MOLECULAR AND GENETICAL CHARACTERIZATION OF A MITOCHONDRIAL MYOPATHY CAUSED BY THE CARNITINE/ACYLCARNITINE TRANSLOCATE DEFICIENCY

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

  Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

• BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Bacterial overexpression, purification, and reconstitution of the carnitine/acylcarnitine carrier from rat liver mitochondria

• BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene

• BIOCHEMICAL JOURNAL

  The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins

• CYTOGENETICS AND CELL GENETICS

  Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization

• JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

  Human mitochondrial transmembrane metabolite carriers: Tissue distribution and its implication for mitochondrial disorders

• JOURNAL OF INHERITED METABOLIC DISEASE

  Carnitine-acylcarnitine carrier deficiency: Identification of the molecular defect in a patient