T M Cox

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. ncbi request reprint The genetic consequences of our sweet tooth
    Timothy M Cox
    Department of Medicine, University of Cambridge, Level 5, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Nat Rev Genet 3:481-7. 2002
  2. ncbi request reprint Damage at the cellular and organ levels in LSDs: possibility for prevention/reversibility with ERT
    Timothy M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Acta Paediatr Suppl 95:75-6. 2006
  3. 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
  4. 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
  5. ncbi request reprint Hemochromatosis--neonatal and young subjects
    Timothy M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, CB2 2QQ, UK
    Blood Cells Mol Dis 29:411-7. 2002
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications48

  1. ncbi request reprint The genetic consequences of our sweet tooth
    Timothy M Cox
    Department of Medicine, University of Cambridge, Level 5, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Nat Rev Genet 3:481-7. 2002
    ..However, HFI is not the only genetic ill to have emerged from our obsession with sugar: the slave trade, which had such a key part in the development of the sugar industry, also included major genetic consequences in its haunting legacy...
  2. ncbi request reprint Damage at the cellular and organ levels in LSDs: possibility for prevention/reversibility with ERT
    Timothy M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Acta Paediatr Suppl 95:75-6. 2006
  3. 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
    ....
  4. 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...
  5. ncbi request reprint Hemochromatosis--neonatal and young subjects
    Timothy M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, CB2 2QQ, UK
    Blood Cells Mol Dis 29:411-7. 2002
    ..A genome wide scanning study is underway to identify the putative locus...
  6. 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...
  7. 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...
  8. 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
    ....
  9. 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...
  10. 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
    ....
  11. 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...
  12. doi 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
    ....
  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. 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...
  16. 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
    ....
  17. ncbi request reprint Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
    Patrick B Deegan
    Department of Medicine, University of Cambridge, Box 157, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
    Blood Cells Mol Dis 35:259-67. 2005
    ..To improve the assessment of severity of disease and responses to this costly treatment, we have evaluated several enzymatic biomarkers and a newly-described chemokine...
  18. ncbi request reprint Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
    Robin H Lachmann
    Department of Medicine, University of Cambridge, Cambridge CB2 2QQ, UK
    Neurobiol Dis 16:654-8. 2004
    ..These observations support the use of SRT in patients with this devastating neurodegenerative disease...
  19. 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...
  20. ncbi request reprint Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study
    David J Halsall
    Department of Clinical Biochemistry, Addenbrooke s NHS Trust, Cambridge CB2 2QR, UK
    Hum Mol Genet 12:1361-5. 2003
    ..We see no evidence for over-representation of iron loading HFE alleles in type 2 diabetes mellitus, suggesting that screening for HFE mutations in this population is of no value...
  21. doi request reprint Potential biomarkers of osteonecrosis in Gaucher disease
    Elena V Pavlova
    Department of Medicine, University of Cambridge, UK
    Blood Cells Mol Dis 46:27-33. 2011
    ..To investigate the relationship between chemokines and cytokines and osteonecrosis in Gaucher disease, we conducted multiplex assays in a cohort of 100 adult patients...
  22. 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
    ....
  23. 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...
  24. 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
    ....
  25. doi 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
    ....
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. ncbi request reprint Hemochromatosis: genetic testing and clinical practice
    Heinz Zoller
    Department of Medicine, University of Cambridge, Cambridge, United Kingdom
    Clin Gastroenterol Hepatol 3:945-58. 2005
    ..As our mechanistic understanding of iron pathophysiology improves, our desire to integrate clinical decision making with the results of laboratory tests and molecular analysis of human genes poses increasing challenges...
  31. ncbi request reprint Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells
    William J H Griffiths
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, United Kingdom
    J Histochem Cytochem 51:613-24. 2003
    ..Our immunohistochemical findings provide evidence for a novel mechanism for the regulation of iron balance in mammals...
  32. 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...
  33. 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...
  34. 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...
  35. 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
    ....
  36. 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
    ....
  37. 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
    ....
  38. 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...
  39. pmc Future perspectives for glycolipid research in medicine
    Timothy M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
    Philos Trans R Soc Lond B Biol Sci 358:967-73. 2003
    ....
  40. pmc Effective gene therapy in an authentic model of Tay-Sachs-related diseases
    M Begoña Cachón-González
    Department of Medicine, University of Cambridge, Level 5, Box 157, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, United Kingdom
    Proc Natl Acad Sci U S A 103:10373-8. 2006
    ..Gene delivery of beta-hexosaminidase A by using adeno-associated viral vectors has realistic potential for treating the human Tay-Sachs-related diseases...
  41. ncbi request reprint Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
    Carmela Lanzara
    Dipartimento di Patologia Generale, II Universita di Napoli, Italy
    Blood 103:4317-21. 2004
    ..Mutations either generate premature termination codons or were missense substitutions, affecting highly conserved residues, relevant to the protein structure and/or function...
  42. ncbi request reprint Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention
    Rolf G Boot
    Department of Biochemistry, University of Amsterdam Academic Medical Center, Amsterdam, The Netherlands
    Blood 103:33-9. 2004
    ..The potential physiologic consequences of chronically elevated CCL18 in patients with Gaucher disease are discussed...
  43. doi request reprint Imaging MALDI mass spectrometry using an oscillating capillary nebulizer matrix coating system and its application to analysis of lipids in brain from a mouse model of Tay-Sachs/Sandhoff disease
    Yanfeng Chen
    School of Chemistry and Biochemistry, The Parker H Petit Institute for Bioengineering and Bioscience, 315 Ferst Drive, Georgia Institute of Technology, Atlanta, Georgia 30332 0363, USA
    Anal Chem 80:2780-8. 2008
    ..These results illustrate the usefulness of tissue-imaging MALDI-MS with matrix deposition by OCN for histologic comparison of lipids in tissues such as brains from this mouse model of Tay-Sachs and Sandhoff disease...
  44. ncbi request reprint Tartrate-resistant acid phosphatase knockout mice
    Alison R Hayman
    Department of Clinical Veterinary Science, University of Bristol, Langford, United Kingdom
    J Bone Miner Res 18:1905-7. 2003
    ..We propose that TRACP may be an important regulator of osteopontin/eta-1 activity common to both the immune system and skeleton...
  45. ncbi request reprint Therapeutic goals in the treatment of Gaucher disease
    Gregory M Pastores
    Neurology in Pediatrics, Neurgenetics Unit, Department of Neurology, New York University School of Medicine, NY, USA
    Semin Hematol 41:4-14. 2004
    ..Here we establish goals of treatment in Gaucher disease and propose a comprehensive schedule of monitoring of all relevant aspects to confirm the achievement, maintenance, and continuity of the therapeutic response...
  46. ncbi request reprint Tartrate-resistant acid phosphatase: a potential target for therapeutic gold
    Alison R Hayman
    Department of Clinical Veterinary Science, University of Bristol, Bristol, UK
    Cell Biochem Funct 22:275-80. 2004
    ..These findings indicate a possible molecular mechanism for the action of therapeutic gold and further implicate TRAP in the control of immunity...
  47. ncbi request reprint Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)
    Antonella Roetto
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Turin, Italy
    Blood 103:2407-9. 2004
    ..We identified a new mutation (C70R), which affects 1 of the 8 conserved cysteines that form the disulfide bonds and are critical for the stability of the polypeptide...
  48. ncbi request reprint Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease
    Heinz Zoller
    Clinical Division of Gastroenterology and Hepatology, Innsbruck Medical University, Innsbruck, Austria
    Hepatology 42:466-72. 2005
    ..Finally, macrophage iron storage in ferroportin disease is associated with elevated serum pro-hepcidin levels...