The Wolfram-like variant WFS1 ^E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice.

Autor: Patergnani S; Department of Medical Sciences, Section of Experimental Medicine, Technopole of Ferrara, Laboratory for Advanced Therapies (LTTA), Ferrara, Italy., Bataillard MS; MMDN, University Montpellier, EPHE, INSERM, Montpellier, France., Danese A; Department of Medical Sciences, Section of Experimental Medicine, Technopole of Ferrara, Laboratory for Advanced Therapies (LTTA), Ferrara, Italy., Alves S; MMDN, University Montpellier, EPHE, INSERM, Montpellier, France., Cazevieille C; INM, University Montpellier,INSERM, Montpellier, France., Valéro R; Department of Nutrition, Metabolic Diseases and Endocrinology, Aix Marseille Univ, APHM, INSERM, INRAE, C2VN, University Hospital La Conception, Marseille, France., Tranebjærg L; The Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Maurice T; MMDN, University Montpellier, EPHE, INSERM, Montpellier, France., Pinton P; Department of Medical Sciences, Section of Experimental Medicine, Technopole of Ferrara, Laboratory for Advanced Therapies (LTTA), Ferrara, Italy., Delprat B; MMDN, University Montpellier, EPHE, INSERM, Montpellier, France., Richard EM; MMDN, University Montpellier, EPHE, INSERM, Montpellier, France.

Publikováno v: Autophagy [Autophagy] 2024 Sep; Vol. 20 (9), pp. 2055-2066. Date of Electronic Publication: 2024 Apr 23.