T M Cox

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. pmc Imiglucerase in the treatment of Gaucher disease: a history and perspective
    Patrick B Deegan
    Department of Medicine, University of Cambridge, Lysosomal Disorders Unit, Addenbrooke s NHS Foundation Hospitals Trust, Cambridge, UK
    Drug Des Devel Ther 6:81-106. 2012
  2. pmc Gaucher disease: clinical profile and therapeutic developments
    Timothy M Cox
    Department of Medicine, University of Cambridge, Cambridge, UK
    Biologics 4:299-313. 2010
  3. ncbi request reprint The Cambridge Bachelor of Medicine (MB)/Doctor of Philosophy (PhD): graduate outcomes of the first MB/PhD programme in the UK
    Timothy M Cox
    General Practice and Primary Care Research Unit, Department of Public Health and Primary Care Institute of Public Health, Cambridge
    Clin Med 12:530-4. 2012
  4. pmc Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study
    Timothy M Cox
    University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Orphanet J Rare Dis 7:102. 2012
  5. pmc Alkaptonuria: leading to the treasure in exceptions
    Timothy M Cox
    University of Cambridge, Cambridge, UK
    JIMD Rep 5:49-57. 2012
  6. ncbi request reprint Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases
    Timothy M Cox
    University of Cambridge, Department of Medicine, Addenbrooke s Hospital, Cambridge, UK
    Curr Opin Investig Drugs 11:1169-81. 2010
  7. doi request reprint The cellular pathology of lysosomal diseases
    Timothy M Cox
    Department of Medicine, University of Cambridge, Cambridge, UK
    J Pathol 226:241-54. 2012
  8. ncbi request reprint Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
    T M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s NHS Foundation Hospitals Trust, Cambridge, UK
    J Inherit Metab Dis 31:319-36. 2008
  9. pmc Null alleles of the aldolase B gene in patients with hereditary fructose intolerance
    M Ali
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
    J Med Genet 31:499-503. 1994
  10. ncbi request reprint DNA diagnosis of fatal fructose intolerance from archival tissue
    M Ali
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, U K
    Q J Med 86:25-30. 1993

Collaborators

Detail Information

Publications40

  1. pmc Imiglucerase in the treatment of Gaucher disease: a history and perspective
    Patrick B Deegan
    Department of Medicine, University of Cambridge, Lysosomal Disorders Unit, Addenbrooke s NHS Foundation Hospitals Trust, Cambridge, UK
    Drug Des Devel Ther 6:81-106. 2012
    ..The fortunes of the Genzyme Corporation, latterly acquired by global giant Sanofi SA, were founded on the evolution of a blockbuster therapy for a single but, as it turns out, propitious ultra-orphan disorder: Gaucher disease...
  2. pmc Gaucher disease: clinical profile and therapeutic developments
    Timothy M Cox
    Department of Medicine, University of Cambridge, Cambridge, UK
    Biologics 4:299-313. 2010
    ....
  3. ncbi request reprint The Cambridge Bachelor of Medicine (MB)/Doctor of Philosophy (PhD): graduate outcomes of the first MB/PhD programme in the UK
    Timothy M Cox
    General Practice and Primary Care Research Unit, Department of Public Health and Primary Care Institute of Public Health, Cambridge
    Clin Med 12:530-4. 2012
    ....
  4. pmc Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study
    Timothy M Cox
    University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Orphanet J Rare Dis 7:102. 2012
    ..We report findings from a clinical trial evaluating the effects of miglustat treatment in patients with stable type 1 Gaucher disease after enzyme therapy...
  5. pmc Alkaptonuria: leading to the treasure in exceptions
    Timothy M Cox
    University of Cambridge, Cambridge, UK
    JIMD Rep 5:49-57. 2012
    ....
  6. ncbi request reprint Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases
    Timothy M Cox
    University of Cambridge, Department of Medicine, Addenbrooke s Hospital, Cambridge, UK
    Curr Opin Investig Drugs 11:1169-81. 2010
    ..Eliglustat tartrate is orally active and, with potent effects on the primary identified molecular target for type 1 Gaucher disease and other glycosphingolipidoses, appears likely to fulfill high expectations for clinical efficacy...
  7. doi request reprint The cellular pathology of lysosomal diseases
    Timothy M Cox
    Department of Medicine, University of Cambridge, Cambridge, UK
    J Pathol 226:241-54. 2012
    ....
  8. ncbi request reprint Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
    T M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s NHS Foundation Hospitals Trust, Cambridge, UK
    J Inherit Metab Dis 31:319-36. 2008
    ....
  9. pmc Null alleles of the aldolase B gene in patients with hereditary fructose intolerance
    M Ali
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
    J Med Genet 31:499-503. 1994
    ....
  10. ncbi request reprint DNA diagnosis of fatal fructose intolerance from archival tissue
    M Ali
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, U K
    Q J Med 86:25-30. 1993
    ..Analysis of aldolase B genes in this sample by procedures based on the polymerase chain reaction (PCR) confirmed the presence of both mutations in the proposita, the diagnosis of hereditary fructose intolerance, and the cause of death...
  11. doi request reprint B cell lymphoma and myeloma in murine Gaucher's disease
    E V Pavlova
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    J Pathol 231:88-97. 2013
    ....
  12. pmc Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population
    C L James
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
    J Med Genet 33:837-41. 1996
    ..Our findings have implications for establishing an interventional mass screening programme to identify newborn infants with HFI in the UK...
  13. ncbi request reprint Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria
    R P Sarkany
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital
    J Invest Dermatol 102:481-4. 1994
    ..This leads to the expression of a ferrochelatase protein lacking a central region of 40 amino acids...
  14. pmc Hereditary fructose intolerance
    M Ali
    University of Cambridge, Department of Medicine, Addenbrooke s Hospital, UK
    J Med Genet 35:353-65. 1998
    ..Here we review the biochemical, genetic, and molecular basis of human aldolase B deficiency in HFI, a disorder which responds to dietary therapy and in which the principal manifestations of disease are thus preventable...
  15. ncbi request reprint Dietary modifications in patients receiving miglustat
    H Champion
    Paediatric Metabolic Unit, Addenbrooke s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK
    J Inherit Metab Dis 33:S379-83. 2010
    ....
  16. doi request reprint Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease
    D Marchesan
    Department of Medicine Addenbrooke s Hospital, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK
    J Inherit Metab Dis 35:1107-17. 2012
    ..If these observations are confirmed in vivo, alternative mechanisms will be needed to explain the ready clearance of storage from endothelial cells in patients undergoing enzyme replacement therapy...
  17. ncbi request reprint Biomarkers in lysosomal storage diseases: a review
    T M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Acta Paediatr Suppl 94:39-42; discussion 37-8. 2005
    ..Conclusion: New methods for the identification of novel biomarkers have the potential to provide mechanistic insights into the molecular pathogenesis of LSDs, including Fabry disease and Gaucher disease...
  18. pmc Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance
    P Rellos
    Department of Medicine, University of Cambridge, Level 5, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Biochem J 340:321-7. 1999
    ....
  19. ncbi request reprint Clinical evaluation of biomarkers in Gaucher disease
    P B Deegan
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Acta Paediatr Suppl 94:47-50; discussion 37-8. 2005
    ....
  20. ncbi request reprint Substrate reduction therapy for lysosomal storage diseases
    T M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Acta Paediatr Suppl 94:69-75; discussion 57. 2005
    ..The results of ongoing clinical trials of miglustat in type 3 Gaucher disease, Niemann-Pick disease type C and GM2 gangliosidosis are eagerly awaited...
  21. ncbi request reprint The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement
    T M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    J Inherit Metab Dis 26:513-26. 2003
    ..This position statement represents the consensus viewpoint of an independent international advisory council to the European Working Group on Gaucher Disease...
  22. ncbi request reprint Acute intermittent porphyria: fatal complications of treatment
    P E Stein
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge
    Clin Med 12:293-4. 2012
    ..Intravenous glucose in water solutions are contraindicated as they aggravate hyponatraemia, which can prove fatal...
  23. doi request reprint A novel HEXB mutation and its structural effects in juvenile Sandhoff disease
    S Z Wang
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
    Mol Genet Metab 95:236-8. 2008
    ..Identification of D459A contributes to diagnosis and molecular understanding of attenuated Sandhoff disease variants...
  24. ncbi request reprint Aldolase B and fructose intolerance
    T M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, U K
    FASEB J 8:62-71. 1994
    ..The incidence of dental caries is consequently much reduced...
  25. ncbi request reprint Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure
    R P Sarkany
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
    QJM 88:541-9. 1995
    ..Studies of disease inheritance in families affected by protoporphyria may help identify those predisposed to develop severe liver complications, a distinction not currently possible...
  26. ncbi request reprint Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses
    T M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
    J Inherit Metab Dis 24:106-21; discussion 87-8. 2001
    ....
  27. ncbi request reprint Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide
    P D Whitfield
    Biochemical Genetics Unit, Addenbrooke s NHS Trust, Cambridge, UK
    J Inherit Metab Dis 28:21-33. 2005
    ....
  28. ncbi request reprint Twin pairs showing discordance of phenotype in adult Gaucher's disease
    R H Lachmann
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    QJM 97:199-204. 2004
    ..Despite much effort, it is not possible accurately to predict disease severity from the genotype, or to identify those patients destined to develop severe disease and meriting early treatment...
  29. ncbi request reprint Tartrate-resistant acid phosphatase (Acp 5): identification in diverse human tissues and dendritic cells
    A R Hayman
    Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom
    J Histochem Cytochem 49:675-84. 2001
    ..Our findings demonstrate widespread expression of TRAP in human tissues. Its abundant expression in epithelia and dendritic cells suggests a potential role in antigen processing and in immune responses...
  30. pmc Quantifying the Erlenmeyer flask deformity
    A Carter
    Department of Radiology, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
    Br J Radiol 85:905-9. 2012
    ..To devise an easily applied definition of this deformity, we investigated a cohort of knee radiographs in which there was consensus between three experienced radiologists as to the presence or absence of Erlenmeyer flask morphology...
  31. ncbi request reprint Molecular analysis of functional and nonfunctional genes for human ferrochelatase: isolation and characterization of a FECH pseudogene and its sublocalization on chromosome 3
    D M Whitcombe
    Department of Medicine, University of Cambridge, United Kingdom
    Genomics 20:482-6. 1994
    ..The existence of the ferrochelatase pseudogene has practical implications for the molecular analysis of mutations responsible for erythropoietic protoporphyria in man...
  32. pmc Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism
    A L Kelly
    Department of Medicine, University of Cambridge, Level 5, Box 157, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK
    J Med Genet 38:599-610. 2001
    ....
  33. pmc Widespread expression of tartrate-resistant acid phosphatase (Acp 5) in the mouse embryo
    A R Hayman
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
    J Anat 196:433-41. 2000
    ....
  34. ncbi request reprint Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis
    A R Hayman
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
    Development 122:3151-62. 1996
    ....
  35. pmc Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus
    A J Bune
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Immunology 102:103-13. 2001
    ..Our study shows that TRAP participates in the inflammatory response of the Mphi and influences effector signalling pathways in innate immunity...
  36. ncbi request reprint Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease
    D Elstein
    Shaare Zedek Medical Centre, Jerusalem, Israel
    J Inherit Metab Dis 27:757-66. 2004
    ..In conclusion, miglustat was increasingly effective over time and showed acceptable tolerability in patients who continued with treatment for 3 years...
  37. ncbi request reprint Overlapping functions of lysosomal acid phosphatase (LAP) and tartrate-resistant acid phosphatase (Acp5) revealed by doubly deficient mice
    A Suter
    Zentrum Biochemie und Molekulare Zellbiologie, Abt Biochemie II, Universitat Gottingen, Heinrich D√ľker Weg 12, 37073 Gottingen, Germany
    Development 128:4899-910. 2001
    ..We conclude that for several substrates LAP and Acp5 can substitute for each other and that these acid phosphatases are essential for processing of non-collagenous proteins, including osteopontin, by osteoclasts...
  38. ncbi request reprint Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy
    F M Platt
    Glycobiology Institute, Department of Biochemistry, University of Oxford, UK
    J Inherit Metab Dis 24:275-90. 2001
    ..Further trials in type I Gaucher disease are in progress; studies are planned in patients with GSL storage in the CNS...
  39. ncbi request reprint Type 5 acid phosphatase. Sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage
    D K Lord
    Department of Haematology, Royal Postgraduate Medical School, London, England
    Eur J Biochem 189:287-93. 1990
    ..Type 5 acid phosphatase thus represents a tightly regulated system for the study of molecular events in the differentiation programme of the normal macrophage...
  40. ncbi request reprint Calvarial osteoclasts express a higher level of tartrate-resistant acid phosphatase than long bone osteoclasts and activation does not depend on cathepsin K or L activity
    S Perez-Amodio
    Experimental Periodontology, Academic Center for Dentistry Amsterdam, Universiteit van Amsterdam and Vrije Universiteit, Louwesweg 1, 1066 EA Amsterdam, The Netherlands
    Calcif Tissue Int 79:245-54. 2006
    ....