학술논문
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).
Document Type
Article
Author
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.
Source
Subject
*PROTEOMICS
*SINGLE nucleotide polymorphisms
*NEURODEGENERATION
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Language
ISSN
2051-5960
Abstract
This document provides a summary of a study conducted on Neuronal Intranuclear Inclusion Disease (NIID), a rare neurodegenerative disorder. The study investigated the genetic basis of NIID in a cohort of European patients. The results showed that the previously reported HRNR variant, which was thought to be associated with NIID, was not present in the majority of cases. The study suggests that the molecular basis of NIID in European patients is unlikely to be due to single nucleotide variation within HRNR. Further research is needed to identify the underlying cause of NIID in these cases. [Extracted from the article]