Results 11 to 20 of about 28,054 (245)
Computational analysis of the LRRK2 interactome. [PDF]
LRRK2 was identified in 2004 as the causative protein product of the Parkinson's disease locus designated PARK8. In the decade since then, genetic studies have revealed at least 6 dominant mutations in LRRK2 linked to Parkinson's disease, alongside one ...
Denny, P +3 more
core +10 more sources
LRRK2 interactions with microtubules are independent of LRRK2-mediated Rab phosphorylation
Deregulated microtubules are common defects associated with neurodegenerative diseases. Recent cryo-electron microscopy studies in cell lines overexpressing Parkinson’s disease-associated LRRK2 suggest microtubule surfaces may regulate kinase activity by
Tuyana Malankhanova +7 more
doaj +3 more sources
The LRRK2 signalling system [PDF]
The LRRK2 gene is a major contributor to genetic risk for Parkinson's disease and understanding the biology of the leucine-rich repeat kinase 2 (LRRK2, the protein product of this gene) is an important goal in Parkinson's research. LRRK2 is a multi-domain, multi-activity enzyme and has been implicated in a wide range of signalling events within the ...
Price, Alice +3 more
openaire +2 more sources
LRRK2 and Parkinson Disease [PDF]
To review the molecular genetics and functional biology of leucine-rich repeat kinase 2 (LRRK2) in parkinsonism and to summarize the opportunities and challenges to develop interventions for Parkinson disease (PD) based on this genetic insight.Publications cited are focused on LRRK2 biology between 2004 and March 2009.Literature selected was based on ...
Justus C, Dächsel, Matthew J, Farrer
openaire +2 more sources
Heterodimerization of Lrrk1–Lrrk2: Implications for LRRK2-associated Parkinson disease [PDF]
LRRK2 mutations are recognized as the most frequent genetic cause of both familial and sporadic parkinsonism identified to date. A remarkable feature of this form of parkinsonism is the variable penetrance of symptom manifestation resulting in a wide range of age-at-onset in patients. Herein we use a functional approach to identify the Lrrk1 protein as
Justus C, Dachsel +14 more
openaire +3 more sources
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause autosomal dominant Parkinson’s disease (PD), with the most common causative mutation being the LRRK2 p.G2019S within the kinase domain. LRRK2 protein is highly expressed in the human brain and also in the periphery, and high expression of dominant PD genes in immune cells suggests ...
Iqra Nazish +10 more
openaire +5 more sources
“LRRK2: Autophagy and Lysosomal Activity” [PDF]
It has been 15 years since the Leucine-rich repeat kinase 2 (LRRK2) gene was identified as the most common genetic cause for Parkinson's disease (PD). The two most common mutations are the LRRK2-G2019S, located in the kinase domain, and the LRRK2-R1441C, located in the ROC-COR domain.
Marta Madureira +3 more
openaire +3 more sources
Genetic Variants and Clinical Characteristics of Young-Onset Parkinson's Disease in the Hakka Population of Western Fujian. [PDF]
In 33 Hakka young‐onset Parkinson's disease (YOPD) patients from western Fujian, whole exome sequencing (WES) plus spinocerebellar ataxia (SCA) panel testing and multiplex ligation‐dependent probe amplification (MLPA) defined the genetic spectrum. Pathological ATXN2 repeat expansion was detected in two cases.
Pan LY +5 more
europepmc +2 more sources
LRRK2 phosphorylates pre-synaptic N-ethylmaleimide sensitive fusion (NSF) protein enhancing its ATPase activity and SNARE complex disassembling rate [PDF]
Background Lrrk2, a gene linked to Parkinson\u2019s disease, encodes a large scaffolding protein with kinase and GTPase activities implicated in vesicle and cytoskeletal-related processes.
Arrigoni, Giorgio +15 more
core +5 more sources
GTPase activity and neuronal toxicity of Parkinson's disease-associated LRRK2 is regulated by ArfGAP1. [PDF]
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of autosomal dominant familial Parkinson's disease (PD) and also contribute to idiopathic PD. LRRK2 encodes a large multi-domain protein with GTPase and kinase activity.
Klodjan Stafa +5 more
doaj +1 more source

