作者：Keiichi Hara^a ; ^b ; ; Go Tajima^b ; ^{isleofmaple@me.com" class="auth_mail" title="E-mail the corresponding author} ; Satoshi Okada^b ; Miyuki Tsumura^b ; Reiko Kagawa^b ; Kenichiro Shirao^c ; Yoshinori Ohno^d ; Shin'ichiro Yasunaga^e ; Motoaki Ohtsubo^f ; Ikue Hata^g ; Nobuo Sakura^h ; Yosuke Shigematsuⁱ ; Yoshihiro Takihara^d ; ^{takihara@hiroshima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Masao Kobayashi^b

关键词：MCAD deficiency ; Japanese ; Newborn screening ; Novel mutation ; Allele-specific expression ; Enzyme activity

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Kristi Bentler^a ; Shaohui Zhai^b ; Sara A. Elsbecker^c ; Georgianne L. Arnold^d ; Barbara K. Burton^e ; Jerry Vockley^d ; Cynthia A. Cameron^b ; Sally J. Hiner^b ; Mathew J. Edick^b ; Susan A. Berry^c ; ¹ ; ² ; ^{berry002@umn.edu" class="auth_mail" title="E-mail the corresponding author} ; On behalf of the Inborn Errors of Metabolism CollaborativeJanet Thomas^g ; Melinda Dodge^g ; Rani Singh^h ; Sangeetha Lakshman^h ; Katie Coakley^h ; Adrya Stembridge^h ; Alvaro Serrano Russiⁱ ; Emily Phillipsⁱ ; Barbara Burton^j ; Clare Edano^j ; Sheela Shrestha^j ; George Hoganson ; Lauren Dwyer^k ; Bryan Hainline^l ; Susan Romie^l ; Sarah Hainline^l ; Alexander Asamoah^m ; Kara Goodin^m ; Cecilia Rajakaruna^m ; Kelly Jackson^m ; Ada Hamoshⁿ ; Hilary Vernonⁿ ; Nancy Smithⁿ ; Ayesha Ahmad^o ; Sue Lipinski^o ; Gerald Feldman^p ; Susan Berry^q ; Sara Elsbecker^q ; Kristi Bentler^r ; Esperanza Font-Montgomery^s ; Dawn Peck^s ; Loren D.M. Pena^t ; Dwight D. Koeberl^t ; Yong-hui Jiang^t ; Priya S. Kishnani^t ; William Rizzo^u ; Machelle Dawson^u ; Nancy Ambrose^u ; Paul Levy^v ; David Kronn^w ; Chin-to Fong^x ; Kristin D&rsquo ; Aco^x ; Theresa Hart^x ; Richard Erbe^y ; Melissa Samons^y ; Nancy Leslie^z ; Racheal Powers^z ; Dennis Bartholomew^aa ; Melanie Goff^aa ; Sandy vanCalcar^ab ; Joyanna Hansen^ab ; Georgianne Arnold^ac ; Jerry Vockley^ac ; Cate Walsh-Vockley^ad ; William Rhead^ad ; David Dimmock^ad ; Paula Engelking^ad ; Cassie Bird^ad ; Ashley Swan^ad ; Jessica Scott Schwoerer^ae ; Sonja Henry^ae ; TaraChandra Narumanchi^af ; Marybeth Hummel^af ; Jennie Wilkins^af ; Laura Davis-Keppen^ag ; Quinn Stein^ag ; Rebecca Loman^ag ; Cynthia Cameron^ah ; Mathew J. Edick^ah ; Sally J. Hiner^ah ; Kaitlin Justice^ah ; Shaohui Zhai^ah

关键词：Medium-chain acyl-coenzyme A dehydrogenase deficiency ; MCAD ; Octanoylcarnitine ; ACADM ; Newborn screening ; Inborn error of metabolism

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Yiqian Chen ; Margaret G. Gall ; Hui Zhang ; Fiona M. Keane ; Geoffrey W. McCaughan ; Denise M.T. Yu¹ ; Mark D. Gorrell ; ^{m.gorrell@centenary.usyd.edu.au" class="auth_mail" title="E-mail the corresponding author}

关键词：ACADM ; medium chain acyl-CoA dehydrogenase ; ACADVL ; very long chain acyl-CoA dehydrogenase ; ACC ; acetyl-coenzyme A carboxylase alpha ; ACSL1 ; acyl-CoA synthetase long-chain family member 1 ; ADIPOR2 ; adiponectin receptor 2 ; Akt ; protein kinase B ; AK2 ; Adenylate kinase 2 ; AMPK ; AMP-activated protein kinase ; CE ; cytoplasmic extract ; ChREBP ; carbohydrate regulatory element binding protein ; CPT-1a ; carnitine palmitoyltransferase 1a ; CXCL10 ; C-X-C motif chemokine 10 ; DGAT1 ; diacylglycerol acyltransfera

刊名：Experimental Cell Research

出版年：2016

作者：Dachuan Dong^a ; Liangyuan Li^a ; Pengyu Gu^b ; Tao Jin^a ; Mingda Wen^a ; Caihua Yuan^a ; Xiang Gao^b ; Chang Liu^a ; Zhao Zhang^a ; ^{zhangzhao@njnu.edu.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：ACADM ; acyl‐coenzyme A dehydrogenase ; middle chain (C4&ndash ; C12) ; ACADS ; acyl‐coenzyme A dehydrogenase ; short chain (C4&ndash ; C8) ; ACADVL ; acyl‐coenzyme A dehydrogenase ; very long chain ; ACSL1 ; acyl‐CoA synthetase long‐chain family member 1 ; ANP ; atrial natriuretic peptide ; BNP ; brain natriuretic peptide ; CD36 ; fatty acid translocase ; CPT ; carnitine palmitoyltransferase ; CS ; citrate synthase ; EF ; ejection fraction ; FABP ; fatty acid binding protein ; FS ; fractional shortening ; GLUT ; solute carrie

刊名：FEBS Letters

出版年：2015

作者：Weibin Wu^a ; ¹ ; Xijun Liu^a ; ¹ ; Xiaomin Peng^a ; Ruyi Xue^b ; Lingling Ji^a ; Xizhong Shen^b ; She Chen^a ; ^{shechen@fudan.edu.cn" class="auth_mail} ; Jianxin Gu^a ; Si Zhang^a ; ^{zhangsi@fudan.edu.cn" class="auth_mail}

关键词：ACAA1a ; acetyl-CoA acyltransferase 1 ; ACADM ; acyl-coenzyme A dehydrogenase ; ACC1 ; acetyl-CoA carboxylase 1 ; Acox1 ; acyl-CoA oxidase 1 ; ALT ; alanine aminotransferase ; AST ; aspartate aminotransferase ; BAs ; bile acids ; BSEP ; bile salt export pump ; CDCA ; chenodeoxycholic acid ; CPT1a ; carnitine palmitoyltransferase 1a ; CYP7A1 ; cholesterol 7伪-hydroxylase ; CYP8B1 ; sterol 12伪-hydroxylase ; DGAT ; diacylglycerol acyltransferases ; FABP1 ; fatty acid binding protein 1 ; FABP4 ; fatty acid binding protein 4 ; FAS

刊名：Biochemical and Biophysical Research Communications

出版年：23 May 2014

作者：Andrea M. Cordero-Reyes^a ; ¹ ; Anisha A. Gupte^b ; ¹ ; Keith A. Youker^a ; Matthias Loebe^a ; Willa A. Hsueh^c ; ^d ; Guillermo Torre-Amione^a ; ^e ; Heinrich Taegtmeyer^f ; Dale J. Hamilton^b ; ^d ; ^{DJHamilton@houstonmethodist.org" class="auth_mail}

关键词：ACADl ; acyl-CoA dehydrogenase ; long chain ; ACADm ; acyl-CoA dehydrogenase ; medium chain ; ACADvl ; acyl-CoA dehydrogenase ; very long chain ; AMPK ; 5&prime ; AMP-activated protein kinase ; CD36 ; cluster of differentiation 36 ; CPT2 ; carnitine palmitoyltransferase II ; ETC ; electron transport chain ; FAD + ; flavin adenine dinucleotide ; FCCP ; carbonyl cyanide 4-(trifluoromethoxy)phenylhydrazone ; GLUT1 ; glucose transporter 1 ; GLUT4 ; glucose transporter 4 ; GM ; glutamate&ndash ; malate ; HADHA ; 3-hydroxyacyl

刊名：Journal of Molecular and Cellular Cardiology

出版年：March, 2014

作者：Gitte Hoffmann Bruun ; Thomas Koed Doktor ; Brage Storstein Andresen

关键词：MCAD ; Fatty acid oxidation ; Exonic splicing enhancer ; mRNA splicing ; Serum metabolite concentrations ; Functional SNP

刊名：Molecular Genetics and Metabolism

出版年：2013

作者：Silvia Ribback¹ ; ^{silvia.ribback@uni-greifswald.de} ; Diego F. Calvisi¹ ; Antonio Cigliano¹ ; Verena Sailer¹ ; ^&dagger ; ; Michele Peters¹ ; Jenny Rausch¹ ; Claus-Dieter Heidecke² ; Matthias Birth³ ; Frank Dombrowski¹

关键词：ACAC ; acetyl-coenzyme A carboxylase ; ACADM ; acyl-CoA dehydrogenase for acyl chains of medium length ; ACLY ; ATP citrate lyase ; AKR1B10 ; aldo-keto reductase family 1 ; member B10 ; AKT ; v-akt murine thymoma viral oncogene homolog ; AMPK ; AMP-activated kinase

刊名：Journal of Hepatology

出版年：2013

作者：Yuki Nakamura ; Takahiro Sato ; Yuki Shiimura ; Yoshiki Miura ; Masayasu Kojima

关键词：WAT ; white adipose tissue ; BAT ; brown adipose tissue ; UCP1 ; uncoupling protein 1 ; WA ; white adipocyte ; BA ; brown adipocyte ; FAO ; fatty acid oxidation ; FABP3 ; fatty acid binding protein3/heart-type fatty acid binding protein ; Acyl-CoA ; acyl-Coenzyme A ; ACSS1 ; acyl-CoA synthetase short-chain family member 1 ; ACSL5 ; acyl-CoA synthetase long-chain family member 5 ; CPT1b ; carnitine palmitoyltransferase 1b ; ACADL ; long-chain acyl-Coenzyme A dehydrogenase ; ACADM ; medium-chain acyl-Coenzyme A dehydrogen

刊名：Biochemical and Biophysical Research Communications

出版年：8 November, 2013

作者：Catherine I. Real ; Dominik A. Megger ; Barbara Sitek ; Kerstin Jahn-Hofmann ; Ludger M. Ickenstein ; Matthias J. John ; Andreas Walker ; Joerg Timm ; Katja Kuhlmann ; Martin Eisenacher ; Helmut E. Meyer ; Guido Gerken ; Ruth Broering ; Joerg F. Schlaak

关键词：Acadm ; acyl-coenzyme A dehydrogenase medium chain ; HCV ; hepatitis C virus ; Herc5 ; HECT and RLD domain containing E3 ubiquitin protein ligase 5 ; HnrnpA3 ; heterogeneous nuclear ribonucleoprotein A3 ; HnrnpK ; heterogeneous nuclear ribonucleoprotein K ; Hmgcs1 ; hydroxymethylglutaryl-CoA synthase ; Ifn ; interferon ; Ifit3 ; interferon-induced protein with tetratricopeptide repeats 3 ; Ifitm3 ; interferon induced transmembrane protein 3 ; Isg15 ; interferon stimulated gene 15 ; Idh1 ; isocitrate dehydrogenase cy

刊名：Antiviral Research

出版年：December, 2013