Burke D - Search Results

1

Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots.

Hirachan R, Horman A, Burke D, Heales S. Hirachan R, et al. Among authors: burke d. JIMD Rep. 2024 Feb 19;65(2):124-131. doi: 10.1002/jmd2.12413. eCollection 2024 Mar. JIMD Rep. 2024. PMID: 38444576 Free PMC article.

2

Differential activity of glucocerebrosidase in neurons and astrocytes; implications for evaluating tissue homogenates derived from Parkinson's disease brains.

Burke D, Heales S. Burke D, et al. J Neurol Sci. 2020 Nov 15;418:117097. doi: 10.1016/j.jns.2020.117097. Epub 2020 Aug 13. J Neurol Sci. 2020. PMID: 32823133 No abstract available.

3

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.

Manwaring V, Prunty H, Bainbridge K, Burke D, Finnegan N, Franses R, Lam A, Vellodi A, Heales S. Manwaring V, et al. Among authors: burke d. J Inherit Metab Dis. 2012 Mar;35(2):311-6. doi: 10.1007/s10545-011-9360-2. Epub 2011 Jun 18. J Inherit Metab Dis. 2012. PMID: 21687968

4

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.

Burke DG, Rahim AA, Waddington SN, Karlsson S, Enquist I, Bhatia K, Mehta A, Vellodi A, Heales S. Burke DG, et al. J Inherit Metab Dis. 2013 Sep;36(5):869-72. doi: 10.1007/s10545-012-9561-3. Epub 2012 Nov 15. J Inherit Metab Dis. 2013. PMID: 23151684

5

Inhibition of neuronal mitochondrial complex I or lysosomal glucocerebrosidase is associated with increased dopamine and serotonin turnover.

de la Fuente C, Burke DG, Eaton S, Heales SJR. de la Fuente C, et al. Neurochem Int. 2017 Oct;109:94-100. doi: 10.1016/j.neuint.2017.02.013. Epub 2017 Feb 24. Neurochem Int. 2017. PMID: 28242245

6

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.

Wilson MP, Footitt EJ, Papandreou A, Uudelepp ML, Pressler R, Stevenson DC, Gabriel C, McSweeney M, Baggot M, Burke D, Stödberg T, Riney K, Schiff M, Heales SJR, Mills KA, Gissen P, Clayton PT, Mills PB. Wilson MP, et al. Among authors: burke d. Anal Chem. 2017 Sep 5;89(17):8892-8900. doi: 10.1021/acs.analchem.7b01358. Epub 2017 Aug 17. Anal Chem. 2017. PMID: 28782931 Free PMC article.

7

Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells.

Lambert JRA, Howe SJ, Rahim AA, Burke DG, Heales SJR. Lambert JRA, et al. Int J Mol Sci. 2019 Sep 5;20(18):4349. doi: 10.3390/ijms20184349. Int J Mol Sci. 2019. PMID: 31491876 Free PMC article.

8

Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia.

Schreglmann SR, Burke D, Batla A, Kresojevic N, Wood N, Heales S, Bhatia KP. Schreglmann SR, et al. Among authors: burke d. Mov Disord. 2022 Apr;37(4):875-877. doi: 10.1002/mds.28937. Epub 2022 Jan 25. Mov Disord. 2022. PMID: 35080042 No abstract available.

9

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.

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. Heywood WE, et al. Among authors: burke d. Anal Chem. 2015 Dec 15;87(24):12238-44. doi: 10.1021/acs.analchem.5b03232. Epub 2015 Nov 20. Anal Chem. 2015. PMID: 26537538

10

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.

Gegg ME, Burke D, Heales SJ, Cooper JM, Hardy J, Wood NW, Schapira AH. Gegg ME, et al. Among authors: burke d. Ann Neurol. 2012 Sep;72(3):455-63. doi: 10.1002/ana.23614. Ann Neurol. 2012. PMID: 23034917 Free PMC article.

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