IDENTIFICATION AND CHARACTERIZATION OF NUCLEAR DISEASE GENES RESPONSIBLE FOR MITOCHONDRIAL DISORDERS

Pubblicazioni Scientifiche

• 1999 HUMAN MOLECULAR GENETICS

  Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions

• 2003 JOURNAL OF MEDICAL GENETICS

  Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son

• 2001 NEUROLOGY

  A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

• 2004 LANCET

  Risk of developing a mitochondrial DNA deletion disorder

• 2001 NATURE GENETICS

  Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria

• 2002 NEUROMUSCULAR DISORDERS

  A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III

• 2003 CURRENT OPINION IN NEUROLOGY

  Mitochondrial disorders

• 2000 HUMAN MOLECULAR GENETICS

  A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

• 2000 SCIENCE

  Role of adenine nucleotide translocator 1 in mtDNA maintenance

• 2004 AMERICAN JOURNAL OF HUMAN GENETICS

  Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein

• 2003 HUMAN MOLECULAR GENETICS

  Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

• 2000 HUMAN MOLECULAR GENETICS

  Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients