Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron–sulfur cluster depletion in human skeletal muscle

Exercise Metabolism and the Molecular Regulation of Skeletal Muscle Adaptation

(2013) Brendan Egan et al.   Cell Metabolism

The SLC16 gene family – Structure, role and regulation in health and disease

(2013) Andrew P. Halestrap   MOLECULAR ASPECTS OF MEDICINE

Increased capillaries in mitochondrial myopathy: implications for the regulation of oxygen delivery

(2012) Tanja Taivassalo et al.   BRAIN

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

(2012) T. A. Rouault   Disease Models & Mechanisms

FGF21 regulates PGC-1  and browning of white adipose tissues in adaptive thermogenesis

(2012) f. M. Fisher et al.   GENES & DEVELOPMENT

Tissue Specificity of a Human Mitochondrial Disease

(2012) Daniel R. Crooks et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A PGC1-α-dependent myokine that drives brown-fat-like development of white fat and thermogenesis

(2012) Pontus Boström et al.   NATURE

Autophagy deficiency leads to protection from obesity and insulin resistance by inducing Fgf21 as a mitokine

(2012) Kook Hwan Kim et al.   NATURE MEDICINE

Muscles, exercise and obesity: skeletal muscle as a secretory organ

(2012) Bente K. Pedersen et al.   Nature Reviews Endocrinology

Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy

(2012) Julie L. Murphy et al.   NEUROMUSCULAR DISORDERS

Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

(2011) Jessie M. Cameron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An acute bout of high-intensity interval training increases the nuclear abundance of PGC-1α and activates mitochondrial biogenesis in human skeletal muscle

(2011) Jonathan P. Little et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice

(2011) Shuichi Yatsuga et al.   HUMAN MOLECULAR GENETICS

Human HMGCS2 Regulates Mitochondrial Fatty Acid Oxidation andFGF21Expression in HepG2 Cell Line

(2011) Anna Vilà-Brau et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy

(2011) Gittan Kollberg et al.   NEUROMUSCULAR DISORDERS

Fiber Types in Mammalian Skeletal Muscles

(2011) Stefano Schiaffino et al.   PHYSIOLOGICAL REVIEWS

HEREDITARY ABNORMAL MUSCLE METABOLISM WITH HYPERKINETIC CIRCULATION DURING EXERCISE

(2010) H. Linderholm et al.   ACTA MEDICA SCANDINAVICA

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy

(2010) Petter S. Sanaker et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The Secret Life of NAD+: An Old Metabolite Controlling New Metabolic Signaling Pathways

(2010) Riekelt H. Houtkooper et al.   ENDOCRINE REVIEWS

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice

(2010) Angelica Nordin et al.   HUMAN GENETICS

Mitochondrial myopathy induces a starvation-like response

(2010) Henna Tyynismaa et al.   HUMAN MOLECULAR GENETICS

Regulation of exercise-induced fiber type transformation, mitochondrial biogenesis, and angiogenesis in skeletal muscle

(2010) Zhen Yan et al.   JOURNAL OF APPLIED PHYSIOLOGY

Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts

(2010) Hong Ye et al.   JOURNAL OF CLINICAL INVESTIGATION

PGC-1  regulates a HIF2 -dependent switch in skeletal muscle fiber types

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

Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery

(2009) D. R. Crooks et al.   BLOOD

Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy

(2009) Gittan Kollberg et al.   BRAIN

Two novel/ancient myosins in mammalian skeletal muscles: MYH14/7b and MYH15 are expressed in extraocular muscles and muscle spindles

(2009) Alberto C. Rossi et al.   JOURNAL OF PHYSIOLOGY-LONDON

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

(2008) Fanny Mochel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

(2008) A. Olsson et al.   HUMAN MOLECULAR GENETICS