Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects

(2011) Manuel Schiff et al.   Seminars in Fetal & Neonatal Medicine

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

(2010) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease

(2010) Giuseppe Limongelli et al.   EUROPEAN JOURNAL OF HEART FAILURE

Mitochondrial dysfunction in CD4+lymphocytes from stavudine-treated HIV patients

(2010) Lloyd Einsiedel et al.   MITOCHONDRION

Deciphering the splicing code

(2010) Yoseph Barash et al.   NATURE

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome

(2010) A. Quintana et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

(2009) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The pathophysiology of mitochondrial disease as modeled in the mouse

(2009) D. C. Wallace et al.   GENES & DEVELOPMENT

Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2

(2009) Hua Yang et al.   HUMAN MOLECULAR GENETICS

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

RETRACTED: Activation of the PPAR/PGC-1α Pathway Prevents a Bioenergetic Deficit and Effectively Improves a Mitochondrial Myopathy Phenotype

(2008) Tina Wenz et al.   Cell Metabolism

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

(2008) Shane E. Kruse et al.   Cell Metabolism

Large-scale gene trapping in C57BL/6N mouse embryonic stem cells

(2008) G. M. Hansen et al.   GENOME RESEARCH

Estradiol Stimulates Transcription of Nuclear Respiratory Factor-1 and Increases Mitochondrial Biogenesis

(2007) Kathleen A. Mattingly et al.   MOLECULAR ENDOCRINOLOGY