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

• Published in: Molecular neurodegeneration Vol. 19; no. 1; pp. 91 - 26
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 28.11.2024; BioMed Central; BMC
• Subjects: AGC interruption; Animals; Cell death; Disease Models, Animal; Diseases; Genetic engineering; GGC repeat expansion; Humans; Hyperexcitability; Intercellular Signaling Peptides and Proteins; Intermediate repeat; Intranuclear Inclusion Bodies - genetics; Intranuclear Inclusion Bodies - metabolism; Intranuclear Inclusion Bodies - pathology; Mice; Mice, Transgenic; Mitochondrial dysfunction; Nerve Tissue Proteins; Neurons; NOTCH2NLC; Parkinson Disease - genetics; Parkinson Disease - metabolism; Parkinson Disease - pathology; Parkinson's disease; Phenotype; Serine; Serine - genetics; Serine - metabolism; Tremor; Trinucleotide Repeat Expansion - genetics; Tyrosine; Intermediate repeat; Mitochondrial dysfunction; AGC interruption; Early Parkinson’s disease; Hyperexcitability; Hypermyelination; GGC repeat expansion; NOTCH2NLC

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)...