ArticleNature genetics2024
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.
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Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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43citing papers in PubMed
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Who cites it
43 citing papers in PubMed.
- Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.European journal of human genetics : EJHG · 2026Article
- Species-dependent activities of the PINK1-parkin axis.Translational neurodegeneration · 2026Review
- The Global Parkinson's Disease Genetics (GP2) Genome Browser.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- VPS35 mutation inhibits PINK1/parkin-mediated mitophagy via increased LRRK2 kinase activity.Brain : a journal of neurology · 2026Article
- Knockout of the LRRK2-counteracting RAB phosphatase PPM1H disrupts axonal autophagy and exacerbates alpha-synuclein aggregation.Cell reports · 2026Article
- Elucidating the molecular interplay between LRRK2 and Rab GTPases.bioRxiv : the preprint server for biology · 2026Article
- Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.Nature genetics · 2026Article
- Population-scale burden analysis of rare damaging coding variants identifies novel risk genes for Alzheimer's disease and Parkinson's disease.medRxiv : the preprint server for health sciences · 2026Article
- Mammalian evolution and human mutation burden in Rab GTPases.Biochemistry and biophysics reports · 2026Article
- USP25 inhibition ameliorates Parkinson's disease by restoring mitophagy.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- The Global Parkinson's Disease Genetics (GP2) Genome Browser.medRxiv : the preprint server for health sciences · 2025Article
- Parkinson's disease-associated alterations in DNA methylation and hydroxymethylation in human brain.NPJ Parkinson's disease · 2025Article
- RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- LRRK2 integrates Rab and GABARAP interactions to sense and respond to distinct lysosomal stresses.bioRxiv : the preprint server for biology · 2025Article
- SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants.Cell reports methods · 2025Article
- Soma-localized Rab39 inhibits synaptic autophagy by controlling trafficking of Atg9 vesicles.The EMBO journal · 2025Article
- Neural stem cells of the subventricular zone: A potential stem cell pool for brain repair in Parkinson's disease.Stem cell reports · 2025Review
- Genetics and Phenotypes of Late-Onset Neurodegeneration in Neurodevelopmental Disorders.Cureus · 2025Review
- PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's disease.Cell reports · 2025Article
- LRRK2 kinase activity regulates Parkinson's disease-relevant lipids at the lysosome.Molecular neurodegeneration · 2025Article
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Authors and funding
23 authors.
Paul J Hop *Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0002-9007-7436
Dongbing Lai *Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID http://orcid.org/0000-0001-7803-580X
Pamela J KeagleDepartment of Neurology, UMass Chan Medical School, Worcester, MA, USA.
Desiree M BaronDepartment of Neurology, UMass Chan Medical School, Worcester, MA, USA.
Brendan J KennaDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands.
Maarten KooymanDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0002-9023-5617
ShankaracharyaDepartment of Neurology, UMass Chan Medical School, Worcester, MA, USA.
Cheryl HalterDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Letizia StranieroDepartment of Biomedical Sciences, Humanitas University, Milan, Italy.
Rosanna AsseltaDepartment of Biomedical Sciences, Humanitas University, Milan, Italy.ORCID http://orcid.org/0000-0001-5351-0619
Salvatore BonvegnaParkinson Institute, ASST Gaetano Pini-CTO, Milan, Italy.
Alexandra I Soto-BeasleyDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Project MinE ALS Sequencing Consortium
Zbigniew K WszolekDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0001-5487-1053
Ryan J UittiDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Ioannis Ugo IsaiasParkinson Institute, ASST Gaetano Pini-CTO, Milan, Italy.
Gianni PezzoliParkinson Institute, ASST Gaetano Pini-CTO, Milan, Italy.
Nicola TicozziDepartment of Neurology-Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.ORCID http://orcid.org/0000-0001-5963-7426
Owen A RossDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0003-4813-756X
Jan H VeldinkDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0001-5572-9657
Tatiana M ForoudDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID http://orcid.org/0000-0002-5549-2212
Kevin P KennaDepartment of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID http://orcid.org/0009-0001-2712-7218
John E LandersDepartment of Neurology, UMass Chan Medical School, Worcester, MA, USA. john.landers@umassmed.edu.ORCID http://orcid.org/0000-0001-8084-5043
Funding
Technology and Remote Assessment CoreU19AG063911 · NIA · MAYO CLINIC ROCHESTER · PI ADAM L. BOXER, Bradley F Boeve · 2019 to 2026
$120.9MUtilization of proteomics and lipidomics to identify modifiers of LBDU54NS110435 · NINDS · MAYO CLINIC JACKSONVILLE · PI MCLEAN, PAMELA J · 2019 to 2023
$14.5MPARKINSON DISEASE COLLABORATIVE STUDY OF GENETIC LINKAGER01NS037167 · NINDS · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI FOROUD, TATIANA M. · 1998 to 2010
$11.7MNeuropathology CoreP50NS072187 · NINDS · MAYO CLINIC JACKSONVILLE · PI DICKSON, DENNIS WILLIAM · 2010 to 2017
$8.7MProject 2: Identifying genes and Pathways that impact Tau Toxicity in FTDU54NS100693 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2016 to 2020
$6.2MAnalysis and characterization of a cohort of familial Parkinson's disease exomesR01NS096740 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI FOROUD, TATIANA M., LANDERS, JOHN E · 2016 to 2019
$2.7MUnderstanding the role of MAPT in Parkinsonian disordersR01NS078086 · NINDS · MAYO CLINIC JACKSONVILLE · PI ROSS, OWEN A · 2012 to 2016
$1.7MComprehensive Harmonization and Analysis of Case/Control Whole Genome Sequencing Data from the ALS/FTD Compute ProjectR61NS130604 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2023 to 2023
$1.6MGenomic Analysis of Parkinson's DiseaseR56NS082349 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI FOROUD, TATIANA M., LANDERS, JOHN E · 2014 to 2014
$497kNIA NIH HHS U19 AG063911NINDS NIH HHS P50 NS072187NINDS NIH HHS R01 NS037167NINDS NIH HHS R01 NS078086NINDS NIH HHS R01 NS096740NINDS NIH HHS R56 NS082349NINDS NIH HHS R61 NS130604NINDS NIH HHS U54 NS100693NINDS NIH HHS U54 NS110435
Abstract
Despite substantial progress, causal variants are identified only for a minority of familial Parkinson's disease (PD) cases, leaving high-risk pathogenic variants unidentified
Indexed as
Genetic Predisposition to DiseaseLeucine-Rich Repeat Serine-Threonine Protein Kinase-2Parkinson Diseaserab GTP-Binding ProteinsAgedCase-Control StudiesExomeExome SequencingFemaleHumansMaleMiddle AgedMutationPedigreeLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanRab32 protein, humanrab GTP-Binding Proteins
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.