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

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

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

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

(2016) Hanna Mandel et al.   JOURNAL OF MEDICAL 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

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

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

TMEM70 deficiency: long-term outcome of 48 patients

(2014) Martin Magner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

(2012) Jamie K. Teer et al.   BIOINFORMATICS

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

Tim50’s presequence receptor domain is essential for signal driven transport across the TIM23 complex

(2011) Christian Schulz et al.   JOURNAL OF CELL BIOLOGY

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

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

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY