The 3-methylglutaconic acidurias: what’s new?

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

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

Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation

(2010) Seung-Wook Ryu et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

(2010) W. Pei et al.   DEVELOPMENT

3-METHYLGLUTACONIC ACIDURIA IN THE IRAQI-JEWISH “OPTIC ATROPHY PLUS‘ (COSTEFF) SYNDROME

(2010) Orly N. Elpeleg et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1   subunit

(2010) J. A. Mayr et al.   HUMAN MOLECULAR GENETICS

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

(2010) Marjan Huizing et al.   MOLECULAR GENETICS AND METABOLISM

The enigmatic role of tafazzin in cardiolipin metabolism

(2009) Riekelt H. Houtkooper et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Dysmorphology of Barth syndrome

(2009) Rob Hastings et al.   CLINICAL DYSMORPHOLOGY

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2009) Wen-Chen Liang et al.   NEUROMUSCULAR DISORDERS

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

Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats

(2008) Guilhian Leipnitz et al.   LIFE SCIENCES

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS