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Article

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

Molecular neurobiology - 1 Jan 2022

Huang Xiu-Rong, Tang Bei-Sha, Jin Peng, Guo Ji-Feng

Abstract excerpt

The human-specific gene NOTCH2NLC is primarily expressed in radial glial cells and plays an important role in neuronal differentiation and cortical neurogenesis. Increasing studies were conducted to verify the relationship between NOTCH2NLC gene and many neurological diseases, such as neuronal intranuclear inclusion disease, essential tremor, multiple system atrophy, Parkinson's disease, Alzheimer's disease, and...

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Source

Identifiers

PMID: 34718964
DOI: 10.1007/s12035-021-02616-2

Genes

NOTCH2NLC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review.PMID 34718964Read ↗

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

GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited NeuropathiesSemantic proximity Read ↗

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

Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.Semantic proximity Read ↗

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

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

Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremorSemantic proximity Read ↗

Genetic origin of sporadic cases and RNA toxicity 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 ↗

Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis.Semantic proximity Read ↗

Neuronal intranuclear inclusion disease tremor‐dominant subtype: A mimicker of essential tremorSemantic proximity Read ↗

NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disordersSemantic proximity Read ↗

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