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

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.

Science translational medicine - 13 Jul 2016

Burberry Aaron, Suzuki Naoki, Wang Jin-Yuan, Moccia Rob, Mordes Daniel A, Stewart Morag H, Suzuki-Uematsu Satomi, Ghosh Sulagna, Singh Ajay, Merkle Florian T, Koszka Kathryn, Li Quan-Zhen, Zon Leonard, Rossi Derrick J, Trowbridge Jennifer J, Notarangelo Luigi D, Eggan Kevin

Abstract excerpt

C9ORF72 mutations are found in a significant fraction of patients suffering from amyotrophic lateral sclerosis and frontotemporal dementia, yet the function of the C9ORF72 gene product remains poorly understood. We show that mice harboring loss-of-function mutations in the ortholog of C9ORF72 develop splenomegaly, neutrophilia, thrombocytopenia, increased expression of inflammatory cytokines, and severe...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune Diseases
Share to Autoimmunity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to C9orf72 Protein

Share to CRISPR-Cas Systems

Share to Cytokines

Share to Leukemia

Share to Splenomegaly

Share to Thrombocytopenia

Source

Open in PubMed Open full text

Identifiers

PMID: 27412785
DOI: 10.1126/scitranslmed.aaf6038
PMCID: PMC5024536

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

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.PMID 27412785Read ↗

<i>C9orf72</i> is required for proper macrophage and microglial function in miceSemantic proximity Read ↗

Neuroimmune dysfunction in frontotemporal dementia: Insights from progranulin and C9orf72 deficiency.Semantic proximity Read ↗

C9orf72 suppresses systemic and neural inflammation induced by gut bacteriaSemantic proximity Read ↗

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.Semantic proximity Read ↗

C9ORF72: What It Is, What It Does, and Why It MattersSemantic proximity Read ↗

The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis.Semantic proximity Read ↗

Cellular and physiological functions of C9ORF72 and implications for ALS/FTD.Semantic proximity Read ↗

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathwaySemantic proximity Read ↗

Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal DementiaSemantic proximity Read ↗

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.Semantic proximity Read ↗

Autoimmune and neuropsychiatric phenotypes in a Mecp2 transgenic mouse model on C57BL/6 background.Semantic proximity Read ↗

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosisSemantic proximity Read ↗

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