Genetics and pathogenesis of Parkinson's syndrome
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous,
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …
Rab family of small GTPases: an updated view on their regulation and functions
The Rab family of small GTPases regulates intracellular membrane trafficking by
orchestrating the biogenesis, transport, tethering, and fusion of membrane‐bound …
orchestrating the biogenesis, transport, tethering, and fusion of membrane‐bound …
Genetics of Parkinson's disease: an introspection of its journey towards precision medicine
S Bandres-Ciga, M Diez-Fairen, JJ Kim… - Neurobiology of …, 2020 - Elsevier
ABSTRACT A substantial proportion of risk for Parkinson's disease (PD) is driven by
genetics. Progress in understanding the genetic basis of PD has been significant. So far …
genetics. Progress in understanding the genetic basis of PD has been significant. So far …
Perspective on the current state of the LRRK2 field
JM Taymans, M Fell, T Greenamyre, WD Hirst… - npj Parkinson's …, 2023 - nature.com
Almost 2 decades after linking LRRK2 to Parkinson's disease, a vibrant research field has
developed around the study of this gene and its protein product. Recent studies have begun …
developed around the study of this gene and its protein product. Recent studies have begun …
LRRK2 and idiopathic Parkinson's disease
The etiology of idiopathic Parkinson's disease (iPD) is multifactorial, and both genetics and
environmental exposures are risk factors. While mutations in leucine-rich repeat kinase-2 …
environmental exposures are risk factors. While mutations in leucine-rich repeat kinase-2 …
Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis
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 …
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 …
the pathophysiology of Parkinson's disease is the progressive demise of midbrain dopamine …
[HTML][HTML] Increased LRRK2 kinase activity alters neuronal autophagy by disrupting the axonal transport of autophagosomes
CA Boecker, J Goldsmith, D Dou, GG Cajka… - Current Biology, 2021 - cell.com
Parkinson's disease-causing mutations in the leucine-rich repeat kinase 2 (LRRK2) gene
hyperactivate LRRK2 kinase activity and cause increased phosphorylation of Rab GTPases …
hyperactivate LRRK2 kinase activity and cause increased phosphorylation of Rab GTPases …
Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance
DG Hernandez, X Reed… - Journal of …, 2016 - Wiley Online Library
Parkinson's disease is a common, progressive neurodegenerative disorder, affecting 3% of
those older than 75 years of age. Clinically, Parkinson's disease (PD) is associated with …
those older than 75 years of age. Clinically, Parkinson's disease (PD) is associated with …
Synaptic, mitochondrial, and lysosomal dysfunction in Parkinson's disease
The discovery of genetic forms of Parkinson's disease (PD) has highlighted the importance
of the autophagy/lysosomal and mitochondrial/oxidative stress pathways in disease …
of the autophagy/lysosomal and mitochondrial/oxidative stress pathways in disease …