Rab family of small GTPases: an updated view on their regulation and functions

Y Homma, S Hiragi, M Fukuda - The FEBS journal, 2021 - Wiley Online Library
The Rab family of small GTPases regulates intracellular membrane trafficking by
orchestrating the biogenesis, transport, tethering, and fusion of membrane‐bound …

Parkinson's disease

LV Kalia, AE Lang - The Lancet, 2015 - thelancet.com
Parkinson's disease is a neurological disorder with evolving layers of complexity. It has long
been characterised by the classical motor features of parkinsonism associated with Lewy …

An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank

SM Smith, G Douaud, W Chen, T Hanayik… - Nature …, 2021 - nature.com
UK Biobank is a major prospective epidemiological study, including multimodal brain
imaging, genetics and ongoing health outcomes. Previously, we published genome-wide …

[HTML][HTML] Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases

M Steger, F Tonelli, G Ito, P Davies, M Trost, M Vetter… - elife, 2016 - elifesciences.org
Mutations in Park8, encoding for the multidomain Leucine-rich repeat kinase 2 (LRRK2)
protein, comprise the predominant genetic cause of Parkinson's disease (PD). G2019S, the …

[HTML][HTML] Monogenic Parkinson's disease: genotype, phenotype, pathophysiology, and genetic testing

F Jia, A Fellner, KR Kumar - Genes, 2022 - mdpi.com
Genes | Free Full-Text | Monogenic Parkinson’s Disease: Genotype, Phenotype,
Pathophysiology, and Genetic Testing Next Article in Journal enChIP-Seq Analyzer: A …

[HTML][HTML] Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis

M Steger, F Diez, HS Dhekne, P Lis, RS Nirujogi… - elife, 2017 - elifesciences.org
We previously reported that Parkinson's disease (PD) kinase LRRK2 phosphorylates a
subset of Rab GTPases on a conserved residue in their switch-II domains (Steger et al …

Defects in trafficking bridge Parkinson's disease pathology and genetics

A Abeliovich, AD Gitler - Nature, 2016 - nature.com
Parkinson's disease is a debilitating, age-associated movement disorder. A central aspect of
the pathophysiology of Parkinson's disease is the progressive demise of midbrain dopamine …

Genetics of Parkinson's disease

CM Lill - Molecular and cellular probes, 2016 - Elsevier
Almost two decades after the identification of SNCA as the first causative gene in
Parkinson's disease (PD) and the subsequent understanding that genetic factors play a …

Loss of C9 ORF 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

C Sellier, ML Campanari, C Julie Corbier… - The EMBO …, 2016 - embopress.org
An intronic expansion of GGGGCC repeats within the C9 ORF 72 gene is the most common
genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (ALS‐FTD) …

Neuropathology of genetic synucleinopathies with parkinsonism: review of the literature

SA Schneider, RN Alcalay - Movement Disorders, 2017 - Wiley Online Library
Clinical–pathological studies remain the gold‐standard for the diagnosis of Parkinson's
disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis …