MitMed: un consorzio multicentrico per l’identificazione e la caratterizzazione di geni nucleari responsabili di malattie mitocondriali umane

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

  Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

• AMERICAN JOURNAL OF HUMAN GENETICS

  Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

• AMERICAN JOURNAL OF HUMAN GENETICS

  Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

• AMERICAN JOURNAL OF HUMAN GENETICS

  Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

• AMERICAN JOURNAL OF HUMAN GENETICS

  ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

• AMERICAN JOURNAL OF HUMAN GENETICS

  Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

• AMERICAN JOURNAL OF HUMAN GENETICS

  Mutations in GTPBP3 Cause a Mitochondria! Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

• AMERICAN JOURNAL OF HUMAN GENETICS

  COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

• AMERICAN JOURNAL OF HUMAN GENETICS

  Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Reunion Island

• AMERICAN JOURNAL OF HUMAN GENETICS

  RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

• AMERICAN JOURNAL OF HUMAN GENETICS

  TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

• BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

  Emerging concepts in the therapy of mitochondrial disease

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

• BRAIN

  Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

• CELL METABOLISM

  Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

• CELL METABOLISM

  Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

• CLINICAL GENETICS

  A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

• CLINICAL GENETICS

  DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7

• CLINICAL GENETICS

  Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect

• DISEASE MODELS & MECHANISMS

  The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria

• EMBO MOLECULAR MEDICINE

  Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

• EMBO REPORTS

  UCP4C mediates uncoupled respiration in larvae of Drosophila melanogaster

• FRONTIERS IN GENETICS

  A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

• FRONTIERS IN GENETICS

  Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

• FRONTIERS IN GENETICS

  Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

• FRONTIERS IN PHYSIOLOGY

  Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster

• HUMAN MOLECULAR GENETICS

  Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases

• HUMAN MUTATION

  MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

• HUMAN MUTATION

  A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

• HUMAN MUTATION

  VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

• ISCIENCE

  Drosophila Mpv17 forms an ion channel and regulates energy metabolism

• JOURNAL OF BIOLOGICAL CHEMISTRY

  Functional Characterization of drim2, the Drosophila melanogaster Homolog of the Yeast Mitochondrial Deoxynucleotide Transporter

• JOURNAL OF BIOLOGICAL CHEMISTRY

  Leigh Syndrome in Drosophila melanogaster MORPHOLOGICAL AND BIOCHEMICAL CHARACTERIZATION OF Surf1 POST-TRANSCRIPTIONAL SILENCING

• JOURNAL OF MEDICAL GENETICS

  Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

• JOURNAL OF MEDICAL GENETICS

  Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

• JOURNAL OF NEUROLOGY

  Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

• LANCET NEUROLOGY

  Peripheral neuropathy in mitochondrial disorders

• MITOCHONDRION

  Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae

• MOLECULAR GENETICS AND METABOLISM

  A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

• MOLECULAR THERAPY

  AAV-mediated Liver-specific MPV17 Expression Restores mtDNA Levels and Prevents Diet-induced Liver Failure

• MOLECULAR THERAPY

  Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE

• NATURE COMMUNICATIONS

  EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

• NEUROLOGY

  Novel (ovario) leukodystrophy related to AARS2 mutations

• NEUROLOGY

  A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

• NEUROMUSCULAR DISORDERS

  MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I

• NUCLEIC ACIDS RESEARCH

  Nucleotide excision repair efficiency in quiescent human fibroblasts is modulated by circadian clock

• ORPHANET JOURNAL OF RARE DISEASES

  Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant