Results 51 to 60 of about 7,193 (199)

Screening for VPS35 mutations in Parkinson's disease

Neurobiology of Aging, 2012
Recently 2 groups have independently identified a mutation in the gene 'vacuolar protein sorting 35 homolog' (VPS35 c.1858G>A; p.Asp620Asn) as a possible cause of autosomal dominant Parkinson's disease (PD). In order to assess the frequency of the reported mutation and to search for other possible disease-causing variants in this gene, we sequenced all
Sheerin, Una-Marie, Charlesworth, Gavin, Bras, Jose, Guerreiro, Rita, Bhatia, Kailash, Foltynie, Thomas, Limousin, Patricia, Silveira-Moriyama, Laura, Lees, Andrew, Wood, Nicholas   +9 more
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Mitochondrial membrane proteins and VPS35 orchestrate selective removal of mtDNA

Nature Communications, 2022
Abstract Understanding the mechanisms governing selective turnover of mutation-bearing mtDNA is fundamental to design therapeutic strategies against mtDNA diseases. Here, we show that specific mtDNA damage leads to an exacerbated mtDNA turnover, independent of canonical macroautophagy, but relying on lysosomal function and ATG5. Using
Ayesha Sen, Sebastian Kallabis, Felix Gaedke, Christian Jüngst, Julia Boix, Julian Nüchel, Kanjanamas Maliphol, Julia Hofmann, Astrid C. Schauss, Marcus Krüger, Rudolf J. Wiesner, David Pla-Martín   +11 more
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Mitochondrial membrane proteins and VPS35 orchestrate selective removal of mtDNA [PDF]

, 2021
AbstractIntegrity of mitochondrial DNA (mtDNA), encoding several subunits of the respiratory chain, is essential to maintain mitochondrial fitness. Mitochondria, as a central hub for metabolism, are affected in a wide variety of human diseases but also during normal ageing, where mtDNA integrity is compromised.
David Pla-Martin, Ayesha Sen, Sebastian Kallabis, Julian Nüchel, Kanjanamas Maliphol, Julia Hofmann, Markus Krüger, Rudolf Wiesner   +7 more
openaire   +2 more sources

The emerging role of retromer in neuroprotection [PDF]

, 2017
Efficient sorting and transportation of integral membrane proteins, such as ion channels, nutrient transporters, signalling receptors, cell-cell and cell-matrix adhesion molecules is essential for the function of cellular organelles and hence organism ...
Cullen, Peter J, Korswagen, Hendrick C, McMillan, Kirsty J   +2 more
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Diffuse midline glioma with novel, potentially targetable, FGFR2–VPS35 fusion [PDF]

Molecular Case Studies, 2020
We report a case of a slow-growing, diffuse, infiltrating glioma in the right brainstem of a 9-yr-old boy. The tumor was negative by immunohistochemical staining for histone H3 K27M, BRAF V600E, and IDH1 R132H mutations. Fluorescence in situ hybridization did not reveal a BRAF duplication.
George Zanazzi, Benjamin L. Liechty, Danielle Pendrick, Olga Krasnozhen-Ratush, Matija Snuderl, Jeffrey C. Allen, James H. Garvin, Mahesh M. Mansukhani, Kevin A. Roth, Susan J. Hsiao   +9 more
openaire   +3 more sources

Microglial VPS35 deficiency regulates microglial polarization and decreases ischemic stroke-induced damage in the cortex

Journal of Neuroinflammation, 2019
Background Vacuolar sorting protein 35 (VPS35), a critical component of retromer, is essential for selective endosome-to-Golgi retrieval of membrane proteins. It is highly expressed in microglial cells, in addition to neurons.
Shi-Yang Ye, Joanna E. Apple, Xiao Ren, Fu-Lei Tang, Ling-Ling Yao, Yong-Gang Wang, Lin Mei, Yuan-Guo Zhou, Wen-Cheng Xiong   +8 more
doaj   +1 more source

Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval [PDF]

, 2018
The AP-5 adaptor protein complex is presumed to function in membrane traffic, but so far nothing is known about its pathway or its cargo. We have used CRISPR-Cas9 to knock out the AP-5 ζ subunit gene, AP5Z1, in HeLa cells, and then analysed the phenotype
Antrobus, Robin, Borner, Georg, Hirst, J, Itzhak, Daniel, Robinson, Margaret   +4 more
core   +3 more sources

Vps35 Mediates Vesicle Transport between the Mitochondria and Peroxisomes [PDF]

Current Biology, 2010
Mitochondria-derived vesicles (MDVs) have been shown to transport cargo from the mitochondria to the peroxisomes. Mitochondria and peroxisomes share common functions in the oxidation of fatty acids and the reduction of damaging peroxides. Their biogenesis is also linked through both the activation of master transcription factors such as PGC-1alpha and ...
Braschi, Emélie, Goyon, Vanessa, Zunino, Rodolfo, Mohanty, Abhishek, Xu, Liqun, McBride, Heidi M.   +5 more
openaire   +2 more sources

Resolving the homology-function relationship through comparative genomics of membrane-trafficking machinery and parasite cell biology [PDF]

, 2016
With advances in DNA sequencing technology, it is increasingly common and tractable to informatically look for genes of interest in the genomic databases of parasitic organisms and infer cellular states.
Aaron P. Turkewitz, Agop-Nersesian, Agop-Nersesian, Asaoka, Asaoka, Barlowe, Barth, Bashline, Baum, Bañuelos, Beck, Bennett, Biller, Blanc, Bonifacino, Bonifacino, Bradley, Braun, Bright, Briguglio, Briguglio, Buczynski, Cai, Cai, Cardona-López, Castillo-Romero, Charette, Chavrier, Chen, Chen, Choi, Chow, Christen M. Klinger, Chung, Cui, Dacks, Dacks, Dettmer, Di Rubbo, Dieckmann, Diekmann, Dutta, Ebine, Ebine, Elde, Elias, Elias, Elliott, Emily K. Herman, Essid, Ezougou, Fan, Faso, Feraru, Field, Field, Field, Fitch, Francia, Fuji, Gabernet-Castello, Gadeyne, Gao, Gao, Giansanti, Gillingham, Gotthardt, Gotthardt, Haas, Hall, Harding, Harper, Harris, Hashiguchi, Henne, Herman, Hirst, Hirst, Hirst, Huotari, Il Kwon, Il Kwon, Inmaculada Ramirez-Macias, Isono, Jackson, Jacobs, Jaillais, Jimenez-Ruiz, Joel B. Dacks, Kang, Katsiarimpa, Kibria, Kim, Kleine-Vehn, Klinger, Knödler, Kolb, Komsic-Buchmann, Komsic-Buchmann, Koonin, Koumandou, Koumandou, Krai, Kremer, Kumar, Lee, Lefkir, Lefkir, Leung, Lunn, López-Reyes, Macro, Manil-Segalén, Manna, Manna, Marion, Mark C. Field, Mattei, McGugan, Mercanti, Miranda, Miras, Mitra, Morrison, Munch, Müller-Taubenberger, Nakada-Tsukui, Neuhaus, Ngô, Ngô, Niemes, Nishimura, Niyogi, Nodzynski, Nordmann, Okada, Okada, Oliviusson, Ouologuem, Pal, Pal, Park, Parkinson, Parussini, Perez-Linero, Pourcher, Preuss, Preuss, Price, Ralston, Rauch, Reider, Reyes, Rink, Rivero, Rivero, Robibaro, Robinson, Robinson, Rojas, Rupper, Rupper, Saito-Nakano, Sangaré, Scheuring, Schlacht, Schlacht, Seaman, Seaman, Shahriari, Shimada, Silverman, Silverman, Singh, Sloves, Sohn, Song, Sosa, Spitzer, Spitzer, Spitzer, Srinivasan, Stenmark, Szumlanski, Tarnita, Tazeh, Teh, Teixeira, Temesvari, Thole, Tomavo, Touz, Touz, Ueda, Ueda, Ulrich, Viotti, Wampfler, Wang, Wang, Welz, Wen, Winter, Woo, Wurmser, Yamaoka, Yamazaki, Yang, Zelazny, Zelazny, Zoltner   +210 more
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VPS35 leaves endosomes lost in transition [PDF]

Journal of Cell Biology, 2011
![Figure][1] Relative to control cells (left), cells short on VPS35 (right) accumulate more BACE1 (red) in endosomes (green). Sluggish recycling of a protein-slicing enzyme could promote Alzheimer's disease (AD), [Wen et al.][2] show.
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