Article

Potentially pathogenic SORL1 mutations observed in autosomal-dominant cases of Alzheimer’s disease do not modulate bAPP physiopathological processing

2023-10-02

Abstract excerpt

SORL1 gene encodes LR11/SorLA, a protein that binds -amyloid precursor protein (bAPP) and drives its intracellular trafficking. SORL1 mutations occurring frequently in a subset of familial cases of Alzheimer’s disease (AD) have been documented but their pathogenic potential is not yet clear and questions remain concerning their putative influence on the physiopathological processing of bAPP. We have assessed the...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 678a24d2-9e3b-5f50-882b-684953af4dc9
DOI: 10.20944/preprints202310.0055.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Potentially pathogenic SORL1 mutations observed in autosomal-dominant cases of Alzheimer’s disease do not modulate bAPP physiopathological processingDOI 10.20944/preprints202310.0055.v1Read

Potentially Pathogenic SORL1 Mutations Observed in Autosomal-Dominant Cases of Alzheimer's Disease Do Not Modulate APP Physiopathological Processing.Semantic proximity Read

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer diseaseSemantic proximity Read

Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease.Semantic proximity Read

Impaired SorLA maturation and trafficking as a new mechanism for <i>SORL1</i> missense variants in Alzheimer diseaseSemantic proximity Read

The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s diseaseSemantic proximity Read

Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variantsSemantic proximity Read

An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor.Semantic proximity Read

The Role of SORL1 in Alzheimer’s DiseaseSemantic proximity Read

Coding mutations in SORL1 and Alzheimer disease.Semantic proximity Read

The<i>SORL1</i>p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s diseaseSemantic proximity Read

SORL1 mutations in early- and late-onset Alzheimer diseaseSemantic proximity Read

A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.Semantic proximity Read