- Overview
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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.
- Publications
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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
04/2019Congenital 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
01/2019Sialic 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
12/2018Gene 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
12/2018Consensus 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
01/2017Exome Sequencing and the Management of Neurometabolic Disorders.
The New England journal of medicine
DOI: 10.1056/nejmoa1515792
PubMed: 27276562
06/2016Exome sequencing and the management of neurometabolic disorders
New England Journal of Medicine
Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Drögemöller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.
DOI: 10.1056/NEJMoa1515792
2016Structure-based mutagenic analysis of mechanism and substrate specificity in mammalian glycosyltransferases: porcine ST3Gal-I.
Glycobiology
DOI: 10.1093/glycob/cwt001
PubMed: 23300007
05/2013Structure and mechanism of the lipooligosaccharide sialyltransferase from Neisseria meningitidis.
The Journal of Biological Chemistry
DOI: 10.1074/jbc.m111.249920
PubMed: 21880735
10/2011Structure and mechanism of the lipooligosaccharide sialyltransferase from Neisseria meningitidis
Journal of Biological Chemistry
Lin, L.Y.-C. and Rakic, B. and Chiu, C.P.C. and Lameignere, E. and Wakarchuk, W.W. and Withers, S.G. and Strynadka, N.C.J.
DOI: 10.1074/jbc.M111.249920
2011Structural insight into mammalian sialyltransferases.
Nature structural & molecular biology
DOI: 10.1038/nsmb.1685
PubMed: 19820709
11/2009Structural 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
09/2009Recent developments in glycoside synthesis with glycosynthases and thioglycoligases
Australian Journal of Chemistry
DOI: 10.1071/CH09059
2009Structural and kinetic characterizations of the polysialic acid O-acetyltransferase OatWY from Neisseria meningitidis
Journal of Biological Chemistry
Lee, H.J. and Rakic, B. and Gilbert, M. and Wakarchuk, W.W. and Withers, S.G. and Strynadka, N.C.J.
DOI: 10.1074/jbc.M109.006049
2009Synthesis and bioorthogonal coupling chemistry of a novel cyclopentenone-containing unnatural tyrosine analogue.
Bioorganic chemistry
DOI: 10.1016/j.bioorg.2007.12.006
PubMed: 18272199
04/2008Benzofuran-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
03/2008A small-molecule probe for hepatitis C virus replication that blocks protein folding.
Chemistry & biology
DOI: 10.1016/j.chembiol.2006.08.010
PubMed: 17052609
10/2006Bleomycin 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
09/2006Peroxisome proliferator-activated receptor alpha antagonism inhibits hepatitis C virus replication.
Chemistry & biology
DOI: 10.1016/j.chembiol.2005.10.006
PubMed: 16426968
01/2006Exploring new chemical space by stereocontrolled diversity-oriented synthesis.
Chemistry & biology
DOI: 10.1016/j.chembiol.2005.01.011
PubMed: 15734644
02/2005Synthesis of (2)-Cytoxazone and (1)-epi-Cytoxazone: the chiral pool approach
Synthetic Communications
2005 - Research
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Grants
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
Honours & Awards2009-2012 - NSERC Postdoctoral Fellowship
2005 - Pfizer Award for Outstanding Achievement, Bio-Organic Gordon Research Conference
2014 - Linda Stevens Memorial Fund Garrod Conference Travel Award 2014
New research funding to accelerate stem cell-based therapies for type 1 diabetes at BC Children’s Hospital
BC Children’s Hospital’s Dr. Francis Lynn is leading one of two groups awarded a total of $6 million in funding from the Government of Canada and JDRF Canada to accelerate the development of stem cell based therapies for type 1 diabetes (T1D)