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Open Access 01-12-2024 | Letter to the Editor

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)

Authors: Huihui Luo, Emil K. Gustavsson, Hannah Macpherson, Natalia Dominik, Kristina Zhelcheska, Kylie Montgomery, Claire Anderson, Wai Yan Yau, Stephanie Efthymiou, Chris Turner, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Tamas Revesz, Tammaryn Lashley, Glenda Halliday, Dominic B. Rowe, Emily McCann, Ian Blair, Andrew J. Lees, Pentti J. Tienari, Anu Suomalainen, Laura Molina-Porcel, Gabor G. Kovacs, Ellen Gelpi, John Hardy, Matti J. Haltia, Arianna Tucci, Zane Jaunmuktane, Mina Ryten, Henry Houlden, Zhongbo Chen

Published in: Acta Neuropathologica Communications | Issue 1/2024

Excerpt

We read with interest the work by Park and colleagues, which attempted to elucidate the composition of neuronal intranuclear inclusions (NIIs), central to the pathology of neuronal intranuclear inclusion disease (NIID) [1]. NIID is a clinically heterogeneous neurodegenerative disorder characterised by these intranuclear eosinophilic ubiquitinated inclusions in both neuronal and non-neuronal cells [2]. Using different proteomic approaches to study compositionally biased regions, which have traditionally been elusive to analysis due to their inherent insolubility, the authors identified hornerin, a serine-rich protein, to be a major component of the inclusions [1]. …

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Park H, Yamanaka T, Toyama Y, Fujita A, Nirasawa T, Murayama S et al (2022) Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions. Acta Neuropathol Commun 10(1):1–17CrossRef

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Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K et al (2019) Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet 51(8):1215–1221CrossRefPubMed

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Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, GaglianoTaliun SA et al (2020) Neuronal intranuclear inclusion disease is genetically heterogeneous. Ann Clin Transl Neurol 7(9):1716–1725CrossRefPubMedPubMedCentral

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Title: 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)
Authors: Huihui Luo
Emil K. Gustavsson
Hannah Macpherson
Natalia Dominik
Kristina Zhelcheska
Kylie Montgomery
Claire Anderson
Wai Yan Yau
Stephanie Efthymiou
Chris Turner
Michael DeTure
Dennis W. Dickson
Keith A. Josephs
Tamas Revesz
Tammaryn Lashley
Glenda Halliday
Dominic B. Rowe
Emily McCann
Ian Blair
Andrew J. Lees
Pentti J. Tienari
Anu Suomalainen
Laura Molina-Porcel
Gabor G. Kovacs
Ellen Gelpi
John Hardy
Matti J. Haltia
Arianna Tucci
Zane Jaunmuktane
Mina Ryten
Henry Houlden
Zhongbo Chen
Publication date: 01-12-2024
Publisher: BioMed Central
Published in: Acta Neuropathologica Communications / Issue 1/2024
Electronic ISSN: 2051-5960
DOI: https://doi.org/10.1186/s40478-023-01706-7

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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)

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