Consequences of Rab GTPase dysfunction in genetic or acquired human diseases
MJ Banworth, G Li - Small GTPases, 2018 - Taylor & Francis
Rab GTPases are important regulators of intracellular membrane trafficking in eukaryotes.
Both activating and inactivating mutations in Rab genes have been identified and implicated …
Both activating and inactivating mutations in Rab genes have been identified and implicated …
[HTML][HTML] Rab GTPases as physiological substrates of LRRK2 kinase
W Seol, D Nam, I Son - Experimental neurobiology, 2019 - ncbi.nlm.nih.gov
Abstract LRRK2 (Leucine-Rich Repeat Kinase 2) is a gene whose specific mutations cause
Parkinson's disease (PD), the most common neurodegenerative movement disorder. LRRK2 …
Parkinson's disease (PD), the most common neurodegenerative movement disorder. LRRK2 …
Distinct roles for RAB10 and RAB29 in pathogenic LRRK2-mediated endolysosomal trafficking alterations
Pathogenic LRRK2 expression causes endolysosomal trafficking alterations by impairing
RAB10 function, and these alterations are rescued by RAB29 independent of its Golgi …
RAB10 function, and these alterations are rescued by RAB29 independent of its Golgi …
Physiological and pathological functions of LRRK2: implications from substrate proteins
Leucine-rich repeat kinase 2 (LRRK2) encodes a 2527-amino acid (aa) protein composed of
multiple functional domains, including a Ras of complex proteins (ROC)-type GTP-binding …
multiple functional domains, including a Ras of complex proteins (ROC)-type GTP-binding …
The atypical Rab GTPase associated with Parkinson's disease, Rab29, is localized to membranes
Y Nagai-Ito, L Xu, K Ito, Y Kajihara, G Ito… - Journal of Biological …, 2022 - ASBMB
Several genetic studies have shown that the small GTPase Rab29 is involved in the
pathogenesis of Parkinson's Disease (PD). It has also been shown that overexpression of …
pathogenesis of Parkinson's Disease (PD). It has also been shown that overexpression of …
A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome
We investigated the genome of a 5-year-old male who presented with global developmental
delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia …
delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia …
Methylation quantitative trait locus analysis of chronic postsurgical pain uncovers epigenetic mediators of genetic risk
Background: Overlap of pathways enriched by single nucleotide polymorphisms and DNA-
methylation underlying chronic postsurgical pain (CPSP), prompted pilot study of CPSP …
methylation underlying chronic postsurgical pain (CPSP), prompted pilot study of CPSP …
RAB7L1 participates in secondary brain injury induced by experimental intracerebral hemorrhage in rats
X Tan, Y Wei, J Cao, D Wu, N Lai, R Deng, H Li… - Journal of Molecular …, 2021 - Springer
RAB7, a member of RAS oncogene family–like 1 (RAB7L1), is a GTPase belonging to the
Rab family and acts as an upstream regulator to regulate the kinase activity of leucine-rich …
Rab family and acts as an upstream regulator to regulate the kinase activity of leucine-rich …
Association of BST1 polymorphism with idiopathic restless legs syndrome in Chinese population
Y Huang, P Wang, Q Luo, J Ma - Sleep and Breathing, 2021 - Springer
Background Parkinson's disease (PD) and restless legs syndrome/Willis-Ekbom disease
(RLS/WED) are both common movement disorders. Based on their clinical overlap …
(RLS/WED) are both common movement disorders. Based on their clinical overlap …
Association analysis of NUCKS1 and INPP5K polymorphism with Parkinson's disease
W Zhu, X Luo, A Adnan, P Yu, S Zhang… - Genes & Genetic …, 2018 - jstage.jst.go.jp
Genome-wide association studies have reported numerous candidate loci associated with
Parkinson's disease (PD). NUCKS1 and INPP5K are two such candidate loci, although they …
Parkinson's disease (PD). NUCKS1 and INPP5K are two such candidate loci, although they …