B. Paton

发表

Metabolic changes associated with the switch from a milk to a vegetable diet in the tammar wallaby Macropus eugenii (Desmarest)

P. Janssens, B. Paton, 1981 .

Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.

A. Poulos, J. Weber, M. Schröder, 1992, The Journal of biological chemistry.

Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs

W. Roggendorf, K. Harzer, B. Paton, 1993, Human Genetics.

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: Biochemical signs of combined sphingolipidoses

A. Poulos, M. Popp, T. Grisar, 1989, European Journal of Pediatrics.

Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase.

A. Poulos, K. Harzer, B. Kustermann-Kuhn, 1992, The Biochemical journal.

Pex13 Inactivation in the Mouse Disrupts Peroxisome Biogenesis and Leads to a Zellweger Syndrome Phenotype

G. Kay, D. Crane, C. Paterson, 2003, Molecular and Cellular Biology.

Accumulation and defective β‐oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants

A. Poulos, H. Singh, B. Paton, 1986, Clinical genetics.

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.

P. Mayerhofer, A. Roscher, S. Kammerer, 2000, American journal of human genetics.

12-O-Tetradecanoylphorbol-13-acetate induced alterations in mouse epidermal 3-hydroxy-3-methylglutaryl CoA reductase.

S. Goldfarb, R. Boutwell, T. Ramasarma, 1981, Biochemical and biophysical research communications.

An Australasian neuronal ceroid diagnostic service for the lipofuscinoses

M. Fietz, B. Paton, V. Muller, 2001 .

An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.

M. Fietz, B. Paton, V. Muller, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Molecular changes in the d-bifunctional protein cDNA sequence in australasian patients belonging to the bifunctional protein complementation group

A. Pollard, B. Paton, 2007, Cell Biochemistry and Biophysics.

Dolichol metabolism in cultured skin fibroblasts from patients with “neuronal” ceroid lipofuscinosis (Batten's disease)

A. Poulos, B. Paton, 1984, Journal of Inherited Metabolic Disease.

Saposins (sap) A and C activate the degradation of galactosylceramide in living cells

T. Levade, J. O'brien, M. Hiraiwa, 1997, FEBS letters.

Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study

W. Schlote, J. Seeger, I. Schuster, 1991, European Journal of Pediatrics.

Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies.

Y. Kishimoto, R. Salvayre, T. Levade, 1997, Clinica chimica acta; international journal of clinical chemistry.

Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases

A. Poulos, B. Paton, J. V. Crugten, 1986, Journal of Inherited Metabolic Disease.

Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.

D. Crane, A. Poulos, B. Paton, 1996, The Journal of clinical investigation.

Inherited Peroxisomal Disorders: Defects in the Oxidation of Very Long Chain Fatty Acids and Phytanic Acid

A. Fellenberg, A. Poulos, David W. Johnson, 1987 .

Prosaposin Deficiency and Saposin B Deficiency (Activator-Deficient Metachromatic Leukodystrophy): Report on Two Patients Detected by Analysis of Urinary Sphingolipids and Carrying Novel PSAP Gene Mutations

I. Krägeloh-Mann, M. Staudt, M. Elleder, 2009, American journal of medical genetics. Part A.

Very long-chain fatty acids in peroxisomal disease.

D. Johnson, K. Beckman, B. S. Robinson, 1992, Advances in experimental medicine and biology.

Normal dolichol concentration in urine sediments from four patients with neuronal ceroid lipofuscinosis (Batten's disease)

A. Poulos, B. Paton, 1987, Journal of Inherited Metabolic Disease.

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders

D. Crane, B. Paton, M. Maxwell, 2005, Human mutation.

Novel PEX1 mutations and genotype–phenotype correlations in Australasian peroxisome biogenesis disorder patients

Terje Svingen, D. Crane, T. Svingen, 2002, Human mutation.

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

D. Crane, M. A. Maxwell, P. V. Nelson, 1999, Human Genetics.

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor‐2) gene in patients with peroxisome biogenesis disorders

H. Moser, R. Wanders, G. Besley, 1999, Human mutation.

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

J. Christodoulou, A. Poulos, Y. Suzuki, 1995, The Journal of pediatrics.

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.

M. Elleder, M. Hřebíček, H. Hulkova, 2001, Human molecular genetics.

Hepatic glycogen metabolism and its regulation by hormones in pouch young of the tammar wallaby, Macropus eugenii (Desmarest).

P. Janssens, B. Paton, 1981, General and comparative endocrinology.

The regulation of gluconeogenesis in pouch young of the tammar wallaby, Macropus eugenii (Desmarest).

E. Whitelaw, P. Janssens, B. Paton, 1977, Australian journal of biological sciences.

Saposins (sap) A and C activate the degradation of galactosylsphingosine

M. Hiraiwa, K. Harzer, B. Paton, 2001, FEBS letters.

Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance

D. Crane, Tam Nguyen, Jonas Bjorkman, 2006, Journal of Cell Science.

Stimulation of rat liver 4-hydroxybenzoate: polyprenyl transferase activity by a cytosolic protein factor; evidence for a polyprenyl pyrophosphate transport protein.

S. Ranganathan, A. Gupta, H. Rudney, 1984, Biochemical and biophysical research communications.

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D‐bifunctional protein deficiency

A. Pollard, B. Paton, P. Sharp, 2002, Prenatal diagnosis.

Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.

M. Elleder, H. Rosewich, M. Hřebíček, 2005, Neuropediatrics.

High levels of inosine monophosphate in the erythrocytes of elasmobranchs.

J. Thompson, B. Paton, M. Coates, 1978, The Journal of experimental zoology.

Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders

K. Sandhoff, K. Harzer, B. Paton, 1992, Human Genetics.

Immunocytochemical localization of sphingolipid activator protein 2 (SAP-2) in normal and SAP-deficient fibroblasts.

A. Poulos, K. Harzer, J. L. Hughes, 1990, European journal of cell biology.

Inactivation of 3-hydroxy-3-methylglutaryl CoA reductase by Fs++ and a cytosolic protein.

S. Goldfarb, T. Ramasarma, B. Paton, 1981, Biochemical and biophysical research communications.

Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome.

C. P. Morris, A. Poulos, S. Heron, 1997, American journal of human genetics.

Novel PEX1 coding mutations and 5′ UTR regulatory polymorphisms

D. Crane, B. Paton, M. Maxwell, 2005, Human mutation.

Metabolism of trideuterated iso-lignoceric acid in rats in Vivo and in human fibroblasts in culture

K. Beckman, A. Poulos, David W. Johnson, 1999, Lipids.