Results 31 to 40 of about 7,193 (199)

Stabilizing the Retromer Complex in a Human Stem Cell Model of Alzheimer's Disease Reduces TAU Phosphorylation Independently of Amyloid Precursor Protein. [PDF]

, 2018
Developing effective therapeutics for complex diseases such as late-onset, sporadic Alzheimer's disease (SAD) is difficult due to genetic and environmental heterogeneity in the human population and the limitations of existing animal models. Here, we used
Fong, Lauren K, Frankowski, Harald, Goldstein, Lawrence SB, Petsko, Gregory A, Small, Scott A, Young, Jessica E   +5 more
core   +3 more sources

Generation of three hiPSC clones from a Parkinson’s disease patient with a heterozygous variant of VPS35 p.D620N

Stem Cell Research, 2022
Approximately 10% of Parkinson's disease cases are familial and more than 20 disease-related genes have been identified. The VPS35 gene causes a rare type of Parkinson's disease called PARK17, which is inherited in an autosomal dominant manner. The VPS35
Kei-ichi Ishikawa, Mayu Ishiguro, Yuanzhe Li, Kenya Nishioka, Nobutaka Hattori, Wado Akamatsu   +5 more
doaj   +1 more source

VPS35 pathogenic mutations confer no dominant toxicity but partial loss of function in Drosophila and genetically interact with parkin. [PDF]

, 2015
Mutations in VPS35 (PARK17) cause autosomal dominant, late onset Parkinson's disease (PD). VPS35 forms a core component of the retromer complex that mediates the retrieval of membrane proteins from endosomes back to either the Golgi or plasma membrane ...
Alexander J. Whitworth, Bilal R. Malik, Sigrist, Vinay K. Godena   +3 more
core   +3 more sources

Retrieval of the Alzheimer's amyloid precursor protein from the endosome to the TGN is S655 phosphorylation state-dependent and retromer-mediated [PDF]

, 2010
Background Retrograde transport of several transmembrane proteins from endosomes to the trans-Golgi network (TGN) occurs via Rab 5-containing endosomes, mediated by clathrin and the recently characterized retromer complex.
Edgar F da Cruz e Silva, Hermann Esselmann, James Lah, Jens Wiltfang, Odete AB da Cruz e Silva, Rachel Lane, Sam Gandy, Sandra I Vieira, Sandra Rebelo, Scott A Small   +9 more
core   +2 more sources

Mannose 6-Phosphate Receptor Is Reduced in -Synuclein Overexpressing Models of Parkinsons Disease [PDF]

, 2016
Increasing evidence points to defects in autophagy as a common denominator in most neurodegenerative conditions. Progressive functional decline in the autophagy-lysosomal pathway (ALP) occurs with age, and the consequent impairment in protein processing ...
Andresen, Thomas Lars, Dzamko, Nicolas, Halliday, Glenda M., Jensen, Poul Henning, Lassen, Louise B., Madsen, Peder, Matrone, Carmela, Nielsen, Morten S., Nyegaard, Mette, Pohlmann, Regina, Søndergaard, Rikke Vicki   +10 more
core   +6 more sources

Microglial VPS35 deficiency impairs Aβ phagocytosis and Aβ-induced disease-associated microglia, and enhances Aβ associated pathology

Journal of Neuroinflammation, 2022
Background Vacuolar sorting protein 35 (VPS35), a key component of the retromer, plays an essential role in selectively retrieval of transmembrane proteins from endosomes to trans-Golgi networks.
Xiao Ren, Lingling Yao, YongGang Wang, Lin Mei, Wen-Cheng Xiong   +4 more
doaj   +1 more source

The LRRK2 signaling network converges on a centriolar phospho-Rab10/RILPL1 complex to cause deficits in centrosome cohesion and cell polarization

Biology Open, 2022
The Parkinson's-disease-associated LRRK2 kinase phosphorylates multiple Rab GTPases including Rab8 and Rab10, which enhances their binding to RILPL1 and RILPL2.
Antonio Jesús Lara Ordóñez, Rachel Fasiczka, Belén Fernández, Yahaira Naaldijk, Elena Fdez, Marian Blanca Ramírez, Sébastien Phan, Daniela Boassa, Sabine Hilfiker   +8 more
doaj   +1 more source

Cloning and Characterization of Human VPS35 and Mouse Vps35 and Mapping of VPS35 to Human Chromosome 16q13–q21

Genomics, 2000
Maintenance of different organelles in eukaryotic cells depends on sorting proteins, which ensure the proper delivery of organelle-specific proteins. The studies on yeast (Saccharomyces cerevisiae) VPS35, a hydrophilic membrane protein having a direct role in the retrieval of cargo proteins, suggest a mechanism underlying a possible lysosomal protein ...
P, Zhang, L, Yu, J, Gao, Q, Fu, F, Dai, Y, Zhao, L, Zheng, S, Zhao   +7 more
openaire   +2 more sources

Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers [PDF]

, 2017
Missense mutations in leucine-rich repeat kinase 2 (LRRK2) are pathogenic for familial Parkinson's disease. However, it is unknown whether levels of LRRK2 protein in the brain are altered in patients with LRRK2-associated Parkinson's disease.
Dzamko, N, Halliday, GM, Hasegawa, K, Holton, JL, Jeremy Nichols, R, Mash, DC, Murayama, S, Paul, J, Perera, G, Takahashi-Fujigasaki, J, Uchino, A, Vonsattel, G, Zhao, Y   +12 more
core   +1 more source

Contributions of VPS35 Mutations to Parkinson’s Disease

Neuroscience, 2019
Parkinson's Disease (PD) is a multi-system neurodegenerative disease where approximately 90% of cases are idiopathic. The remaining 10% of the cases can be traced to a genetic origin and research has largely focused on these associated genes to gain a better understanding of the molecular and cellular pathogenesis for PD.
Abir A. Rahman, Brad E. Morrison
openaire   +2 more sources