Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
作者信息
Luo Huihui, Gustavsson Emil K, Macpherson Hannah, Dominik Natalia, Zhelcheska Kristina, Montgomery Kylie, Anderson Claire, Yau Wai Yan, Efthymiou Stephanie, Turner Chris, DeTure Michael, Dickson Dennis W, Josephs Keith A, Revesz Tamas, Lashley Tammaryn, Halliday Glenda, Rowe Dominic B, McCann Emily, Blair Ian, Lees Andrew J, Tienari Pentti J, Suomalainen Anu, Molina-Porcel Laura, Kovacs Gabor G, Gelpi Ellen, Hardy John, Haltia Matti J, Tucci Arianna, Jaunmuktane Zane, Ryten Mina, Houlden Henry, Chen Zhongbo
机构信息
Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
出版信息
Acta Neuropathol Commun. 2024 Jan 2;12(1):2. doi: 10.1186/s40478-023-01706-7.
Abstract
摘要
相似文献
1
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Acta Neuropathol Commun. 2024 Jan 2;12(1):2. doi: 10.1186/s40478-023-01706-7.
2
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Acta Neuropathol Commun. 2022 Mar 4;10(1):28. doi: 10.1186/s40478-022-01333-8.
3
Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease.
Neurobiol Dis. 2023 Feb;177:105989. doi: 10.1016/j.nbd.2023.105989. Epub 2023 Jan 5.
4
NSF, Unc-18-1, dynamin-1 and HSP90 are inclusion body components in neuronal intranuclear inclusion disease identified by anti-SUMO-1-immunocapture.
Acta Neuropathol. 2008 Dec;116(6):603-14. doi: 10.1007/s00401-008-0437-4. Epub 2008 Oct 3.
5
Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies.
Mov Disord. 2005 Oct;20(10):1345-9. doi: 10.1002/mds.20559.
6
Neuronal intranuclear inclusion disease: recognition and update.
J Neural Transm (Vienna). 2021 Mar;128(3):295-303. doi: 10.1007/s00702-021-02313-3. Epub 2021 Feb 18.
7
[Neuronal intranuclear hyaline inclusion disease (NIHID): an update].
Brain Nerve. 2015 Feb;67(2):199-204. doi: 10.11477/mf.1416200112.
8
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.
9
Valosin-containing protein immunoreactivity in tauopathies, synucleinopathies, polyglutamine diseases and intranuclear inclusion body disease.
Neuropathology. 2013 Dec;33(6):637-44. doi: 10.1111/neup.12050. Epub 2013 Jun 19.
10
Ubiquitin-related proteins in neuronal and glial intranuclear inclusions in intranuclear inclusion body disease.
Pathol Int. 2012 Jun;62(6):407-11. doi: 10.1111/j.1440-1827.2012.02812.x. Epub 2012 Mar 16.
本文引用的文献
1
The polyG diseases: a new disease entity.
Acta Neuropathol Commun. 2022 May 31;10(1):79. doi: 10.1186/s40478-022-01383-y.
2
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Acta Neuropathol Commun. 2022 Mar 4;10(1):28. doi: 10.1186/s40478-022-01333-8.
3
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.
4
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Ann Clin Transl Neurol. 2020 Sep;7(9):1716-1725. doi: 10.1002/acn3.51151. Epub 2020 Aug 10.
5
The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
6
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22.
7
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.
8
Genetic effects on gene expression across human tissues.
Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277.
9
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.
Brain. 2016 Dec;139(Pt 12):3170-3186. doi: 10.1093/brain/aww249. Epub 2016 Oct 25.
10
Neuronal intranuclear inclusion disease in identical twins.
Ann Neurol. 1984 Apr;15(4):316-21. doi: 10.1002/ana.410150403.
Zotero 插件