Now showing items 1-3 of 3
Acetylome in Human Fibroblasts From Parkinson's Disease Patients
(Frontiers Media SA, 2018-04-17)
Parkinson's disease (PD) is amultifactorial neurodegenerative disorder. The pathogenesis of this disease is associated with gene and environmental factors. Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most ...
Muscle wasting in myotonic dystrophies: a model of premature aging
(Frontiers Research Foundation, 2015-07-09)
Myotonic dystrophy type 1 (DM1 or Steinert's disease) and type 2 (DM2) are multisystem disorders of genetic origin. Progressive muscular weakness, atrophy and myotonia are the most prominent neuromuscular features of these ...
Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation
(Biomed Central, 2019-01-23)
Background: Mutations in LRRK2 are a common genetic cause of Parkinson's disease (PD). LRRK2 interacts with and phosphorylates a subset of Rab proteins including Rab8a, a protein which has been implicated in various ...