Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

Biallelic Mutations in ATP5F1D , which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

(2018) Monika Oláhová et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions

(2018) Aurelio Reyes et al.   EMBO Molecular Medicine

Translocase of Inner Membrane 50 Functions as a Novel Protective Regulator of Pathological Cardiac Hypertrophy

(2017) Kai Tang et al.   Journal of the American Heart Association

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated withTIMM50mutations

(2016) M.A. Shahrour et al.   CLINICAL GENETICS

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit

(2016) Avraham Zeharia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Two distinct membrane potential–dependent steps drive mitochondrial matrix protein translocation

(2016) Alexander Benjamin Schendzielorz et al.   JOURNAL OF CELL BIOLOGY

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

(2016) Monika Oláhová et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

(2016) Hanna Mandel et al.   JOURNAL OF MEDICAL GENETICS

Role of Tim17 Transmembrane Regions in Regulating the Architecture of Presequence Translocase and Mitochondrial DNA Stability

(2016) Srujan Kumar Matta et al.   MOLECULAR AND CELLULAR BIOLOGY

Mitochondrial Cristae: Where Beauty Meets Functionality

(2016) Sara Cogliati et al.   TRENDS IN BIOCHEMICAL SCIENCES

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

(2015) Carol Saunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

(2015) Saskia B. Wortmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation

(2015) Marta Kanabus et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disruption ofCLPBis associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

(2015) José-Mario Capo-Chichi et al.   JOURNAL OF MEDICAL GENETICS

DNAJC19, a Mitochondrial Cochaperone Associated with Cardiomyopathy, Forms a Complex with Prohibitins to Regulate Cardiolipin Remodeling

(2014) Ricarda Richter-Dennerlein et al.   Cell Metabolism

Mitochondria: from cell death executioners to regulators of cell differentiation

(2014) Atsuko Kasahara et al.   TRENDS IN CELL BIOLOGY

Advances in the understanding of Barth syndrome

(2013) Andranik A. Aprikyan et al.   BRITISH JOURNAL OF HAEMATOLOGY

Next-generation sequencing for mitochondrial disorders

(2013) C J Carroll et al.   BRITISH JOURNAL OF PHARMACOLOGY

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

A novel heterozygousOPA3mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network

(2013) Tanja Grau et al.   JOURNAL OF MEDICAL GENETICS

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

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

Haematological features in Barth syndrome

(2012) Josef Finsterer et al.   CURRENT OPINION IN HEMATOLOGY

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

(2012) Mohammed A. Aldahmesh et al.   HUMAN MUTATION

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

The GEM mapper: fast, accurate and versatile alignment by filtration

(2012) Santiago Marco-Sola et al.   NATURE METHODS

Fast Computation and Applications of Genome Mappability

(2012) Thomas Derrien et al.   PLoS One

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

(2011) Aleix Navarro-Sastre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial ATP synthase: architecture, function and pathology

(2011) An I. Jonckheere et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

(2011) An I. Jonckheere et al.   MITOCHONDRION

Mitochondrial protein import: from transport pathways to an integrated network

(2011) Thomas Becker et al.   TRENDS IN BIOCHEMICAL SCIENCES

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

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

(2010) Jessie M. Cameron et al.   MITOCHONDRION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The role of cardiolipin in the structural organization of mitochondrial membranes

(2009) Michael Schlame et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

The enigmatic role of tafazzin in cardiolipin metabolism

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Tim23–Tim50 pair coordinates functions of translocators and motor proteins in mitochondrial protein import

(2009) Yasushi Tamura et al.   JOURNAL OF CELL BIOLOGY

Role of Tim50 in the Transfer of Precursor Proteins from the Outer to the Inner Membrane of Mitochondria

(2009) Dejana Mokranjac et al.   MOLECULAR BIOLOGY OF THE CELL

BFAST: An Alignment Tool for Large Scale Genome Resequencing

(2009) Nils Homer et al.   PLoS One

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS