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LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics.
Muffels IJJ, Carter T, Rehmann H, Vastert SJ, Verrijn Stuart AA, Blank AC, Garde A, van der Zwaag B, De Lange IM, Giltay JC, van Gassen KLI, Koop K, Asensio CS, van Hasselt PM. Muffels IJJ, et al. Among authors: asensio cs. iScience. 2025 May 5;28(6):112585. doi: 10.1016/j.isci.2025.112585. eCollection 2025 Jun 20. iScience. 2025. PMID: 40491492 Free PMC article.
Cab45G trafficking through the insulin secretory pathway is altered in human type 2 diabetes.
Germanos M, Yau B, Taper M, Yeoman C, Wilson A, An Y, Cattin-Ortolá J, Masler D, Tong J, Naghiloo S, Needham EJ, van der Kraan AG, Sun K, Loudovaris T, Diaz-Vegas A, Larance M, Thomas H, von Blume J, Thorn P, Ailion M, Asensio C, Kebede MA. Germanos M, et al. iScience. 2024 Dec 30;28(2):111719. doi: 10.1016/j.isci.2024.111719. eCollection 2025 Feb 21. iScience. 2024. PMID: 39898024 Free PMC article.
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. van der Welle REN, et al. Among authors: asensio cs. EMBO Mol Med. 2021 May 7;13(5):e13258. doi: 10.15252/emmm.202013258. Epub 2021 Apr 14. EMBO Mol Med. 2021. PMID: 33851776 Free PMC article.
Pancreatic β-Cell-Specific Deletion of VPS41 Causes Diabetes Due to Defects in Insulin Secretion.
Burns CH, Yau B, Rodriguez A, Triplett J, Maslar D, An YS, van der Welle REN, Kossina RG, Fisher MR, Strout GW, Bayguinov PO, Veenendaal T, Chitayat D, Fitzpatrick JAJ, Klumperman J, Kebede MA, Asensio CS. Burns CH, et al. Among authors: asensio cs. Diabetes. 2021 Feb;70(2):436-448. doi: 10.2337/db20-0454. Epub 2020 Nov 9. Diabetes. 2021. PMID: 33168621 Free PMC article.
22 results