Proteasome impairment in neural cells derived from HMSN-P patient iPSCs 10

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Proteasome impairment in neural cells derived from HMSN-P patient iPSCs

Persistent ID (NDL): info:ndljp/pid/10371161

Material type: 博士論文

Author: Murakami, Nagahisaほか

Publisher: Springer nature

Publication date: 2017-02-15

Material Format: Digital

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Name of awarding university/degree: 徳島大学,博士（医学）

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Note (General)：: Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a heterozygous mutation (P285L) in Tropomyosin-recept...

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Material Type: 博士論文
ISSN: 1756-6606
Title: Proteasome impairment in neural cells derived from HMSN-P patient iPSCs
Volume: 10
Author/Editor: Murakami, Nagahisa
Imamura, Keiko
Izumi, Yuishin
Egawa, Naohiro
Tsukita, Kayoko
Enami, Takako
Yamamoto, Takuya
Kawarai, Toshitaka
Kaji, Ryuji
Inoue, Haruhisa
Author Heading: Murakami, Nagahisa
Imamura, Keiko
Izumi, Yuishin
Egawa, Naohiro
Tsukita, Kayoko
Enami, Takako
Yamamoto, Takuya
Kawarai, Toshitaka
Kaji, Ryuji
Inoue, Haruhisa
Publication, Distribution, etc.: Springer nature
Publication Date: 2017-02-15
Publication Date (W3CDTF): 2017-02-15
Alternative Title: 近位筋優位運動感覚ニューロパチー(HMSN-P)患者iPS細胞から分化した神経細胞はプロテアソーム障害を認める
Periodical title: Molecular Brain
Degree grantor/type: 徳島大学
Date Granted: 2017-04-27
Date Granted (W3CDTF): 2017-04-27
Dissertation Number: 甲第3094号
Degree Type: 博士（医学）
Conferring No. (Dissertation): 甲第3094号
Text Language Code: eng
Subject Heading: HMSN-P
TFG
UPS
iPSCs
Gene correction
CRISPR-Cas9
Neurodegeneration
Target Audience: 一般
Note (General): Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a heterozygous mutation (P285L) in Tropomyosin-receptor kinase Fused Gene (TFG), histopathologically characterized by progressive spinal motor neuron loss with TFG cytosolic aggregates. Although the TFG protein, found as a type of fusion oncoprotein, is known to facilitate vesicle transport from endoplasmic reticulum (ER) to Golgi apparatus at ER exit site, it is unclear how mutant TFG causes motor neuron degeneration. Here we generated induced pluripotent stem cells (iPSCs) from HMSN-P patients, and differentiated the iPSCs into neural cells with spinal motor neurons (iPS-MNs). We found that HMSN-P patient iPS-MNs exhibited ubiquitin proteasome system (UPS) impairment, and HMSN-P patient iPS-MNs were vulnerable to UPS inhibitory stress. Gene correction of the mutation in TFG using the CRISPR-Cas9 system reverted the cellular phenotypes of HMSN-P patient iPS-MNs. Collectively, these results suggest that our cellular model with defects in cellular integrity including UPS impairments may lead to identification of pathomechanisms and a therapeutic target for HMSN-P.
DOI: info:doi/10.1186/s13041-017-0286-y
https://doi.org/info:doi/10.1186/s13041-017-0286-y
Persistent ID (NDL): info:ndljp/pid/10371161
https://dl.ndl.go.jp/pid/10371161
Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文
https://dl.ndl.go.jp/collections/A00014
Acquisition Basis: 博士論文（自動収集）
Date Accepted (W3CDTF): 2017-07-03T04:10:06+09:00
Format (IMT): application/pdf
Access Restrictions: 国立国会図書館内限定公開
Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
Availability of remote photoduplication service: 可
Periodical Title (URI): http://repo.lib.tokushima-u.ac.jp/110142
Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション
https://dl.ndl.go.jp