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

Number of Access:1,140（2025-07-16 20:49 Counts）

Identifier to cite or link to this item: https://hdl.handle.net/11094/78603

Link to primary information

File	Format	Terms of use	Size	Views	Date.Available	Description	information
MolGenetMetabRep_01_01_051	pdf	None	496 KB	146	2021.02.08

Creative Commons : Attribution - NonCommercial - ShareAlike

Item Information

Output File Export EndNote Basic Export Mendeley

Title	Effect of isolated AMP deaminase deficiency on skeletal muscle function
Creator	NRID 1000040399605 1000040399605 CreatorName Cheng, Jidong
	NRID 1000040311451 1000040311451 CreatorName Morisaki, Hiroko
	CreatorName Sugimoto, Naomi
	CreatorName Dohi, Atsushi
	NRID 1000040762076 1000040762076 CreatorName Shintani, Takuya
	CreatorName Kimura, Erika
	CreatorName Toyama, Keiko
	NRID 1000020304066 1000020304066 ORCID 0000-0001-9859-6217 0000-0001-9859-6217 researchmap permalink read0054910 read0054910 Scopus Author ID 16689054500 16689054500 CreatorName Ikawa, Masahito
	NRID 1000030089875 1000030089875 CreatorName Okabe, Masaru
	NRID 1000080183573 1000080183573 CreatorName Higuchi, Itsuro
	NRID 1000040219390 1000040219390 CreatorName Matsuo, Satoshi
	NRID 1000070143972 1000070143972 CreatorName Kawai, Yasuaki
	NRID 1000060211504 1000060211504 CreatorName Hisatome, Ichiro
	CreatorName Sugama, Takako
	CreatorName Holmes, Edward W.
	NRID 1000030174410 1000030174410 CreatorName Morisaki, Takayuki
Subject	AMP deaminase
	Muscle
	Nucleotide metabolism
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.
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.
Publisher	Elsevier Inc.
Source Title	Molecular Genetics and Metabolism Reports
Volume (Issue)	1(1)
Page	51-59
Date of Issued	2014
Language	English
Handle URL	https://hdl.handle.net/11094/78603
eISSN	22144269
Relation.isIdenticalTo	DOI (Publisher Version) https://doi.org/10.1016/j.ymgmr.2013.12.004
Access Rights	open access
CopyRight	© 2013 The Authors. Published by Elsevier Inc. This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License.
oaire:version	Version of Record
Category	学術雑誌論文 Journal Article

Resource Type	journal article
Local Type	Journal Article
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	English
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	English
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

Link to primary information

Item Information

Show details