Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation

Autor: David Chitayat, Carolina Sepulveda, Tineke Veenendaal, Grace Yoon, Cedric S. Asensio, Henny H. Lemmink, Nalan Liv, Susan Zwakenberg, Andres M. Lozano, Guy A. Caldwell, Edward F Griffin, Fried J. T. Zwartkruis, Rolph Pfundt, Reini E.N. van der Welle, Judith Klumperman, Corlinda ten Brink, Christian H. Burns, Lan Chen, Rebekah Jobling, Paolo Sanza, Susan Blaser, Teresa Santiago-Sim, Alfonso Fasano, Kim A. Caldwell, Jan van der Beek, Conny M. A. van Ravenswaaij-Arts

Publikováno v: EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
EMBO Molecular Medicine, 13
EMBO Molecular Medicine, 13, 5
EMBO Molecular Medicine, 13(5):13243, 1-24. Wiley
EMBO Molecular Medicine

Vacuolar protein sorting 41 (VPS41) is as part of the Homotypic fusion and Protein Sorting (HOPS) complex required for lysosomal fusion events and, independent of HOPS, for regulated secretion. Here, we report three patients with compound heterozygou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a105fc53635f251797810bb00f87610
https://doi.org/10.15252/emmm.202013258

Pancreatic β-cell specific deletion of VPS41 causes diabetes due to defects in insulin secretion

Autor: Cedric S. Asensio, Melkam A. Kebede, Judith Klumperman, James A.J. Fitzpatrick, David Chitayat, Tineke Veenendaal, Peter O. Bayguinov, Gregory W. Strout, Max R. Fisher, Ross G. Kossina, Reini E.N. van der Welle, You Sun An, Drew Maslar, Jenna Triplett, Anjelica Rodriguez, Belinda Yau, Christian H. Burns, Ada Admin

Insulin secretory granules (SGs) mediate the regulated secretion of insulin, which is essential for glucose homeostasis. The basic machinery responsible for this regulated exocytosis consists of specific proteins present both at the plasma membrane a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c93309934e9648c88d7efe463a9d638
https://doi.org/10.2337/figshare.13184927.v1

Author Correction: Vps3 and Vps8 control integrin trafficking from early to recycling endosomes and regulate integrin-dependent functions

Autor: Coert Margadant, Tineke Veenendaal, Johan de Rooij, Corlinda ten Brink, Andrew A. Peden, Nalan Liv, Judith Klumperman, Caspar T. H. Jonker, Reini E.N. van der Welle, Romain Galmes, Peter van der Sluijs

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cfcd643ee6eb310d1382b15fa2e3946
https://doaj.org/article/99c88c2061e746ffab9ef57578589c44