CARNITINE/ACYLCARNITINE TRANSLOCASE DEFICIENCY: MOLECULAR CHARACTERIZATION AND MUTATIONAL ANALYSIS

Pubblicazioni Scientifiche

• 2001 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Functional analysis of mutant human carnitine acylcarnitine translocases in yeast

• 2001 CYTOGENETICS AND CELL GENETICS

  Genomic organization and mapping of the gene (SW25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC)

• 2002 BIOCHEMISTRY

  Site-directed mutagenesis and chemical modification of the six native cysteine residues of the rat mitochondrial carnitine carrier: Implications for the role of cysteine-136

• 2001 MOLECULAR GENETICS AND METABOLISM

  Aberrant rnRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency

• 2002 NATURE GENETICS

  Mutant deoxynucleotide carrier is associated with congenital microcephaly

• 2001 EUROPEAN JOURNAL OF BIOCHEMISTRY

  Covariance of tricarboxylate carrier activity and lipogenesis in liver of polyunsaturated fatty acid (n-6) fed rats

• 2002 ANNALS OF NEUROLOGY

  Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome