Article

A pathogenic variant in RAB32 causes autosomal dominant Parkinson’s disease and<i>activates LRRK2 kinase</i>

2024-01-18

Abstract excerpt

<h4>Summary</h4> <h4>Background</h4> Parkinson’s disease (PD) is a progressive neurodegenerative disorder. Mendelian forms have revealed multiple genes, with a notable emphasis on membrane trafficking; RAB GTPases play an important role in PD as a subset are both regulators and substrates of LRRK2 protein kinase. To explore the role of RAB GTPases in PD, we undertook a comprehensive examination of their genetic va...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 42b88f55-330c-55a8-9078-e527687acf38
DOI: 10.1101/2024.01.17.24300927

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A pathogenic variant in RAB32 causes autosomal dominant Parkinson’s disease and<i>activates LRRK2 kinase</i>DOI 10.1101/2024.01.17.24300927Read

Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.Semantic proximity Read

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.Semantic proximity Read

<i>RAB32</i>-linked Parkinson’s disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteriaSemantic proximity Read

MDSGene update and expansion: Clinical and genetic spectrum of<i>LRRK2</i>variants in Parkinson’s diseaseSemantic proximity Read

Parkinson’s disease-associated LRRK2 risk variant, G2385R, enhances Rab substrate phosphorylation and impairs neuronal integritySemantic proximity Read

Rab8a dysregulation in Parkinson's disease: A convergence of genetic and molecular pathologies.Semantic proximity Read

Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s diseaseSemantic proximity Read

LRRK2 in Parkinson's disease: genetic and clinical studies from patients.Semantic proximity Read

LRRK2: cause, risk, and mechanism.Semantic proximity Read

The VPS35 p.A320V variant segregates with Parkinson's disease in a pesticide-exposed familySemantic proximity Read

LRRK2: Genetic mechanisms vs genetic subtypes.Semantic proximity Read

Large-scale functional annotation establishes a reference framework for human <i>LRRK2</i> variantsSemantic proximity Read