ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

(2014) Heidi Peters et al.   BRAIN

Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation

(2014) Olga Pougovkina et al.   HUMAN MOLECULAR GENETICS

ECHS1 interacts with STAT3 and negatively regulates STAT3 signaling

(2013) Yan Chang et al.   FEBS LETTERS

ECHS1 acts as a novel HBsAg-binding protein enhancing apoptosis through the mitochondrial pathway in HepG2 cells

(2012) Chuan-Xing Xiao et al.   CANCER LETTERS

Complexome Profiling Identifies TMEM126B as a Component of the Mitochondrial Complex I Assembly Complex

(2012) Heinrich Heide et al.   Cell Metabolism

Mitochondrial proteome design: From molecular identity to pathophysiological regulation

(2012) Jun Zhang et al.   JOURNAL OF GENERAL PHYSIOLOGY

A homozygous mutation ofC12orf65causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

(2012) Haruo Shimazaki et al.   JOURNAL OF MEDICAL GENETICS

Short-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Associates with a Protein Super-Complex Integrating Multiple Metabolic Pathways

(2012) Srinivas B. Narayan et al.   PLoS One

Evidence for Physical Association of Mitochondrial Fatty Acid Oxidation and Oxidative Phosphorylation Complexes

(2010) Yudong Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

Short-chain acyl-coenzyme A dehydrogenase deficiency

(2008) Reena Jethva et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial Fatty-Acid Oxidation Disorders

(2008) Michelle Kompare et al.   Seminars in Pediatric Neurology