My research focuses on clinical applications of mass spectrometry, including the development of plasma and urine amino acid methods for diagnosis of inborn errors of metabolism.
I am actively involved in the validation of new technologies and assays for use in biochemical genetics and newborn screening laboratories.
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.
Molecular genetics and metabolism reports
Apatean D and Rakic B and Brunel-Guitton C and Hendson G and Bai R and Sargent MA and Lavoie PM and Patel M and Stockler-Ipsiroglu S
DOI: 10.1016/j.ymgmr.2019.100472
PubMed: 31065540
04/2019
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.
Molecular genetics and metabolism reports
Apatean D and Rakic B and Brunel-Guitton C and Hendson G and Bai R and Sargent MA and Lavoie PM and Patel M and Stockler-Ipsiroglu S
DOI: 10.1016/j.ymgmr.2018.12.006
PubMed: 30723688
01/2019
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
JCI insight
Wen XY and Tarailo-Graovac M and Brand-Arzamendi K and Willems A and Rakic B and Huijben K and Da Silva A and Pan X and El-Rass S and Ng R and Selby K and Philip AM and Yun J and Ye XC and Lefeber DJ
DOI: 10.1172/jci.insight.122373
PubMed: 30568043
12/2018
Gene Expression Profiling of Endoplasmic Reticulum Stress in Hepatitis C Virus-Containing Cells Treated with an Inhibitor of Protein Disulfide Isomerases.
ACS omega
Özcelik D and Seto A and Rakic B and Farzam A and Supek F and Pezacki JP
DOI: 10.1021/acsomega.8b02676
PubMed: 30775641
12/2018
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Journal of inherited metabolic disease
DOI: 10.1007/s10545-016-9972-7
PubMed: 27671891
01/2017
Exome Sequencing and the Management of Neurometabolic Disorders.
The New England journal of medicine
DOI: 10.1056/nejmoa1515792
PubMed: 27276562
06/2016
Structure-based mutagenic analysis of mechanism and substrate specificity in mammalian glycosyltransferases: porcine ST3Gal-I.
Glycobiology
DOI: 10.1093/glycob/cwt001
PubMed: 23300007
05/2013
Structure and mechanism of the lipooligosaccharide sialyltransferase from Neisseria meningitidis.
The Journal of Biological Chemistry
DOI: 10.1074/jbc.m111.249920
PubMed: 21880735
10/2011
Structural insight into mammalian sialyltransferases.
Nature structural & molecular biology
DOI: 10.1038/nsmb.1685
PubMed: 19820709
11/2009
Structural and kinetic characterizations of the polysialic acid O-acetyltransferase OatWY from Neisseria meningitidis.
The Journal of biological chemistry
DOI: 10.1074/jbc.m109.006049
PubMed: 19525232
09/2009
Recent developments in glycoside synthesis with glycosynthases and thioglycoligases
Australian Journal of Chemistry
2009
Synthesis and bioorthogonal coupling chemistry of a novel cyclopentenone-containing unnatural tyrosine analogue.
Bioorganic chemistry
DOI: 10.1016/j.bioorg.2007.12.006
PubMed: 18272199
04/2008
Benzofuran-derived cyclic beta-amino acid scaffold for building a diverse set of flavonoid-like probes and the discovery of a cell motility inhibitor.
Organic letters
DOI: 10.1021/ol800050g
PubMed: 18302395
03/2008
A small-molecule probe for hepatitis C virus replication that blocks protein folding.
Chemistry & biology
DOI: 10.1016/j.chembiol.2006.08.010
PubMed: 17052609
10/2006
Bleomycin is a potent small-molecule inhibitor of hepatitis C virus replication.
Chembiochem : a European journal of chemical biology
DOI: 10.1002/cbic.200600180
PubMed: 16888741
09/2006
Peroxisome proliferator-activated receptor alpha antagonism inhibits hepatitis C virus replication.
Chemistry & biology
DOI: 10.1016/j.chembiol.2005.10.006
PubMed: 16426968
01/2006
Exploring new chemical space by stereocontrolled diversity-oriented synthesis.
Chemistry & biology
DOI: 10.1016/j.chembiol.2005.01.011
PubMed: 15734644
02/2005
Synthesis of (2)-Cytoxazone and (1)-epi-Cytoxazone: the chiral pool approach
Synthetic Communications
2005
Rare Diseases: Models and Mechanisms Network: N-Acetylneuraminate pyruvate lyase (NPL) deficiency Functional validation in mouse, $20,000. Conivestigators: Dr. Clara van Karnebeek and Dr. Alexey Pshezhetsky
Rare Disease Foundation and BC Children’s Hospital Foundation (BCCHF): GBA2 validation, $3500. Coinvestigator: Dr. Gabriella Horvath
2009-2012 - NSERC Postdoctoral Fellowship
2005 - Pfizer Award for Outstanding Achievement, Bio-Organic Gordon Research Conference
2014 - Linda Stevens Memorial Fund Garrod Conference Travel Award 2014
Human DNA testing could improve outcomes for patients with COVID-19.
That’s the key idea put forth in preliminary research posted this month to bioRxiv that highlights the potential benefits of testing COVID-19 patients for genetic variants of ACE2—the protein identified as the point-of-entry for the SARS-COV-2 virus into human cells.
We believe there’s nothing we can’t do with your support. It can take years to turn scientific breakthrough into new interventions and treatments. Funding helps speed the pace of change. When given the resources, we can bring transformative therapies – and hope – out of the laboratory and into the clinic to save and improve children’s lives.