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Article

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

Molecular neurodegeneration - 28 Nov 2024

Tu Haitao, Yeo Xin Yi, Zhang Zhi-Wei, Zhou Wei, Tan Jayne Yi, Chi Li, Chia Sook-Yoong, Li Zhihong, Sim Aik Yong, Singh Brijesh Kumar, Ma Dongrui, Zhou Zhidong, Bonne Isabelle, Ling Shuo-Chien, Ng Adeline S L, Jung Sangyong, Tan Eng-King, Zeng Li

Abstract excerpt

BACKGROUND: The expansion of GGC repeats (typically exceeding 60 repeats) in the 5' untranslated region (UTR) of the NOTCH2NLC gene (N2C) is linked to N2C-related repeat expansion disorders (NREDs), such as neuronal intranuclear inclusion disease (NIID), frontotemporal dementia (FTD), essential tremor (ET), and Parkinson's disease (PD). These disorders share common clinical manifestations, including parkinsonism,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39609868
DOI: 10.1186/s13024-024-00780-2
PMCID: PMC11603791

Genes

NOTCH2NLC
MBP
MOG
TH

Variants

Provenance

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NOTCH2NLC GGC intermediate repeat with serine induces hypermyelination and early Parkinson's disease-like phenotypes in mice.PMID 39609868Read ↗

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