The Mitochondrial Proteome and Human Disease

Pathogenic mutations of nuclear genes associated with mitochondrial disorders

(2009) X. Zhu et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Super-Resolution Fluorescence Microscopy

(2009) Bo Huang et al.   Annual Review of Biochemistry

Evolution of mitochondrial protein biogenesis

(2009) Stephan Kutik et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Mitochondrial proteome evolution and genetic disease

(2009) Martijn A. Huynen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Importing Mitochondrial Proteins: Machineries and Mechanisms

(2009) Agnieszka Chacinska et al.   CELL

Proteome Differences between Brown and White Fat Mitochondria Reveal Specialized Metabolic Functions

(2009) Francesca Forner et al.   Cell Metabolism

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

(2009) Roland Nilsson et al.   Cell Metabolism

Use of32P To Study Dynamics of the Mitochondrial Phosphoproteome

(2009) Angel M. Aponte et al.   JOURNAL OF PROTEOME RESEARCH

Quantitative Mitochondrial Phosphoproteomics Using iTRAQ on an LTQ-Orbitrap with High Energy Collision Dissociation

(2009) Emily S. Boja et al.   JOURNAL OF PROTEOME RESEARCH

MitoMiner, an Integrated Database for the Storage and Analysis of Mitochondrial Proteomics Data

(2009) Anthony C. Smith et al.   MOLECULAR & CELLULAR PROTEOMICS

Identification of the Signal Directing Tim9 and Tim10 into the Intermembrane Space of Mitochondria

(2009) Dusanka Milenkovic et al.   MOLECULAR BIOLOGY OF THE CELL

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2009) Lenny Dang et al.   NATURE

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

(2009) Woranontee Weraarpachai et al.   NATURE GENETICS

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

(2009) Valeria Tiranti et al.   NATURE MEDICINE

MIA40 is an oxidoreductase that catalyzes oxidative protein folding in mitochondria

(2009) Lucia Banci et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

IDH1andIDH2Mutations in Gliomas

(2009) Hai Yan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress

(2009) Johan Palmfeldt et al.   Proteome Science

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

(2009) Benoît Kornmann et al.   SCIENCE

Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes

(2009) Curt Scharfe et al.   PLoS Computational Biology

A Computational Screen for Regulators of Oxidative Phosphorylation Implicates SLIRP in Mitochondrial RNA Homeostasis

(2009) Joshua M. Baughman et al.   PLoS Genetics

Analysis of the IDH1 codon 132 mutation in brain tumors

(2008) Jörg Balss et al.   ACTA NEUROPATHOLOGICA

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

(2008) Canny Sugiana et al.   AMERICAN JOURNAL OF HUMAN GENETICS

20 years of human mtDNA pathologic point mutations: Carefully reading the pathogenicity criteria

(2008) Julio Montoya et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Mitochondrial Fatty Acid Synthesis Type II: More than Just Fatty Acids

(2008) J. Kalervo Hiltunen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Metabolism as a complex genetic trait, a systems biology approach: Implications for inborn errors of metabolism and clinical diseases

(2008) Jerry Vockley   JOURNAL OF INHERITED METABOLIC DISEASE

Inherited mitochondrial optic neuropathies

(2008) P Yu-Wai-Man et al.   JOURNAL OF MEDICAL GENETICS

Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review

(2008) Mahdi Aghili et al.   JOURNAL OF NEURO-ONCOLOGY

MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome

(2008) Matthias Elstner et al.   MOLECULAR BIOTECHNOLOGY

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS

STRING 8--a global view on proteins and their functional interactions in 630 organisms

(2008) L. J. Jensen et al.   NUCLEIC ACIDS RESEARCH

Transcriptional responses to intermittent hypoxia

(2008) Jayasri Nanduri et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Post-translational modification of proteins during intermittent hypoxia

(2008) Ganesh K. Kumar et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Approaches to Finding the Molecular Basis of Mitochondrial Oxidative Phosphorylation Disorders

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