B G Winchester

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi Are there useful biochemical markers of disease activity in lysosomal storage diseases?
    B Winchester
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, UK
    J Inherit Metab Dis 24:52-6; discussion 45-6. 2001
  2. ncbi Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting
    B Winchester
    Biochemistry Research Group, UCL Institute of Child Health, Great Ormond Street Hospital, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Mol Genet Metab 93:275-81. 2008
  3. ncbi Lysosomal membrane proteins
    B G Winchester
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Eur J Paediatr Neurol 5:11-9. 2001
  4. ncbi Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
    C E Beesley
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Hum Genet 109:503-11. 2001
  5. ncbi Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
    C E Beesley
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    J Med Genet 40:192-4. 2003
  6. ncbi Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases
    E J Estruch
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, England, UK
    J Gene Med 3:488-97. 2001
  7. ncbi Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities
    E P Young
    Department of Chemical Pathology, Great Ormond Street Hospital, London WC1N 3JH, UK
    Eur J Paediatr Neurol 5:193-6. 2001
  8. ncbi Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation
    G Keir
    Department of Neuroimmunology, National Hospital for Neurology and Neurosurgery, London, UK
    Ann Clin Biochem 36:20-36. 1999
  9. ncbi Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders
    O Diettrich
    Institute of Child Health, London, UK
    FEBS Lett 441:369-72. 1998
  10. ncbi Prenatal diagnosis of lysosomal storage diseases
    B D Lake
    Department of Histopathology, Great Ormond Street Hospital for Children, London, UK
    Brain Pathol 8:133-49. 1998

Collaborators

Detail Information

Publications24

  1. ncbi Are there useful biochemical markers of disease activity in lysosomal storage diseases?
    B Winchester
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, UK
    J Inherit Metab Dis 24:52-6; discussion 45-6. 2001
    ..As the novel forms of treatment being developed may reverse the hypertrophy of the lysosomal system, biochemical markers could also be used to monitor the reversal of pathology and the efficacy of treatment...
  2. ncbi Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting
    B Winchester
    Biochemistry Research Group, UCL Institute of Child Health, Great Ormond Street Hospital, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Mol Genet Metab 93:275-81. 2008
    ..A second test should be done to support the diagnosis of Pompe disease until a program for external quality assurance and proficiency testing of the enzymatic diagnosis in blood is established...
  3. ncbi Lysosomal membrane proteins
    B G Winchester
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Eur J Paediatr Neurol 5:11-9. 2001
    ..Other proteins associate with the membrane transiently or cell-specifically. The structure, function and intracellular transport of these different classes of lysosomal membrane proteins will be reviewed...
  4. ncbi Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
    C E Beesley
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Hum Genet 109:503-11. 2001
    ....
  5. ncbi Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
    C E Beesley
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    J Med Genet 40:192-4. 2003
    ..Accurate carrier detection is now available for other members of this consanguineous family...
  6. ncbi Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases
    E J Estruch
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, England, UK
    J Gene Med 3:488-97. 2001
    ..In this study, these vectors were evaluated in vitro for the therapy of lysosomal storage disorders...
  7. ncbi Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities
    E P Young
    Department of Chemical Pathology, Great Ormond Street Hospital, London WC1N 3JH, UK
    Eur J Paediatr Neurol 5:193-6. 2001
    ..Once an enzyme deficiency has been confirmed reliable prenatal diagnosis is available even if both mutations have not been detected...
  8. ncbi Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation
    G Keir
    Department of Neuroimmunology, National Hospital for Neurology and Neurosurgery, London, UK
    Ann Clin Biochem 36:20-36. 1999
    ..This paper reviews the structure of the glycan chains of proteins and structural alterations in CDGS. It also outlines analytical techniques which are useful in the laboratory study of protein glycoforms and the diagnosis of CDGS...
  9. ncbi Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders
    O Diettrich
    Institute of Child Health, London, UK
    FEBS Lett 441:369-72. 1998
    ..The magnetic lysosomes isolated from these cells are very similar to those from normal cells as judged by lysosomal marker enzyme activity and 2D-PAGE analysis of the enriched proteins...
  10. ncbi Prenatal diagnosis of lysosomal storage diseases
    B D Lake
    Department of Histopathology, Great Ormond Street Hospital for Children, London, UK
    Brain Pathol 8:133-49. 1998
    ..A combined approach to prenatal diagnosis involving biochemical, molecular genetic and morphological studies is recommended...
  11. ncbi Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
    C E Beesley
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, London, UK
    J Inherit Metab Dis 28:759-67. 2005
    ..The four novel missense mutations were transiently expressed in Chinese hamster ovary cells and all were shown to decrease the NAGLU activity markedly, although A246P did produce 12.7% residual enzyme activity...
  12. ncbi Autophagic vacuolar myopathy in twin girls
    J L Holton
    Department of Molecular Neuroscience and Division of Neuropathology, Institute of Neurology, University College London, London, UK
    Neuropathol Appl Neurobiol 32:253-9. 2006
    ..We suggest that these patients may represent manifesting carriers of XMEA, or alternatively, a new form of disease with a similar phenotype having autosomal recessive inheritance...
  13. ncbi Is globotriaosylceramide a useful biomarker in Fabry disease?
    E Young
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, London, UK
    Acta Paediatr Suppl 94:51-4; discussion 37-8. 2005
    ..The aim of this study was to determine whether globotriaosylceramide (Gb3) is a useful biomarker in Fabry disease...
  14. ncbi Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease
    K Mills
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, WC1N 1EH, London, UK
    J Inherit Metab Dis 28:35-48. 2005
    ..The ratio of CDH to CTH was higher in heterozygotes than in hemizygotes. Measurement of urinary CTH gave the best discrimination of heterozygotes from controls...
  15. ncbi Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx
    P B Mills
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, UK
    J Inherit Metab Dis 26:119-34. 2003
    ..This methodology can rapidly pinpoint the defective step(s) in the processing pathway of N-linked glycans, thereby focusing the biochemical analyses that need to be performed to define the genetic basis of these diseases...
  16. ncbi Fabry disease: 20 novel GLA mutations in 35 families
    D Blaydon
    Biochemistry, Endocrinology and Metabolism and Clinical and Molecular Genetics Units, Institute of Child Health at Great Ormond Street Hospital, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mutat 18:459. 2001
    ..The remaining 12 mutations have all been reported previously. All patients with deletions had the classic form of the disease but it was not possible to predict the phenotype from the missense mutations...
  17. ncbi Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha 1-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis
    P B Mills
    Biochemistry Department, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK
    Proteomics 1:778-86. 2001
    ..Profiles of the N-linked glycans of the individual isoforms of alpha 1-antitrypsin were obtained by MALDI-TOF...
  18. ncbi Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology
    K Mills
    Biochemistry Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, 30 Guilford St, London WC1 N 1EH, United Kingdom
    Clin Chem 47:2012-22. 2001
    ..CONCLUSIONS: This study shows that proteomic techniques are a powerful and sensitive means of detecting changes in the amino acid sequence and abnormal posttranslational modifications of specific proteins in a complex biologic matrix...
  19. ncbi Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)
    E Schollen
    J Med Genet 41:550-6. 2004
  20. ncbi Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
    C J Hendriksz
    Children's Liver and GI Unit, Department of Paediatrics, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK
    Arch Dis Child 85:339-40. 2001
    ..She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment...
  21. ncbi Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi
    E P Young
    Chemical Pathology, Great Ormond Street Hospital NHS Trust, Great Ormond Street, London WC1N 3JH, UK
    Prenat Diagn 20:337-9. 2000
    ..This is the first pregnancy at risk for LINCL to be monitored by enzyme assay. No morphological abnormalities were detected...
  22. ncbi The molecular defect underlying canine fucosidosis
    B J Skelly
    Department of Clinical Veterinary Medicine, University of Cambridge, UK
    J Med Genet 33:284-8. 1996
    ..This change causes a frameshift and, in consequence, 25 novel codons are transcribed in exon 2 before the first of two adjacent premature stop codons is encountered...
  23. ncbi Mutation analysis in patients with the typical form of Anderson-Fabry disease
    J P Davies
    Unit of Molecular Genetics, Institute of Child Health, London, UK
    Hum Mol Genet 2:1051-3. 1993
  24. ncbi Bovine mannosidosis--a model lysosomal storage disease
    R D Jolly
    Birth Defects Orig Artic Ser 11:273-8. 1975