C E Beesley

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
    Clare E Beesley
    Biochemistry, Endocrinology and Metabolism Unit, UCL Institute of Child Health, London, UK
    Mol Genet Metab 90:77-80. 2007
  2. ncbi The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online
    C E Beesley
    Department of Cardiothoracic Surgery, Imperial College School of Medicine at the National Heart and Lung Institute, Heart Science Centre, Harefield Hospital, Middlesex, Ub9 GJH, United Kingdom
    Hum Mutat 11:413. 1998
  3. 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
  4. pmc 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
  5. 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
  6. ncbi Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
    Monique M P Hermans
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mutat 23:47-56. 2004
  7. ncbi Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase
    Philippa B Mills
    Institute of Child Health, University College London with Great Ormond Street Hospital for Children, NHS Trust, London WC1N 1EH, UK
    Hum Mol Genet 14:1077-86. 2005
  8. pmc Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
    Martin Hrebicek
    Institute for Inherited Metabolic Disorders, Charles University 1st School of Medicine, Prague, Czech Republic
    Am J Hum Genet 79:807-19. 2006

Collaborators

  • E P Young
  • B G Winchester
  • Mirella Filocamo
  • Arnold J J Reuser
  • Johannes Zschocke
  • P T Clayton
  • Lina Basel-Vanagaite
  • Hitoshi Sakuraba
  • Daniela Concolino
  • Mary Jackson
  • Martin Hrebicek
  • Philippa B Mills
  • Monique M P Hermans
  • Alena Cízková
  • Kenneth Morgan
  • Jiri Zeman
  • Pierre Lepage
  • David Roquis
  • Volkan Seyrantepe
  • Stephanie Durand
  • Jakub Sikora
  • Otto P Van Diggelen
  • Ron A Wevers
  • Robert Ivanek
  • Jiddeke van de Kamp
  • Alexey V Pshezhetsky
  • Lenka Noskova
  • Stanislav Kmoch
  • Jana Urinovská
  • Lenka Mrázová
  • Andrei Verner
  • Jacek Majewski
  • Helena Poupetova
  • T Mary Fujiwara
  • Irene Maire
  • Nicole M Roslin
  • Thomas J Hudson
  • Hana Hartmannova
  • Ben J H M Poorthuis
  • Viktor Stránecký
  • Jérôme Ausseil
  • Neil Dalton
  • Irene Scheimberg
  • Robert A H Surtees
  • Anthony Briddon
  • Simon J R Heales
  • Peter J Scambler
  • Georg F Hoffmann
  • Michael P Champion
  • Ans T Van der Ploeg
  • Wim Kleijer
  • Marian A Kroos
  • Edwin P Kirk
  • Helen Michelakakis
  • Dik van Leenen
  • Ron Wevers
  • Guy Besley
  • Nils Bosshard
  • Janice Fletcher

Detail Information

Publications8

  1. ncbi Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
    Clare E Beesley
    Biochemistry, Endocrinology and Metabolism Unit, UCL Institute of Child Health, London, UK
    Mol Genet Metab 90:77-80. 2007
    ..The deletion is the first large intragenic deletion to be reported in any of the four Sanfilippo subtypes, including Sanfilippo type C in which the gene has recently been identified...
  2. ncbi The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online
    C E Beesley
    Department of Cardiothoracic Surgery, Imperial College School of Medicine at the National Heart and Lung Institute, Heart Science Centre, Harefield Hospital, Middlesex, Ub9 GJH, United Kingdom
    Hum Mutat 11:413. 1998
    ..The final mutation is a duplication of 18 nucleotides in exon 19 (Ins18nt2776) and will result in the insertion of an additional six amino acids into the protein chain after Asn925 (Gly-Val-Pro-Val-Ser-Asn)...
  3. 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
    ....
  4. pmc 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...
  5. 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...
  6. ncbi Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
    Monique M P Hermans
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mutat 23:47-56. 2004
    ..This genotype-phenotype correlation makes DNA analysis a valuable tool to help predict the clinical course of the disease...
  7. ncbi Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase
    Philippa B Mills
    Institute of Child Health, University College London with Great Ormond Street Hospital for Children, NHS Trust, London WC1N 1EH, UK
    Hum Mol Genet 14:1077-86. 2005
    ..Maintenance of optimal PLP levels in the brain may be important in many neurological disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon)...
  8. pmc Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
    Martin Hrebicek
    Institute for Inherited Metabolic Disorders, Charles University 1st School of Medicine, Prague, Czech Republic
    Am J Hum Genet 79:807-19. 2006
    ....