Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network.

Cell reports - 15 Jun 2021

Hung Christy, Tuck Eleanor, Stubbs Victoria, van der Lee Sven J, Aalfs Cora, van Spaendonk Resie, Scheltens Philip, Hardy John, Holstege Henne, Livesey Frederick J

Abstract excerpt

Dysfunction of the endolysosomal-autophagy network is emerging as an important pathogenic process in Alzheimer's disease. Mutations in the sorting receptor-encoding gene SORL1 cause autosomal-dominant Alzheimer's disease, and SORL1 variants increase risk for late-onset AD. To understand the contribution of SORL1 mutations to AD pathogenesis, we analyze the effects of a SORL1 truncating mutation on SORL1 protein...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyloid Precursor Protein Secretases
Share to Aspartic Acid Endopeptidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dementia

Share to Endosomes

Share to Gene Knockout Techniques

Share to LDL-Receptor Related Proteins

Share to Lysosomes

Share to Oligonucleotides, Antisense

Source

Open in PubMed Open full text

Identifiers

PMID: 34133918
DOI: 10.1016/j.celrep.2021.109259
PMCID: PMC8220253

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network.PMID 34133918Read ↗

Depletion of the AD risk gene <i>SORL1</i> selectively impairs neuronal endosomal traffic independent of amyloidogenic APP processingSemantic proximity Read ↗

The Alzheimer’s gene <i>SORL1</i> is a regulator of endosomal traffic and recycling in human neuronsSemantic proximity Read ↗

The Alzheimer’s gene SORL1 is a regulator of endosomal traffic and recycling in human neuronsSemantic proximity Read ↗

The Alzheimer’s disease gene <i>SORL1</i> regulates lysosome function in human microgliaSemantic proximity Read ↗

Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microgliaSemantic proximity Read ↗

The Alzheimer’s-Associated <i>SORL1</i> p.Y1816C Variant Impairs APP Sorting, Axonal Trafficking, and Neuronal Activity in iPSC-Derived Brain ModelsSemantic proximity Read ↗

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

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.Semantic proximity Read ↗

Cell-type-specific regulation of APOE levels in human neurons by the Alzheimer’s disease risk gene SORL1Semantic proximity Read ↗

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

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

Familial Alzheimer disease mutation identifies novel role of SORLA in release of neurotrophic exosomesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.