Mitochondrial disorders as windows into an ancient organelle

Role of Mitochondrial Ca2+ in the Regulation of Cellular Energetics

(2012) Brian Glancy et al.   BIOCHEMISTRY

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

(2012) Daniel S Lieber et al.   BMC Medical Genetics

Supersizing the Mitochondrial Respiratory Chain

(2012) Eric A. Shoubridge   Cell Metabolism

Mitochondrial quality control: a matter of life and death for neurons

(2012) Elena I Rugarli et al.   EMBO JOURNAL

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

(2012) Valeria Vasta et al.   PEDIATRICS INTERNATIONAL

Metabolite Profiling Identifies a Key Role for Glycine in Rapid Cancer Cell Proliferation

(2012) M. Jain et al.   SCIENCE

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Cytochrome c oxidase: Evolution of control via nuclear subunit addition

(2011) Denis Pierron et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

A mitochondrial-focused genetic interaction map reveals a scaffold-like complex required for inner membrane organization in mitochondria

(2011) Suzanne Hoppins et al.   JOURNAL OF CELL BIOLOGY

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

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

Why are there no proven therapies for genetic mitochondrial diseases?

(2011) Peter W. Stacpoole   MITOCHONDRION

Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter

(2011) Joshua M. Baughman et al.   NATURE

A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter

(2011) Diego De Stefani et al.   NATURE

The Mitochondrial Proteome and Human Disease

(2010) Sarah E. Calvo et al.   Annual Review of Genomics and Human Genetics

Compartmentalization of Mammalian Folate-Mediated One-Carbon Metabolism

(2010) Anne S. Tibbetts et al.   Annual Review of Nutrition

Metabolic control of mitochondrial biogenesis through the PGC-1 family regulatory network

(2010) Richard C. Scarpulla   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

(2010) Jessica Nouws et al.   Cell Metabolism

The mitochondrial UPR - protecting organelle protein homeostasis

(2010) C. M. Haynes et al.   JOURNAL OF CELL SCIENCE

MICU1 encodes a mitochondrial EF hand protein required for Ca2+ uptake

(2010) Fabiana Perocchi et al.   NATURE

The architecture of respiratory complex I

(2010) Rouslan G. Efremov et al.   NATURE

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

(2010) Carlo Viscomi et al.   NATURE MEDICINE

Mechanisms of mitophagy

(2010) Richard J. Youle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells

(2010) O. Shaham et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mosaic origin of the mitochondrial proteome

(2010) Radek Szklarczyk et al.   PROTEOMICS

Functional Modules and Structural Basis of Conformational Coupling in Mitochondrial Complex I

(2010) C. Hunte et al.   SCIENCE

Metabolic Modulation of Glioblastoma with Dichloroacetate

(2010) E. D. Michelakis et al.   Science Translational Medicine

Gene–environment interactions in Leber hereditary optic neuropathy

(2009) Matthew Anthony Kirkman et al.   BRAIN

Discovery of Genes Essential for Heme Biosynthesis through Large-Scale Gene Expression Analysis

(2009) Roland Nilsson et al.   Cell Metabolism

Extension of Drosophila Life Span by RNAi of the Mitochondrial Respiratory Chain

(2009) Jeffrey M. Copeland et al.   CURRENT BIOLOGY

Prevalence of Mitochondrial 1555A→G Mutation in European Children

(2009) Maria Bitner-Glindzicz et al.   NEW ENGLAND JOURNAL OF MEDICINE

An ER-Mitochondria Tethering Complex Revealed by a Synthetic Biology Screen

(2009) Benoît Kornmann et al.   SCIENCE

Control of mitochondrial transport and localization in neurons

(2009) Andrew F. MacAskill et al.   TRENDS IN CELL BIOLOGY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Distinct mitochondrial retrograde signals control the G1-S cell cycle checkpoint

(2008) Edward Owusu-Ansah et al.   NATURE GENETICS

Aminoacyl tRNA synthetases and their connections to disease

(2008) S. G. Park et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Approaches to Finding the Molecular Basis of Mitochondrial Oxidative Phosphorylation Disorders

(2008) Denise M. Kirby et al.   Twin Research and Human Genetics