Effect of isolated AMP deaminase deficiency on skeletal muscle function

Cheng, Jidong; Morisaki, Hiroko; Sugimoto, Naomi; Dohi, Atsushi; Shintani, Takuya; Kimura, Erika; Toyama, Keiko; Ikawa, Masahito; Okabe, Masaru; Higuchi, Itsuro; Matsuo, Satoshi; Kawai, Yasuaki; Hisatome, Ichiro; Sugama, Takako; Holmes, Edward W.; Morisaki, Takayuki

doi:https://doi.org/10.1016/j.ymgmr.2013.12.004

Effect of isolated AMP deaminase deficiency on skeletal muscle function

Cheng, Jidong; Morisaki, Hiroko; Sugimoto, Naomi et al.

Molecular Genetics and Metabolism Reports, 2014, 1(1), 51-59

アクセス数:288件（2025-04-18 02:44 集計）

固定URL: https://hdl.handle.net/11094/78603

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タイトル	Effect of isolated AMP deaminase deficiency on skeletal muscle function
著者	NRID 1000040399605 1000040399605 著者名 Cheng, Jidong
	NRID 1000040311451 1000040311451 著者名 Morisaki, Hiroko
	著者名 Sugimoto, Naomi
	著者名 Dohi, Atsushi
	NRID 1000040762076 1000040762076 著者名 Shintani, Takuya
	著者名 Kimura, Erika
	著者名 Toyama, Keiko
	NRID 1000020304066 1000020304066 ORCID 0000-0001-9859-6217 0000-0001-9859-6217 researchmap permalink read0054910 read0054910 Scopus Author ID 16689054500 16689054500 著者名 Ikawa, Masahito
	NRID 1000030089875 1000030089875 著者名 Okabe, Masaru
	NRID 1000080183573 1000080183573 著者名 Higuchi, Itsuro
	NRID 1000040219390 1000040219390 著者名 Matsuo, Satoshi
	NRID 1000070143972 1000070143972 著者名 Kawai, Yasuaki
	NRID 1000060211504 1000060211504 著者名 Hisatome, Ichiro
	著者名 Sugama, Takako
	著者名 Holmes, Edward W.
	NRID 1000030174410 1000030174410 著者名 Morisaki, Takayuki
キーワード等	AMP deaminase
	Muscle
	Nucleotide metabolism
内容	Jidong Cheng, Hiroko Morisaki, Naomi Sugimoto, Atsushi Dohi, Takuya Shintani, Erika Kimura, Keiko Toyama, Masahito Ikawa, Masaru Okabe, Itsuro Higuchi, Satoshi Matsuo, Yasuaki Kawai, Ichiro Hisatome, Takako Sugama, Edward W. Holmes, Takayuki Morisaki, Effect of isolated AMP deaminase deficiency on skeletal muscle function, Molecular Genetics and Metabolism Reports, Volume 1, 2014, Pages 51-59, ISSN 2214-4269, https://doi.org/10.1016/j.ymgmr.2013.12.004.
抄録	Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2-3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a metabolic myopathy and/or easy fatigability while others indicate individuals with this inherited defect are completely asymptomatic. Because of confounding problems in assessing muscle symptoms and performance in human subjects with different genetic backgrounds and different environmental experiences such as prior exercise conditioning and diet, a strain of inbred mice with selective disruption of the AMPD1 was developed to study the consequences of muscle AMPD deficiency in isolation. Studies reported here demonstrate that these animals are a good metabolic phenocopy of human AMPD1 deficiency but they exhibit no abnormalities in muscle performance in three different exercise protocols.
出版者	Elsevier Inc.
収録物名	Molecular Genetics and Metabolism Reports
巻(号)	1(1)
ページ	51-59
刊行年月	2014
言語	英語
ハンドルURL	https://hdl.handle.net/11094/78603
eISSN	22144269
関連情報 (isIdenticalTo)	DOI (出版社版) https://doi.org/10.1016/j.ymgmr.2013.12.004
アクセス権	open access
権利情報	© 2013 The Authors. Published by Elsevier Inc. This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License.
出版タイプ	Version of Record
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCTERMS.bibliographicCitation	Molecular Genetics and Metabolism Reports. 2014, 1(1), p. 51-59
DC.title	Effect of isolated AMP deaminase deficiency on skeletal muscle function
DC.creator	Cheng, Jidong
	Morisaki, Hiroko
	Sugimoto, Naomi
	Dohi, Atsushi
	Shintani, Takuya
	Kimura, Erika
	Toyama, Keiko
	Ikawa, Masahito
	Okabe, Masaru
	Higuchi, Itsuro
	Matsuo, Satoshi
	Kawai, Yasuaki
	Hisatome, Ichiro
	Sugama, Takako
	Holmes, Edward W.
	Morisaki, Takayuki
DC.publisher	Elsevier Inc.
DC.language' scheme='DCTERMS.RFC1766	英語
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2014
DC.identifier	https://doi.org/10.1016/j.ymgmr.2013.12.004
DC.subject	AMP deaminase
	Muscle
	Nucleotide metabolism
DC.description	Jidong Cheng, Hiroko Morisaki, Naomi Sugimoto, Atsushi Dohi, Takuya Shintani, Erika Kimura, Keiko Toyama, Masahito Ikawa, Masaru Okabe, Itsuro Higuchi, Satoshi Matsuo, Yasuaki Kawai, Ichiro Hisatome, Takako Sugama, Edward W. Holmes, Takayuki Morisaki, Effect of isolated AMP deaminase deficiency on skeletal muscle function, Molecular Genetics and Metabolism Reports, Volume 1, 2014, Pages 51-59, ISSN 2214-4269, https://doi.org/10.1016/j.ymgmr.2013.12.004.
DCTERMS.abstract	Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2-3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a metabolic myopathy and/or easy fatigability while others indicate individuals with this inherited defect are completely asymptomatic. Because of confounding problems in assessing muscle symptoms and performance in human subjects with different genetic backgrounds and different environmental experiences such as prior exercise conditioning and diet, a strain of inbred mice with selective disruption of the AMPD1 was developed to study the consequences of muscle AMPD deficiency in isolation. Studies reported here demonstrate that these animals are a good metabolic phenocopy of human AMPD1 deficiency but they exhibit no abnormalities in muscle performance in three different exercise protocols.
DC.rights	© 2013 The Authors. Published by Elsevier Inc. This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License.
DC.format	78603
citation_title	Effect of isolated AMP deaminase deficiency on skeletal muscle function
citation_author	Cheng, Jidong
	Morisaki, Hiroko
	Sugimoto, Naomi
	Dohi, Atsushi
	Shintani, Takuya
	Kimura, Erika
	Toyama, Keiko
	Ikawa, Masahito
	Okabe, Masaru
	Higuchi, Itsuro
	Matsuo, Satoshi
	Kawai, Yasuaki
	Hisatome, Ichiro
	Sugama, Takako
	Holmes, Edward W.
	Morisaki, Takayuki
citation_publisher	Elsevier Inc.
citation_language	英語
citation_date	2014
citation_journal_title	Molecular Genetics and Metabolism Reports
citation_volume	1
citation_issue	1
citation_firstpage	51
citation_lastpage	59
citation_doi	https://doi.org/10.1016/j.ymgmr.2013.12.004
citation_public_url	https://hdl.handle.net/11094/78603

Effect of isolated AMP deaminase deficiency on skeletal muscle function

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