Monogenic Mitochondrial Disorders

被引：369

作者：

Koopman, Werner J. H. ^{[2
]}

Willems, Peter H. G. M. ^{[2
]}

Smeitink, Jan A. M. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders, NL-6500 HB Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Med Ctr, Dept Biochem, Nijmegen Ctr Mol Life Sci, NL-6500 HB Nijmegen, Netherlands

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2012年 / 366卷 / 12期

关键词：

UBIQUINONE OXIDOREDUCTASE DEFICIENCY; COMPLEX-I DEFICIENCY; MOUSE MODELS; HUMAN NADH; DYSFUNCTION; DISEASE; APOPTOSIS; MECHANISMS; MICE; CYCLOSPORINE;

D O I：

10.1056/NEJMra1012478

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：1132 / 1141

页数：10

共 86 条

[61]

Skulachev MV, 2011, CURR DRUG TARGETS, V12, P800

[62] Mitochondrial dysfunction in patients with primary congenital insulin resistance [J].

Sleigh, Alison ;

Raymond-Barker, Philippa ;

Thackray, Kerrie ;

Porter, David ;

Hatunic, Mensud ;

Vottero, Alessandra ;

Burren, Christine ;

Mitchell, Catherine ;

McIntyre, Martin ;

Brage, Soren ;

Carpenter, T. Adrian ;

Murgatroyd, Peter R. ;

Brindle, Kevin M. ;

Kemp, Graham J. ;

O'Rahilly, Stephen ;

Semple, Robert K. ;

Savage, David B. .

JOURNAL OF CLINICAL INVESTIGATION, 2011, 121 (06) :2457-2461

[63] The genetics and pathology of oxidative phosphorylation [J].

Smeitink, J ;

van den Heuvel, L ;

DiMauro, S .

NATURE REVIEWS GENETICS, 2001, 2 (05) :342-352

[64] Mitochondria-Targeted Small Molecule Therapeutics and Probes [J].

Smith, Robin A. J. ;

Hartley, Richard C. ;

Murphy, Michael P. .

ANTIOXIDANTS & REDOX SIGNALING, 2011, 15 (12) :3021-3038

[65] Measuring and Modeling Apoptosis in Single Cells [J].

Spencer, Sabrina L. ;

Sorger, Peter K. .

CELL, 2011, 144 (06) :926-939

[66] Why are there no proven therapies for genetic mitochondrial diseases? [J].

Stacpoole, Peter W. .

MITOCHONDRION, 2011, 11 (05) :679-685

[67] Human metabolic individuality in biomedical and pharmaceutical research [J].

Suhre, Karsten ;

Shin, So-Youn ;

Petersen, Ann-Kristin ;

Mohney, Robert P. ;

Meredith, David ;

Waegele, Brigitte ;

Altmaier, Elisabeth ;

Deloukas, Panos ;

Erdmann, Jeanette ;

Grundberg, Elin ;

Hammond, Christopher J. ;

Hrabe de Angelis, Martin ;

Kastenmueller, Gabi ;

Koettgen, Anna ;

Kronenberg, Florian ;

Mangino, Massimo ;

Meisinger, Christa ;

Meitinger, Thomas ;

Mewes, Hans-Werner ;

Milburn, Michael V. ;

Prehn, Cornelia ;

Raffler, Johannes ;

Ried, Janina S. ;

Roemisch-Margl, Werner ;

Samani, Nilesh J. ;

Small, Kerrin S. ;

Wichmann, H. -Erich ;

Zhai, Guangju ;

Illig, Thomas ;

Spector, Tim D. ;

Adamski, Jerzy ;

Soranzo, Nicole ;

Gieger, Christian .

NATURE, 2011, 477 (7362) :54-U60

[68]

Swerdlow RH, 2011, ANTIOXID REDOX 0525

[69] Mitochondrial Medicine and the Neurodegenerative Mitochondriopathies [J].

Swerdlow, Russell H. .

PHARMACEUTICALS, 2009, 2 (03) :150-167

[70] Cellular bioenergetics as a target for obesity therapy [J].

Tseng, Yu-Hua ;

Cypess, Aaron M. ;

Kahn, C. Ronald .

NATURE REVIEWS DRUG DISCOVERY, 2010, 9 (06) :465-481

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