel, Sebastian Virreira Winter, Shalini Padmanabhan, Yuliya I. Kuras, Duc Tung Vu, Idil Tuncali, Kalpana Merchant, Anne-Marie A. Wills, Clemens R. Scherzer, Matthias Mann

The paper uses proteomics and machine learning to identify potential biomarkers in cerebrospinal fluid for Parkinson's disease, showing altered protein levels and neuroinflammation signatures.

Cell Reports Medicine · Jun 1, 2022Peer-reviewedSystems Biology

A mitochondrial blood-based patient stratification candidate biomarker for Parkinson's disease

Rui Qi, Esther M. Sammler, Claudia P. González-Hunt, Nicholas Pena, Jeremy P. Rouanet, Steven D. Goodson, Marie Fuzatti, Fabio Blandini, Kirk I. Erickson, Andrea M. Weinstein, Shalini Padmanabhan, Fox BioNet (FBN) investigators, Francesca Tonelli, Dario R. Alessi, Sruti Shiva, Laurie H. Sanders

The paper identifies mtDNA damage as a blood-based biomarker for Parkinson's disease, showing increased levels in early-stage patients and mutation carriers, suggesting its potential for patient stratification in clinical trials.

bioRxiv · Feb 7, 2022 · PreprintNeuroscience

Urinary proteome profiling for stratifying patients with familial Parkinsons disease

Sebastian Virreira Winter, Özge Karayel, Maximilian T. Strauss, Shalini Padmanabhan, Matthew Surface, Kalpana Merchant, Roy N. Alcalay, Matthias Mann

This study uses urinary proteomics and machine learning to identify biomarkers for stratifying Parkinson's disease patients and LRRK2 mutation carriers.

EMBO Molecular Medicine · Jan 22, 2021Peer-reviewedSystems Biology

An assessment of LRRK2 serine 935 phosphorylation in human peripheral blood mononuclear cells in idiopathic Parkinson’s disease and G2019S LRRK2 cohorts

Shalini Padmanabhan, Thomas A. Lanz, Donal N. Gorman, Michele Wolfe, Alison P. Joyce, Carlos Cabrera, Rosemary F. Lawrence-Henderson, Najah Levers, Neal Joshi, Thong Chi Ma, Christopher Liong, Sushma Narayan, Roy N. Alcalay, Samantha J. Hutten, Marco A. S. Baptista, Kalpana Merchant

The paper assesses pS935 LRRK2 levels in PBMCs of iPD and G2019S LRRK2 carriers, finding reduced levels in G2019S carriers with PD compared to those without PD or iPD.

Journal of Parkinson s Disease · Jan 28, 2020Peer-reviewedNeuroscience