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

Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish

25 Jun 2021

Abstract excerpt

The most common genetic cause of amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD) is a hexanucleotide repeat expansion within the C9orf72 gene. Reduced levels of C9orf72 mRNA and protein have been found in ALS/FTD patients, but the role of this protein in disease pathogenesis is still poorly understood. Here, we report the generation and characterization of a stable C9orf72 loss-of-function...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis Research
Share to Neurogenetic and Muscular Disorders Research
Share to Parkinson's Disease Mechanisms and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34172817
DOI: 10.1038/s42003-021-02302-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafishPMID 34172817Read ↗

Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafishSemantic proximity Read ↗

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

C9ORF72 deficiency results in degeneration of the zebrafish retina <i>in vivo</i>Semantic proximity Read ↗

Targeting calpastatin pharmacologically restores synaptic proteolysis and preserves motor neurons survival and function in C9orf72 ALSSemantic proximity Read ↗

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.Semantic proximity Read ↗

Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD.Semantic proximity Read ↗

An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTDSemantic proximity Read ↗

C9ORF72 expression and cellular localization over mouse developmentSemantic proximity Read ↗

Characterization of a C9orf72 Knockout Danio rerio model for ALS and cross-species validation of potential therapeutics screened in Caenorhabditis elegans.Semantic proximity Read ↗

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal traffickingSemantic proximity Read ↗

Characterization of a C9orf72 Knockout <i>Danio rerio</i> model for ALS and cross-species validation of potential therapeutics screened in <i>Caenorhabditis elegans</i>Semantic proximity Read ↗

Fragile X Premutation rCGG Repeats Impairs Synaptic Growth and Synaptic Transmission at <i>Drosophila</i> larval Neuromuscular JunctionSemantic proximity Read ↗

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