Progressive degeneration of human neural stem cells caused by pathogenic LRRK2.
Beijing, China. In Nature, Dec 2012
We decided to evaluate nuclear organization in the context of ageing-associated disorders by focusing on a leucine-rich repeat kinase 2 (LRRK2) dominant mutation (G2019S; glycine-to-serine substitution at amino acid 2019), which is associated with familial and sporadic Parkinson's disease as well as impairment of adult neurogenesis in mice.
Cellular reprogramming: a new approach to modelling Parkinson's disease.
Oxford, United Kingdom. In Biochem Soc Trans, Oct 2012
In the case of PD (Parkinson's disease), reprogramming is advancing rapidly, and cell lines have been generated from patients carrying mutations in several disease-associated genes, including SNCA (α-synuclein), PARK2 (parkin), PINK1 (phosphatase and tensin homologue deleted on chromosome 10-induced putative kinase 1), PARK7 (DJ-1) and LRRK2 (leucine-rich repeat kinase 2), as well as idiopathic cases.
LRRK2 and autophagy: a common pathway for disease.
London, United Kingdom. In Biochem Soc Trans, Oct 2012
LRRK2 (leucine-rich repeat kinase 2) is an enzyme implicated in human disease, containing kinase and GTPase functions within the same multidomain open reading frame.
Pathological roles of α-synuclein in neurological disorders.
More papers using
Athens, Greece. In Lancet Neurol, 2011
α-Synuclein also seems to be linked to other genetic forms of Parkinson's disease, such as those linked to mutations in GBA or LRRK2, possibly through common effects on autophagy and lysosomal function.