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

An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD

25 Jul 2022

Abstract excerpt

Dysfunction and degeneration of synapses is a common feature of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). A GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene is the main genetic cause of ALS/FTD (C9ALS/FTD). The repeat expansion leads to reduced expression of the C9orf72 protein. How C9orf72 haploinsufficiency contributes to disease has not been resolved. Here we identify the...

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 Cholinesterase and Neurodegenerative Diseases
Share to Genetic Neurodegenerative Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35876881
DOI: 10.1007/s00401-022-02470-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTDPMID 35876881Read ↗

Synaptic proteomics reveal distinct molecular signatures of cognitive change and C9ORF72 repeat expansion in the human ALS cortexSemantic proximity Read ↗

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

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

Synaptic proteomics reveal distinct molecular signatures of cognitive change and<i>C9ORF72</i>repeat expansion in the human ALS cortexSemantic proximity Read ↗

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

Breakdown of the central synapses in C9orf72-linked ALS/FTDSemantic proximity Read ↗

Integrative synaptosome multi-omics reveals disrupted synapse organization and localized cryptic transcripts in <i>C9ORF72</i> -Frontotemporal DementiaSemantic proximity Read ↗

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.Semantic proximity Read ↗

Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoidsSemantic 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 ↗

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementiaSemantic proximity Read ↗

Frontotemporal dementia patient-derived iPSC neurons show cell pathological hallmarks and evidence for synaptic dysfunction and DNA damageSemantic proximity Read ↗

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