Neuronal intranuclear inclusion disease: Polyglycine protein is the culprit
- PMID: 34081916
- PMCID: PMC10773977
- DOI: 10.1016/j.neuron.2021.05.018
Neuronal intranuclear inclusion disease: Polyglycine protein is the culprit
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).
Copyright © 2021 Elsevier Inc. All rights reserved.
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Comment on
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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. Neuron. 2021. PMID: 33887199 Free PMC article.
References
-
- Boivin M, Deng J, Pfister V, Grandgirard E, Oulad-Abdelghani M, Morlet B, Ruffenach F, Negroni L, Koebel P, Jacob H, et al. (2021). Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases. Neuron 109, this issue, 1825–1835. - PMC - PubMed
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- Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, et al. (2019). Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat. Genet 51, 1222–1232. - PubMed
-
- Jiao B, Zhou L, Zhou Y, Weng L, Liao X, Tian Y, Guo L, Liu X, Yuan Z, Xiao X, et al. (2020). Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias. Neurobiol. Aging 89, 142.e1–142.e7. - PubMed
-
- Nakamura N, Tsunoda K, Mitsutake A, Shibata S, Mano T, Nagashima Y, Ishiura H, Iwata A, Toda T, Tsuji S, and Sawamura H (2020). Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene. Invest. Ophthalmol. Vis. Sci 61, 27. - PMC - PubMed
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