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

Expression of expanded GGC repeats within NOTCH2NLC causes cardiac dysfunction in mouse models

29 Aug 2023

Abstract excerpt

BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by widespread intranuclear inclusions in the nervous system as well as multiple visceral organs. In 2019, expanded GGC repeats within the 5' untranslated region of the NOTCH2NLC gene was identified as the causative factor. NIID is a heterogeneous disorder with variable clinical manifestations including...

Read the complete abstract on PubMed

Topics

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

Share to Fetal and Pediatric Neurological Disorders
Share to Genetic Neurodegenerative Diseases
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37644522
DOI: 10.1186/s13578-023-01111-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expression of expanded GGC repeats within NOTCH2NLC causes cardiac dysfunction in mouse modelsPMID 37644522Read ↗

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related DisordersSemantic proximity Read ↗

NOTCH2NLC GGC intermediate repeat with serine induces hypermyelination and early Parkinson's disease-like phenotypes in mice.Semantic proximity Read ↗

GGC repeat expansion in NOTCH2NLC induces dysfunction in ribosome biogenesis and translationSemantic proximity Read ↗

NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlationSemantic proximity Read ↗

Neuronal intranuclear inclusion disease is genetically heterogeneous.Semantic proximity Read ↗

Proteomic profile of nuclei containing p62-positive inclusions in neuronal intranuclear inclusion diseaseSemantic proximity Read ↗

Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion diseaseSemantic proximity Read ↗

Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat ExpansionSemantic proximity Read ↗

The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review.Semantic proximity Read ↗

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy.Semantic proximity Read ↗

NOTCH2NLC mutation-positive neuronal intranuclear inclusion disease with retinal dystrophy: A case report and literature review.Semantic proximity Read ↗

Long-read sequencing identifies GGC repeat expansion in human-specific <i>NOTCH2NLC</i> associated with neuronal intranuclear inclusion diseaseSemantic proximity Read ↗

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