A missense mutation in human INSC causes peripheral neuropathy.

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Title: A missense mutation in human INSC causes peripheral neuropathy.
Authors: Yeh JY; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan., Chao HC; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Division of Neurology, Department of Medicine, Taoyuan General Hospital, Ministry of Health and Welfare, Taoyuan, Taiwan., Hong CL; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan., Hung YC; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan., Tzou FY; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan., Hsiao CT; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan., Li JL; Ph.D. Program in Translational Medicine, National Taiwan University and Academia Sinica, Taipei, Taiwan.; Department of Neurology, National Taiwan University Hospital Jinshan Branch, New Taipei City, Taiwan., Chen WJ; Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan.; Taiwan International Graduate Program in Interdisciplinary Neuroscience, National Cheng Kung University and Academia Sinica, Tapiei, Taiwan., Chou CT; Department of Neurology, Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan., Tsai YS; Cancer and Immunology Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Liao YC; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan., Lin YC; Institute of Molecular Medicine, National Tsing Hua University, HsinChu, Taiwan.; Department of Medical Science, National Tsing Hua University, HsinChu, Taiwan., Lin S; Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan., Huang SY; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan., Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Concord, NSW, Australia.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia., Lee YC; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan. ycli@vghtpe.gov.tw.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan. ycli@vghtpe.gov.tw.; Brain Research Center, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan. ycli@vghtpe.gov.tw., Chan CC; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan. chancc1@ntu.edu.tw.
Source: EMBO molecular medicine [EMBO Mol Med] 2024 May; Vol. 16 (5), pp. 1091-1114. Date of Electronic Publication: 2024 Apr 08.
Publication Type: Journal Article
Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1757-4684
DOI:10.1038/s44321-024-00062-w