DISORDERS OF THE NUCLEUS-MITOCHONDRIA CROSSTALK: CHARACTERIZATION OF NUCLEAR GENES CONTROLLING MTDNA BIOGENESIS AND CREATION OF IN VIVO DISEASE MODELS

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

  An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p

• AMERICAN JOURNAL OF HUMAN GENETICS

  Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

• ANNALS OF NEUROLOGY

  A novel mutation in the mitochondrial tRNAVal gene associated with a complex neurological presentation

• ANNALS OF NEUROLOGY

  Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease

• CARDIOVASCULAR RESEARCH

  Cardiomyopathies in disorders of oxidative metabolism

• CELL

  Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

• CURRENT OPINION IN NEUROLOGY

  Disorders of mitochondria and related metabolism

• GENOMICS

  Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

• HUMAN MOLECULAR GENETICS

  A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome

• HUMAN MOLECULAR GENETICS

  Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the expressed sequence tags database

• JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

  Disorders of nuclear-mitochondrial intergenomic signalling

• JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six families

• MEDICINE

  Mitochondrial disorders