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

Topics Community

Article

ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ

15 Mar 2021

Abstract excerpt

Previously, we identified missense mutations in CCNF that are causative of familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Hallmark features of these diseases include the build-up of insoluble protein aggregates as well as the mislocalization of proteins such as transactive response DNA binding protein 43 kDa (TDP-43). In recent years, the dysregulation of SFPQ...

Topics

Join the communities discussing this publication.

Amyotrophic Lateral Sclerosis Research
Genetics and Neurodevelopmental Disorders
Neurogenetic and Muscular Disorders Research

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 33729478
DOI: 10.1093/hmg/ddab073

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQPMID 33729478Read ↗

Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD.Semantic proximity Read ↗

BioID analysis of the cyclin F interactome reveals that ALS-variant cyclin F alters the homeostasis of paraspeckle-associated proteinsSemantic proximity Read ↗

The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis.Semantic proximity Read ↗

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read ↗

ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.Semantic proximity Read ↗

TDP-43 is a ubiquitylation substrate of the SCFcyclin F complexSemantic proximity Read ↗

ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation.Semantic proximity Read ↗

TDP-43 pathology and functional deficits in wild-type and ALS/FTD mutant cyclin F mouse models.Semantic proximity Read ↗

Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activitySemantic proximity Read ↗

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagySemantic proximity Read ↗

The Molecular Intersection of NEK1, C21ORF2, Cyclin F, and VCP in ALS PathogenesisSemantic proximity Read ↗

SFPQ dysregulation promotes TDP-43 pathology through a pathogenic feedback loopSemantic proximity Read ↗

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