Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

(2012) F. Lamari et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondria-associated ER membranes in Alzheimer disease

(2012) Eric A. Schon et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

Defects in mitochondrial DNA replication and human disease

(2011) William C. Copeland   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Disorders of bile acid synthesis

(2011) Peter Theodore Clayton   JOURNAL OF INHERITED METABOLIC DISEASE

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

(2011) J. Uusimaa et al.   JOURNAL OF MEDICAL GENETICS

Nonesterified cholesterol content of lysosomes modulates susceptibility to oxidant-induced permeabilization

(2010) John J. Reiners et al.   FREE RADICAL BIOLOGY AND MEDICINE

The 3-methylglutaconic acidurias: what’s new?

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

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

(2010) Ulrike Schara 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

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

(2009) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

(2009) R. Horvath et al.   BRAIN

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNAVal causing MNGIE-like gastrointestinal dysmotility and cachexia

(2009) Rita Horváth et al.   JOURNAL OF NEUROLOGY

Recommendations on the diagnosis and management of Niemann-Pick disease type C

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

163rd ENMC International Workshop: Nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12–14 December 2008, Naarden, The Netherlands

(2009) Joanna Poulton et al.   NEUROMUSCULAR DISORDERS

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

(2008) A. Gotz et al.   BRAIN

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

(2008) Saskia B. Wortmann et al.   BRAIN

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone

(2008) Stefania Zampieri et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS