Research Topics
Species | T M CoxSummaryAffiliation: University of Cambridge Country: UK Publications
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Publications
The genetic consequences of our sweet toothTimothy 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...- Gaucher disease: understanding the molecular pathogenesis of sphingolipidosesT M Cox
Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
J Inherit Metab Dis 24:106-21; discussion 87-8. 2001.... - Hemochromatosis--neonatal and young subjectsTimothy 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... - The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statementT 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... - Biomarkers in lysosomal storage diseases: a reviewT 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... - Substrate reduction therapy for lysosomal storage diseasesT 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... - Damage at the cellular and organ levels in LSDs: possibility for prevention/reversibility with ERTTimothy M Cox
Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK
Acta Paediatr Suppl 95:75-6. 2006 
Null alleles of the aldolase B gene in patients with hereditary fructose intoleranceM Ali
Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
J Med Genet 31:499-503. 1994....- DNA diagnosis of fatal fructose intolerance from archival tissueM 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... - Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British populationC 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... 
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoringT M Cox
Department of Medicine, University of Cambridge, Addenbrooke s NHS Foundation Hospitals Trust, Cambridge, UK
J Inherit Metab Dis 31:319-36. 2008....- Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyriaR 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... - Hereditary fructose intoleranceM 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... - Lysosomal delivery of therapeutic enzymes in cell models of Fabry diseaseD 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... - Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intoleranceP Rellos
Department of Medicine, University of Cambridge, Level 5, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
Biochem J 340:321-7. 1999.... - Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control studyDavid 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... - Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher diseasePatrick 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... - Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type CRobin 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... - Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseasesTimothy 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... - Potential biomarkers of osteonecrosis in Gaucher diseaseElena 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... - Clinical evaluation of biomarkers in Gaucher diseaseP B Deegan
Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
Acta Paediatr Suppl 94:47-50; discussion 37-8. 2005.... - Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failureR 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... - Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramideP D Whitfield
Biochemical Genetics Unit, Addenbrooke's NHS Trust, Cambridge, UK
J Inherit Metab Dis 28:21-33. 2005.... - Acute intermittent porphyria: fatal complications of treatmentP 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... - Tartrate-resistant acid phosphatase (Acp 5): identification in diverse human tissues and dendritic cellsA 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... - Aldolase B and fructose intoleranceT 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... - A novel HEXB mutation and its structural effects in juvenile Sandhoff diseaseS 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... - Hemochromatosis: genetic testing and clinical practiceHeinz 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... - Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cellsWilliam 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... - Quantifying the Erlenmeyer flask deformityA 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... - Molecular analysis of functional and nonfunctional genes for human ferrochelatase: isolation and characterization of a FECH pseudogene and its sublocalization on chromosome 3D 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... - Twin pairs showing discordance of phenotype in adult Gaucher's diseaseR H Lachmann
Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK
QJM 97:199-204. 2004..Understanding the interactions between heritable and non-heritable factors will be critical for an analysis of pathogenesis, and the treatment of individuals predisposed to Gaucher disease... - Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolismA 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.... - Widespread expression of tartrate-resistant acid phosphatase (Acp 5) in the mouse embryoA R Hayman
Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
J Anat 196:433-41. 2000.... - Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosisA R Hayman
Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
Development 122:3151-62. 1996.... - Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureusA 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... - Effective gene therapy in an authentic model of Tay-Sachs-related diseasesM 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... - Future perspectives for glycolipid research in medicineTimothy 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.... - Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosisCarmela 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... - Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic interventionRolf 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... - 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 diseaseYanfeng 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... - 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... - Tartrate-resistant acid phosphatase: a potential target for therapeutic goldAlison 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... - Primary iron overload with inappropriate hepcidin expression in V162del ferroportin diseaseHeinz 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... - Therapeutic goals in the treatment of Gaucher diseaseGregory 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... - Tartrate-resistant acid phosphatase knockout miceAlison 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...