C E Beesley
Affiliation: University College London
- 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...
- 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. OnlineC 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)...
- Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutationsC E Beesley
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Hum Genet 109:503-11. 2001....
- Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase geneC 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...
- 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...
- Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIMonique 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...
- Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidasePhilippa 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)...
- 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....