神经元核内包涵体病：多聚甘氨酸蛋白是罪魁祸首。
Neuronal intranuclear inclusion disease: Polyglycine protein is the culprit.
机构信息
Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
The Buck Institute for Research on Aging 8001 Redwood Blvd, Novato, CA 94945, USA.
出版信息
Neuron. 2021 Jun 2;109(11):1757-1760. doi: 10.1016/j.neuron.2021.05.018.
Abstract
In this issue of Neuron, Boivin et al. (2021) show that a polyglycine-expanded protein, uN2CpolyG, is translated from an expansion of GGC repeats in the 5' UTR of the NOTCH2NLC (Notch homolog 2 N-terminal-like C) gene, defining a new pathological mechanism for neuronal intranuclear inclusion diseases (NIID).
摘要
在本期《神经元》杂志中，Boivin 等人（2021 年）表明，一种多甘氨酸扩展蛋白 uN2CpolyG 是由 NOTCH2NLC（Notch 同源物 2 N 端样 C）基因 5'UTR 中的 GGC 重复扩展翻译而来的，这为神经元核内包涵体病（NIID）定义了一个新的病理机制。
相似文献
1
Neuronal intranuclear inclusion disease: Polyglycine protein is the culprit.
Neuron. 2021 Jun 2;109(11):1757-1760. doi: 10.1016/j.neuron.2021.05.018.
2
Clinical, radiological, and molecular analyses of neuronal intranuclear inclusion disease with polyglycine inclusions.
J Neurol Sci. 2023 May 15;448:120618. doi: 10.1016/j.jns.2023.120618. Epub 2023 Mar 22.
3
Microglia contribute to polyG-dependent neurodegeneration in neuronal intranuclear inclusion disease.
Acta Neuropathol. 2024 Aug 16;148(1):21. doi: 10.1007/s00401-024-02776-0.
4
Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases.
Neuron. 2021 Jun 2;109(11):1825-1835.e5. doi: 10.1016/j.neuron.2021.03.038. Epub 2021 Apr 21.
5
Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: implications for polyglycine diseases.
Acta Neuropathol. 2021 Dec;142(6):1003-1023. doi: 10.1007/s00401-021-02375-3. Epub 2021 Oct 25.
6
The clinical and neuropathological picture of adult neuronal intranuclear inclusion disease with no radiological abnormality.
Neuropathology. 2022 Jun;42(3):204-211. doi: 10.1111/neup.12792. Epub 2022 Mar 10.
7
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Am J Hum Genet. 2019 Jul 3;105(1):166-176. doi: 10.1016/j.ajhg.2019.05.013. Epub 2019 Jun 6.
8
Expression of expanded GGC repeats within causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease.
Sci Adv. 2022 Nov 25;8(47):eadd6391. doi: 10.1126/sciadv.add6391. Epub 2022 Nov 23.
9
Long-read sequencing identified repeat expansions in the 5'UTR of the gene from Chinese patients with neuronal intranuclear inclusion disease.
J Med Genet. 2019 Nov;56(11):758-764. doi: 10.1136/jmedgenet-2019-106268. Epub 2019 Aug 14.
10
GGC repeat expansion in NOTCH2NLC induces dysfunction in ribosome biogenesis and translation.
Brain. 2023 Aug 1;146(8):3373-3391. doi: 10.1093/brain/awad058.
引用本文的文献
1
NOTCH2NLC GGC intermediate repeat with serine induces hypermyelination and early Parkinson's disease-like phenotypes in mice.
Mol Neurodegener. 2024 Nov 28;19(1):91. doi: 10.1186/s13024-024-00780-2.
2
Clinical features of neuronal intranuclear inclusion disease with seizures: a systematic literature review.
Front Neurol. 2024 Apr 19;15:1387399. doi: 10.3389/fneur.2024.1387399. eCollection 2024.
3
Expression of expanded GGC repeats within NOTCH2NLC causes cardiac dysfunction in mouse models.
Cell Biosci. 2023 Aug 29;13(1):157. doi: 10.1186/s13578-023-01111-6.
4
Clinical-neuroimaging-pathological relationship analysis of adult onset Neuronal Intranuclear Inclusion Disease (NIID).
BMC Neurol. 2022 Dec 15;22(1):486. doi: 10.1186/s12883-022-03025-1.
5
Recurrent headache and visual symptoms in a young man: a rare neuronal intranuclear inclusion disease case report.
BMC Neurol. 2022 Nov 2;22(1):401. doi: 10.1186/s12883-022-02936-3.
6
The polyG diseases: a new disease entity.
Acta Neuropathol Commun. 2022 May 31;10(1):79. doi: 10.1186/s40478-022-01383-y.
7
The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review.
Mol Neurobiol. 2022 Jan;59(1):523-534. doi: 10.1007/s12035-021-02616-2. Epub 2021 Oct 31.
本文引用的文献
1
Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases.
Neuron. 2021 Jun 2;109(11):1825-1835.e5. doi: 10.1016/j.neuron.2021.03.038. Epub 2021 Apr 21.
2
Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD.
Acta Neuropathol Commun. 2021 Mar 19;9(1):45. doi: 10.1186/s40478-021-01150-5.
3
Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models.
J Huntingtons Dis. 2021;10(1):123-148. doi: 10.3233/JHD-200426.
4
Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene.
Invest Ophthalmol Vis Sci. 2020 Sep 1;61(11):27. doi: 10.1167/iovs.61.11.27.
5
Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias.
Neurobiol Aging. 2020 May;89:142.e1-142.e7. doi: 10.1016/j.neurobiolaging.2020.01.010. Epub 2020 Jan 24.
6
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22.
7
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Am J Hum Genet. 2019 Jul 3;105(1):166-176. doi: 10.1016/j.ajhg.2019.05.013. Epub 2019 Jun 6.
8
TorsinA dysfunction causes persistent neuronal nuclear pore defects.
Hum Mol Genet. 2018 Feb 1;27(3):407-420. doi: 10.1093/hmg/ddx405.
9
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.
Neuron. 2017 Jan 18;93(2):331-347. doi: 10.1016/j.neuron.2016.12.016. Epub 2017 Jan 5.
10
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases.
Acta Neuropathol. 2003 Feb;105(2):103-8. doi: 10.1007/s00401-002-0614-9. Epub 2002 Sep 13.
Zotero 插件