Metabolic biology of 3-methylglutaconic acid-uria: a new perspective

Modelling biochemical features of mitochondrial neuropathology

(2013) Matthew J. Bird et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

(2013) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

(2013) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Which way does the citric acid cycle turn during hypoxia? The critical role of α-ketoglutarate dehydrogenase complex

(2013) Christos Chinopoulos   JOURNAL OF NEUROSCIENCE RESEARCH

Simvastatin Effects on Skeletal Muscle

(2013) Steen Larsen et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

New clinical and molecular insights on Barth syndrome

(2013) Lorenzo Ferri et al.   Orphanet Journal of Rare Diseases

Barth syndrome

(2013) Sarah LN Clarke et al.   Orphanet Journal of Rare Diseases

Structure and function of biotin-dependent carboxylases

(2012) Liang Tong   CELLULAR AND MOLECULAR LIFE SCIENCES

Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome

(2012) T. Wells et al.   HUMAN MOLECULAR GENETICS

Seven functional classes of Barth syndrome mutation

(2012) Kevin Whited et al.   HUMAN MOLECULAR GENETICS

Coenzyme Q10 reverses mitochondrial dysfunction in atorvastatin-treated mice and increases exercise endurance

(2012) Ayako Muraki et al.   JOURNAL OF APPLIED PHYSIOLOGY

Cardiolipin-dependent Reconstitution of Respiratory Supercomplexes from PurifiedSaccharomyces cerevisiaeComplexes III and IV

(2012) Soledad Bazán et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome

(2012) Jean-Baptiste Roullet et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia and male genital anomalies

(2012) Tiina Ojala et al.   PEDIATRIC RESEARCH

Impaired cardiac reserve and severely diminished skeletal muscle O2 utilization mediate exercise intolerance in Barth syndrome

(2011) Carolyn T. Spencer et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway

(2011) Beatriz Puisac et al.   MOLECULAR BIOLOGY REPORTS

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

(2010) T. Honzik et al.   ARCHIVES OF DISEASE IN CHILDHOOD

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3

(2010) W. Pei et al.   DEVELOPMENT

Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome

(2010) Devrim Acehan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

(2010) Beatriz Puisac et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The 3-methylglutaconic acidurias: what’s new?

(2010) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

(2010) R. Spiegel et al.   JOURNAL OF MEDICAL GENETICS

Myocardial Fatty Acid Metabolism in Health and Disease

(2010) Gary D. Lopaschuk et al.   PHYSIOLOGICAL REVIEWS

Functional and structural properties of mammalian acyl-coenzyme A thioesterases

(2010) Brenda Kirkby et al.   PROGRESS IN LIPID RESEARCH

The mitochondrial citrate carrier: Metabolic role and regulation of its activity and expression

(2009) Gabriele V. Gnoni et al.   IUBMB LIFE

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

(2009) Eva Morava et al.   MITOCHONDRION

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

(2008) Saskia B. Wortmann et al.   BRAIN

Cardiolipin, the heart of mitochondrial metabolism

(2008) R. H. Houtkooper et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS

AU-rich RNA-binding induces changes in the quaternary structure of AUH

(2008) Kazuki Kurimoto et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS