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

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成果类型：

期刊论文

作者：

Pan, Yongcheng;Jiang, Ying;Wan, Juan;Hu, Zhengmao;Jiang, Hong;...

通讯作者：

Liu, Q;Tian, Y

作者机构：

[Liu, Qiong; Tang, Beisha; Jiang, Hong; Pan, Yongcheng; Shen, Lu] Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China.

[Liu, Qiong; Tang, Beisha; Jiang, Hong; Pan, Yongcheng; Shen, Lu] Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha 410008, Hunan, Peoples R China.

[Jiang, Ying; Hu, Zhengmao] Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410078, Hunan, Peoples R China.

[Jiang, Ying; Hu, Zhengmao] Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha 410078, Hunan, Peoples R China.

[Tang, Beisha; Wan, Juan] Univ South China, Affiliated Hosp 1, Multiom Res Ctr Brain Disorders, Hengyang Med Sch,Dept Neurol, Hengyang 421000, Hunan, Peoples R China.

通讯机构：

[Liu, Q ; Tian, Y ] C

Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China.

Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha 410008, Hunan, Peoples R China.

Cent South Univ, Xiangya Hosp, Dept Geriatr, Changsha 410008, Hunan, Peoples R China.

语种：

英文

关键词：

NOTCH2NLC gene;GGC repeat expansion;NOTCH2NLC-polyG inclusions;Cardiomyocyte;Cardiac dysfunction;Mitochondria

期刊：

Cell and Bioscience

ISSN：

2045-3701

年：

2023

卷：

期：

页码：

1-16

DOI：

10.1186/s13578-023-01111-6

基金类别：

This study was supported by the National Key R&D Program of China (No. 2021YFA0805200 to H J), the National Natural Science Foundation of China (32071037 to Q L, 82171843 to Y P), and the Natural Science Foundation of Hunan Province (2023JJ10097 and 2021JJ41009 to Q L, 2021JJ41014 to Y P).

机构署名：

本校为其他机构

院系归属：

医学院

摘要：

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 cognitive impairment, cerebellar ataxia, parkinsonism, paroxysmal symptoms, autonomic dysfunction, and muscle weakness. Although NIID primarily aff...

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

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