Genetics of Parkinson's disease: the yield.
Lausanne, Switzerland. In Parkinsonism Relat Disord, 31 Jan 2014
Monogenic causes include autosomal dominantly (SNCA, LRRK2, VPS35, EIF4G1) as well as recessively (PARK2, PINK1, DJ-1) inherited mutations.
DNAJC13 mutations in Parkinson disease.
Vancouver, Canada. In Hum Mol Genet, 11 Dec 2013
DNAJC13 immunoreactivity was also noted within Lewy body inclusions.In late-onset disease which is most reminiscent of idiopathic PD subtle deficits in endosomal receptor sorting/recycling are highlighted by the discovery of pathogenic mutations VPS35, LRRK2, and now DNAJC13.
A strategy for the generation, characterization and distribution of animal models by The Michael J. Fox Foundation for Parkinson's Research.
New York City, United States. In Dis Model Mech, 30 Nov 2013
To date, MJFF has initiated and funded the generation of 30 different models, which include transgenic or knockout models of PD-relevant genes such as Park1 (also known as Park4 and SNCA), Park8 (LRRK2), Park7 (DJ-1), Park6 (PINK1), Park2 (Parkin), VPS35, EiF4G1 and GBA.
The genetics and neuropathology of Parkinson's disease.
London, United Kingdom. In Acta Neuropathol, Sep 2012
We summarize the genetic, clinical and pathological findings of autosomal dominant disease linked to mutations in SNCA, LRRK2, ATXN2, ATXN3, MAPT, GCH1, DCTN1 and VPS35.
Update on genetics of parkinsonism.
Jacksonville, United States. In Neurodegener Dis, 2011
OBJECTIVE: We provide a brief review of the current status of PARK and non-PARK loci/genes, and discuss two new genes: eIF4G1 and VPS35.
VPS35 mutations in Parkinson disease.
Vancouver, Canada. In Am J Hum Genet, 2011
Disruption of VPS35 and retromer-mediated trans-membrane protein sorting, rescue, and recycling in the neurodegenerative process led to Parkinson disease.