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Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease

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Official URL:https://doi.org/10.1007/s00401-016-1615-4
PubMed:View item in PubMed
Creators Name:Andersen, O.M. and Rudolph, I.M. and Willnow, T.E.
Journal Title:Acta Neuropathologica
Journal Abbreviation:Acta Neuropathol
Volume:132
Number:5
Page Range:653-665
Date:November 2016
Abstract:Alzheimer's disease (AD) represents one of the most dramatic threats to healthy aging and devising effective treatments for this devastating condition remains a major challenge in biomedical research. Much has been learned about the molecular concepts that govern proteolytic processing of the amyloid precursor protein to amyloid-{beta} peptides (A{beta}), and how accelerated accumulation of neurotoxic A{beta} peptides underlies neuronal cell death in rare familial but also common sporadic forms of this disease. Out of a plethora of proposed modulators of amyloidogenic processing, one protein emerged as a key factor in AD pathology, a neuronal sorting receptor termed SORLA. Independent approaches using human genetics, clinical pathology, or exploratory studies in animal models all converge on this receptor that is now considered a central player in AD-related processes by many. This review will provide a comprehensive overview of the evidence implicating SORLA-mediated protein sorting in neurodegenerative processes, and how receptor gene variants in the human population impair functional receptor expression in sporadic but possibly also in autosomal-dominant forms of AD.
ISSN:0001-6322
Publisher:Springer (Germany)
Item Type:Review

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