| Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation. | Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.
van der Welle REN, Jobling R, Burns C, Sanza P, van der Beek JA, Fasano A, Chen L, Zwartkruis FJ, Zwakenberg S, Griffin EF, Ten Brink C, Veenendaal T, Liv N, van Ravenswaaij-Arts CMA, Lemmink HH, Pfundt R, Blaser S, Sepulveda C, Lozano AM, Yoon G, Santiago-Sim T, Asensio CS, Caldwell GA, Caldwell KA, Chitayat D, Klumperman J., Free PMC Article | 10/30/2021 |
| Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. | Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N., Free PMC Article | 08/14/2021 |
| Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. | Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J, Genomics England Research Consortium. | 12/19/2020 |
| Here, the authors show that Vps8 overexpression inhibits homotypic fusion and vacuole protein sorting (HOPS)-dependent trafficking routes including late endosome maturation, autophagosome-lysosome fusion, crinophagy and lysosome-related organelle formation. Mechanistically, Vps8 overexpression abolishes the late endosomal localization of HOPS-specific Vps41/Lt and prevents HOPS assembly. | Vps8 overexpression inhibits HOPS-dependent trafficking routes by outcompeting Vps41/Lt.
Lőrincz P, Kenéz LA, Tóth S, Kiss V, Varga Á, Csizmadia T, Simon-Vecsei Z, Juhász G., Free PMC Article | 02/29/2020 |
| Our results indicate that an ARF-like GTPase gene product, ARL-8, mitigates endocytic Ab neurodegeneration in a VPS-41-dependent manner, rather than through RAB-7 and AP3 as with alpha-synuclein..we demonstrate that the LC3 orthologue, LGG-2, plays a critical role in Ab toxicity with ARL-8. | Distinct functional roles of Vps41-mediated neuroprotection in Alzheimer's and Parkinson's disease models of neurodegeneration.
Griffin EF, Yan X, Caldwell KA, Caldwell GA., Free PMC Article | 05/11/2019 |
| VPS18 recruits VPS41 to the human HOPS complex via a RING-RING interaction | VPS18 recruits VPS41 to the human HOPS complex via a RING-RING interaction.
Hunter MR, Scourfield EJ, Emmott E, Graham SC., Free PMC Article | 10/28/2017 |
| VPS41 subunit of HOPS complex was defined to be the major partner for interacting with RILP. | RILP interacts with HOPS complex via VPS41 subunit to regulate endocytic trafficking.
Lin X, Yang T, Wang S, Wang Z, Yun Y, Sun L, Zhou Y, Xu X, Akazawa C, Hong W, Wang T., Free PMC Article | 10/10/2015 |
| hVps41 and VAMP7 are specifically involved in the fusion of trans-Golgi network-derived lysosome-associated membrane protein carriers with late endosomes. | hVps41 and VAMP7 function in direct TGN to late endosome transport of lysosomal membrane proteins.
Pols MS, van Meel E, Oorschot V, ten Brink C, Fukuda M, Swetha MG, Mayor S, Klumperman J. | 06/22/2013 |
| Vps41 knockdown impairs late endosome fusion and fusion between late endosomes and lysosomes. | The HOPS proteins hVps41 and hVps39 are required for homotypic and heterotypic late endosome fusion.
Pols MS, ten Brink C, Gosavi P, Oorschot V, Klumperman J. | 06/15/2013 |
| Both a functional heterotetrameric adaptor protein complex and a homotypic fusion and vacuole protein sorting-tethering complex are required for VPS41 to elicit neuroprotection in a transgenic model of Parkinson's disease. | Functional analysis of VPS41-mediated neuroprotection in Caenorhabditis elegans and mammalian models of Parkinson's disease.
Harrington AJ, Yacoubian TA, Slone SR, Caldwell KA, Caldwell GA., Free PMC Article | 03/31/2012 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| These data show that hVPS41 is protective against both alpha-syn and neurotoxic-mediated injury in invertebrate and cellular models of PD. | VPS41, a protein involved in lysosomal trafficking, is protective in Caenorhabditis elegans and mammalian cellular models of Parkinson's disease.
Ruan Q, Harrington AJ, Caldwell KA, Caldwell GA, Standaert DG., Free PMC Article | 06/28/2010 |