Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.

[1]  A. A. Al Aqeel,et al.  A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient , 2003, Clinical genetics.

[2]  R. Wanders,et al.  Carnitine‐acylcarnitine translocase deficiency: case report and review of the literature , 2003, Acta paediatrica.

[3]  R. Wanders,et al.  Carnitine biosynthesis in mammals. , 2002, The Biochemical journal.

[4]  C. Stanley,et al.  Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. , 2001, Molecular genetics and metabolism.

[5]  C. Roe,et al.  Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. , 2001, Molecular genetics and metabolism.

[6]  R. Wanders,et al.  Functional analysis of mutant human carnitine acylcarnitine translocases in yeast. , 2001, Biochemical and biophysical research communications.

[7]  R. Wanders,et al.  Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome , 2001, European Journal of Pediatrics.

[8]  R. Wanders,et al.  Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle. , 2000, Clinica chimica acta; international journal of clinical chemistry.

[9]  K. A. Yamada,et al.  Long-chain acylcarnitine induces Ca2+ efflux from the sarcoplasmic reticulum. , 2000, Journal of cardiovascular pharmacology.

[10]  S. Antonarakis,et al.  Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion , 2000 .

[11]  H. Tabak,et al.  Molecular characterization of carnitine‐dependent transport of acetyl‐CoA from peroxisomes to mitochondria in Saccharomyces cerevisiae and identification of a plasma membrane carnitine transporter, Agp2p , 1999, The EMBO journal.

[12]  F. Taroni,et al.  Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment , 1999, Journal of Inherited Metabolic Disease.

[13]  A. Legrand,et al.  Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency , 1999, Journal of Inherited Metabolic Disease.

[14]  C. Stanley,et al.  The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2. , 1998, Biochemical and biophysical research communications.

[15]  R. Wanders,et al.  Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient , 1998, Journal of Inherited Metabolic Disease.

[16]  D. Turnbull,et al.  A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. , 1998, The Journal of pediatrics.

[17]  R. Wanders,et al.  Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. , 1997, American journal of human genetics.

[18]  J. Bonham,et al.  Carnitine-acylcarnitine translocase deficiency - a mild phenotype , 1997, Journal of Inherited Metabolic Disease.

[19]  V. Iacobazzi,et al.  The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins. , 1997, The Biochemical journal.

[20]  R. Wanders,et al.  Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria. , 1995, Biochemical and biophysical research communications.

[21]  H. Tabak,et al.  The membrane of peroxisomes in Saccharomyces cerevisiae is impermeable to NAD(H) and acetyl‐CoA under in vivo conditions. , 1995, The EMBO journal.

[22]  F. Palmieri.  Mitochondrial carrier proteins , 1994, FEBS letters.

[23]  A. Arduini,et al.  The carnitine acyltransferases and their role in modulating acyl-CoA pools. , 1993, Archives of biochemistry and biophysics.

[24]  S. Pande,et al.  Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. , 1993, The Journal of clinical investigation.

[25]  C. Stanley,et al.  Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. , 1992, The New England journal of medicine.

[26]  F. Palmieri,et al.  Identification and purification of the carnitine carrier from rat liver mitochondria. , 1990, Biochimica et biophysica acta.

[27]  F. Palmieri,et al.  Purification of the mitochondrial carnitine carrier by chromatography on hydroxyapatite and celite , 1989, FEBS letters.

[28]  P. Corr,et al.  Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation. , 1989, The Journal of clinical investigation.

[29]  S. Pande,et al.  An essential requirement of cardiolipin for mitochondrial carnitine acylcarnitine translocase activity. Lipid requirement of carnitine acylcarnitine translocase. , 1986, European journal of biochemistry.

[30]  S. Pande,et al.  Solubilization and reconstitution of rat liver mitochondrial carnitine acylcarnitine translocase. , 1985, Biochemistry.

[31]  M. S. Murthy,et al.  Mechanism of carnitine acylcarnitine translocase-catalyzed import of acylcarnitines into mitochondria. , 1984, The Journal of biological chemistry.

[32]  S. Pande,et al.  Inhibition of mitochondrial carnitine-acylcarnitine translocase by sulfobetaines. , 1980, Canadian journal of biochemistry.

[33]  E. Racker,et al.  Carnitine transport in submitochondrial particles and reconstituted proteoliposomes. , 1979, Biochemical and biophysical research communications.

[34]  R. Ramsay,et al.  The effects of temperature and some inhibitors on the carnitine exchange system of heart mitochondria. , 1976, European journal of biochemistry.

[35]  R. Ramsay,et al.  The mechanism of fatty acid uptake by heart mitochondria: An acylcarnitine‐carnitine exchange , 1975, FEBS letters.

[36]  S. Pande.  A mitochondrial carnitine acylcarnitine translocase system. , 1975, Proceedings of the National Academy of Sciences of the United States of America.

[37]  G. Fraenkel,et al.  Reversible enzymatic acetylation of carnitine. , 1955, Archives of biochemistry and biophysics.

[38]  I. Fritz.  The effect of muscle extracts on the oxidation of palmitic acid by liver slices and homogenates. , 1955, Acta physiologica Scandinavica.

[39]  M. Durán,et al.  Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases , 2003, Springer Berlin Heidelberg.

[40]  M. Durán.  Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Handling , 2003 .

[41]  Y. Kohno,et al.  Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency , 2000, Journal of Human Genetics.

[42]  R. Wanders,et al.  Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts. , 1998, Journal of lipid research.

[43]  S. Antonarakis.  Recommendations for a nomenclature system for human gene mutations , 1998 .

[44]  M. Rocchi,et al.  Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization. , 1997, Cytogenetics and cell genetics.