VPS35 and DNAJC13 disease-causing variants in essential tremor [PDF]
European Journal of Human Genetics, 2014 Exome-sequencing analyses have identified vacuolar protein sorting 35 homolog (VPS35) and DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13) harboring disease-causing variants for Parkinson disease (PD). Owing to the suggested clinical, pathological and genetic overlap between PD and essential tremor (ET) we assessed the presence of two VPS35 and ...
Alex, Rajput +10 more
openaire +2 more sources
Dysregulated Interorganellar Crosstalk of Mitochondria in the Pathogenesis of Parkinson’s Disease
Cells, 2020 The pathogenesis of Parkinson’s disease (PD), the second most common neurodegenerative disorder, is complex and involves the impairment of crucial intracellular physiological processes.
Lara Sironi +4 more
doaj +1 more source
Parkinson disease-linked Vps35 R524W mutation impairs the endosomal association of retromer and induces α-synuclein aggregation [PDF]
, 2016 Endosomal sorting is a highly orchestrated cellular process. Retromer is a heterotrimeric complex that associates with endosomal membranes and facilitates the retrograde sorting of multiple receptors, including the cation-independent mannose 6-phosphate ...
Ariotti, Nicholas +7 more
core +1 more source
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer disease [PDF]
, 2017 Alzheimer disease (AD), Frontotemporal lobar degeneration (FTD), Amyotrophic lateral sclerosis (ALS) and Parkinson disease (PD) have a certain degree of clinical, pathological and molecular overlap.
Alexandra Medvedeva +17 more
core +8 more sources
Atypical parkinsonism-associated retromer mutant alters endosomal sorting of specific cargo proteins [PDF]
, 2016 The retromer complex acts as a scaffold for endosomal protein complexes that sort integral membrane proteins to various cellular destinations. The retromer complex is a heterotrimer of VPS29, VPS35, and VPS26.
Adam P. Jellett +54 more
core +3 more sources
Enhanced Hyaluronan Signaling and Autophagy Dysfunction by VPS35 D620N
Neuroscience, 2020 The motor features of Parkinson's disease (PD) result from the loss of dopaminergic (DA) neurons in the substantia nigra with autophagy dysfunction being closely linked to this disease. A PD-causing familial mutation in VPS35 (D620N) has been reported to inhibit autophagy.
Abir A, Rahman +19 more
openaire +2 more sources
Retromer dependent recycling of the Wnt secretion factor Wls is dispensable for stem cell maintenance in the mammalian intestinal epithelium. [PDF]
PLoS ONE, 2013 In C. elegans and Drosophila, retromer mediated retrograde transport of Wntless (Wls) from endosomes to the trans-Golgi network (TGN) is required for Wnt secretion.
Reinoud E A de Groot +5 more
doaj +1 more source
The LRRK2-macroautophagy axis and its relevance to Parkinson's Disease [PDF]
, 2017 A wide variety of different functions and an impressive array of interactors have been associated with leucine-rich repeat kinase 2 (LRRK2) over the years. Here, I discuss the hypothesis that LRRK2 may be capable of interacting with different proteins at
Agalliu +55 more
core +1 more source
Pathogenic Mutation in VPS35 Impairs Its Protection against MPP+ Cytotoxicity [PDF]
International Journal of Biological Sciences, 2013 Parkinson's disease primarily results from progressive degeneration of dopaminergic neurons in the substantia nigra. Both neuronal toxicants and genetic factors are suggested to be involved in the disease pathogenesis. The mitochondrial toxicant 1-methyl-4-phenylpyridinium (MPP(+)) shows a highly selective toxicity to dopaminergic neurons.
Bi, Fangfang +3 more
openaire +2 more sources
Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration [PDF]
, 2017 Mutations in the vacuolar protein sorting 35 homolog (VPS35) gene at the PARK17 locus, encoding a key component of the retromer complex, were recently identified as a new cause of late-onset, autosomal dominant Parkinson's disease (PD).
Bandopadhyay, Rina +11 more
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