Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

(2011) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

(2010) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Natural antisense transcripts regulate gene expression in an epigenetic manner

(2010) Wen-Yu Su et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Missing pieces in the Parkinson's disease puzzle

(2010) Jose A Obeso et al.   NATURE MEDICINE

100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future

(2010) Hugo J. Bellen et al.   NATURE REVIEWS NEUROSCIENCE

Matrix Metalloproteinases Are Modifiers of Huntingtin Proteolysis and Toxicity in Huntington's Disease

(2010) John P. Miller et al.   NEURON

Identification of cis-Regulatory Elements in the Mammalian Genome: The cREMaG Database

(2010) Marcin Piechota et al.   PLoS One

Formulation of a Medical Food Cocktail for Alzheimer's Disease: Beneficial Effects on Cognition and Neuropathology in a Mouse Model of the Disease

(2010) Anna Parachikova et al.   PLoS One

Mitochondrial reactive oxygen species regulate cellular signaling and dictate biological outcomes

(2010) Robert B. Hamanaka et al.   TRENDS IN BIOCHEMICAL SCIENCES

Redox Control of the Cell Cycle in Health and Disease

(2009) Ehab H. Sarsour et al.   ANTIOXIDANTS & REDOX SIGNALING

Disorders of mitochondrial function

(2009) François-Guillaume Debray et al.   CURRENT OPINION IN PEDIATRICS

CpG islands - ‘A rough guide’

(2009) Robert S. Illingworth et al.   FEBS LETTERS

Fork Stalling and Template Switching As a Mechanism for Polyalanine Tract Expansion Affecting the DYC Mutant of HOXD13, a New Murine Model of Synpolydactyly

(2009) O. Cocquempot et al.   GENETICS

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

(2009) Marwan K Tayeh et al.   GENETICS IN MEDICINE

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1

(2009) Scot C. Leary et al.   HUMAN MOLECULAR GENETICS

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application toMLH1germline mutations in Lynch syndrome

(2009) Etienne Rouleau et al.   HUMAN MUTATION

The PINK1/Parkin pathway: a mitochondrial quality control system?

(2009) Alexander J. Whitworth et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Demonstrated and inferred metabolism associated with cytosolic lipid droplets: TABLE 1.

(2009) Joel M. Goodman   JOURNAL OF LIPID RESEARCH

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

(2009) P. Isohanni et al.   JOURNAL OF MEDICAL GENETICS

Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy

(2009) B. Bortot et al.   MITOCHONDRION

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

CpG_MI: a novel approach for identifying functional CpG islands in mammalian genomes

(2009) Jianzhong Su et al.   NUCLEIC ACIDS RESEARCH

Oxygen Toxicity and Reactive Oxygen Species: The Devil Is in the Details

(2009) Richard L Auten et al.   PEDIATRIC RESEARCH

Mutation Detection by Real-Time PCR: A Simple, Robust and Highly Selective Method

(2009) John Morlan et al.   PLoS One

Subcomplex Iλ Specifically Controls Integrated Mitochondrial Functions in Caenorhabditis elegans

(2009) Marni J. Falk et al.   PLoS One

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

(2008) Itai Berger et al.   ANNALS OF NEUROLOGY

The Amyotrophic Lateral Sclerosis 8 Protein VAPB Is Cleaved, Secreted, and Acts as a Ligand for Eph Receptors

(2008) Hiroshi Tsuda et al.   CELL

Mitochondria as Chi: Figure 1.—

(2008) Douglas C. Wallace   GENETICS

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

(2008) Yoann Saillour et al.   HUMAN MUTATION

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

(2008) J Yan et al.   JOURNAL OF MEDICAL GENETICS

The Expression of Heat Shock Protein HSP60A Reveals a Dynamic Mitochondrial Pattern inDrosophila melanogasterEmbryos

(2008) Luis Alberto Baena-López et al.   JOURNAL OF PROTEOME RESEARCH

NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration

(2008) R. Grace Zhai et al.   NATURE

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

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

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

The PINK1/Parkin pathway regulates mitochondrial morphology

(2008) A. C. Poole et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

N-acetylcysteine amide (AD4) attenuates oxidative stress in beta-thalassemia blood cells

(2007) Johnny Amer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS