Enzyme Laboratory


The Enzyme Laboratory has traditionally been at the forefront of disease marker discovery across its history and we are continuing to develop and implement new assays.

With our research partners we are currently investigating potential new biomarker analysis and the development of a dried blood spot multiplex assay for lysosomal storage disorders.

 

CRIM gel 

 

 

de la Fuente C, Burke D, Eaton S, Heales SJ. Inhibition of neuronal mitochondrial complex I or lysosomal glucocerebrosidase is associated with increased dopamine and serotonin turnover. Neurochem Int. 2017 Feb 24. doi: 10.1016/j.neuint.2017.02.013

 

 

Yubero D, Montero R, O'Callaghan M, Pineda M, Meavilla S, Delgadillo V, Sierra C, Altimira L, Navas P, Pope S, Oppenheim M, Neergheen V, Ghosh A, Mills P, Clayton P, Footitt E, Cleary M, Hargreaves I, Jones SA, Heales S, Artuch R. Coenzyme Q(10) and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III. JIMD Rep. 2016;25:1-7.

 

 

Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection  and laboratory diagnosis. Mol Genet Metab. 2016 Sep;119(1-2):160-7.

 

Heywood WE, Camuzeaux S, Doykov I, Patel N, Preece RL, Footitt E, Cleary M, Clayton P, Grunewald S, Abulhoul L, Chakrapani A, Sebire NJ, Hindmarsh P, de Koning TJ, Heales S, Burke D, Gissen P, Mills K. Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of  Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI. Anal Chem. 2015 Dec 15;87(24):12238-44.

 


Baruteau J, Broomfield A, Crook V, Finnegan N, Harvey K, Burke D, Burch M, Shepherd G, Vellodi A. Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease. JIMD Rep. 2014;12:99-102.

 

Manwaring V, Heywood WE, Clayton R, Lachmann RH, Keutzer J, Hindmarsh P, Winchester B, Heales S, Mills K. The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients. J Proteome Res. 2013 May 3;12(5):2013-21.

 

 

Burke DG, Rahim AA, Waddington SN, Karlsson S, Enquist I, Bhatia K, Mehta A, Vellodi A, Heales S. Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes. J Inherit Metab Dis. 2013 Sep;36(5):869-72.

 

 

Gegg ME, Burke D, Heales SJ, Cooper JM, Hardy J, Wood NW, Schapira AH. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol. 2012 Sep;72(3):455-63.
  

 

Manwaring V, Prunty H, Bainbridge K, Burke D, Finnegan N, Franses R, Lam A, Vellodi A, Heales S. Urine analysis of glucose tetrasaccharide by HPLC; a useful  marker for the investigation of patients with Pompe and other glycogen storage diseases. J Inherit Metab Dis. 2012 Mar;35(2):311-6.
 

 

Alonso-Canovas A, Katschnig P, Tucci A, Carecchio M, Wood NW, Edwards M, Martínez Castrillo JC, Burke D, Heales S, Bhatia KP. Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding  the spectrum: case report and literature review. Mov Disord. 2010 Jul 30;25(10):1506-9.

 

© 2011 Great Ormond Street Hospital for Children NHS Trust