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A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting.

Autor: Fazeli E; Department of Biomedicine, Aarhus University, Høegh-Guldbergs Gade 10, DK8000 AarhusC, Denmark., Child DD; Department of Laboratory Medicine and Pathology, University of Washington, Seattle Washington USA., Bucks SA; Department of Neurology, University of Washington, Seattle Washington USA., Stovarsky M; Department of Medicine, Division of Medical Genetics University of Washington, Seattle Washington USA., Edwards G; Department of Neurology, University of Washington, Seattle Washington USA., Rose SE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle Washington USA., Yu CE; Department of Medicine, Division of Medical Genetics University of Washington, Seattle Washington USA.; Geriatric Research Education and Clinical Center (GRECC), Veterans Administration Health Care System., Latimer C; Department of Laboratory Medicine and Pathology, University of Washington, Seattle Washington USA., Kitago Y; Ann Romney Center for Neurologic Diseases, Harvard Medical School and Brigham and Women's Hospital, Boston, MA 02115., Bird T; Department of Neurology, University of Washington, Seattle Washington USA.; Department of Medicine, Division of Medical Genetics University of Washington, Seattle Washington USA.; Geriatric Research Education and Clinical Center (GRECC), Veterans Administration Health Care System., Jayadev S; Department of Neurology, University of Washington, Seattle Washington USA., Andersen OM; Department of Biomedicine, Aarhus University, Høegh-Guldbergs Gade 10, DK8000 AarhusC, Denmark., Young JE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle Washington USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Nov 13. Date of Electronic Publication: 2023 Nov 13.