MBOAT7 encephalopathy: Characterizing the neurology and epileptology
Epilepsia
De la Rosa, S.O. and Rizzo, V. and Jauss, R.-T. and Bartolomaeus, T. and Escolar, M. and Bernard, G. and Gavrilova, R. and Ahrens-Nicklas, R. and Lemire, G. and Boycott, K.M. and Mercimek-Andrews, S. and Prontera, P. and Costa, C. and Rakic, B. and Boerkoel, C.F. and Huynh, S. and Huh, L. and Sherr, E. and Argilli, E. and Ortigoza-Escobar, J.D. and Casas-Alba, D. and Nunes, T. and Koolen, D.A. and Platzer, K. and Khinchi, M.S. and Gardella, E. and Fenger, C.D. and M?ller, R.S. and Bayat, A.
DOI:
10.1111/epi.18376
Inhibition of xanthine oxidoreductase with febuxostat, but not allopurinol, prevents inflammasome assembly and IL-1 release
Life Science Alliance
Monteiro, L.B. and Archambault, A.-S. and Starchuk, L.F. and Alcazar, A. and Oh, J.H. and Dubland, J.A. and Raki?, B. and Patterson, A.E. and Verchere, C.B. and Geltink, R.I.K.
DOI:
10.26508/lsa.202403191
Macrocytosis in Mitochondrial DNA Deletion Syndromes
Acta Haematologica
Almarzooqi, F. and Vallance, H. and Mezei, M. and Lehman, A. and Horvath, G. and Rakic, B. and Zypchen, L. and Mattman, A.
DOI:
10.1159/000529311
A simple method modification to increase separation of 2- and 3-hydroxyglutaric acid by GC"MS for clinical urine organic acids analysis
Clinical Biochemistry
Dubland, J.A. and Sinclair, G. and Vallance, H. and Raki?, B.
DOI:
10.1016/j.clinbiochem.2022.04.016
Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability
Paediatrics and Child Health (Canada)
Vallance, H. and Sinclair, G. and Rakic, B. and Stockler-Ipsiroglu, S.
DOI:
10.1093/pch/pxaa112
Molecular diagnosis of pompe disease in the genomic era: Correlation with acid alpha-glucosidase activity in dried blood spots
Journal of Clinical Medicine
Thuriot, F. and Gravel, E. and Hodson, K. and Ganopolsky, J. and Rakic, B. and Waters, P.J. and Gravel, S. and Lvesque, S.
DOI:
10.3390/jcm10173868
Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach
Journal of Mass Spectrometry and Advances in the Clinical Lab
Dubland, J.A. and Raki?, B. and Vallance, H. and Sinclair, G.
DOI:
10.1016/j.jmsacl.2021.03.001
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, M.A. and Lavoie, P.M. and Patel, M. and Stockler-Ipsiroglu, S.
DOI:
10.1016/j.ymgmr.2018.12.006
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, M.A. and Lavoie, P.M. and Patel, M. and Stockler-Ipsiroglu, S.
DOI:
10.1016/j.ymgmr.2019.100472
Gene Expression Profiling of Endoplasmatic Reticulum Stress in Hepatitis C Virus-Containing Cells Treated with an Inhibitor of Protein Disulfide Isomerases
ACS Omega
zcelik, D. and Seto, A. and Rakic, B. and Farzam, A. and Supek, F. and Pezacki, J.P.
DOI:
10.1021/acsomega.8b02676
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
JCI insight
Wen, X.-Y. 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, A.M. and Yun, J. and Ye, X.C. and Ross, C.J. and Lehman, A.M. and Zijlstra, F. and Abu Bakar, N. and Drgemller, B. and Moreland, J. and Wasserman, W.W. and Vallance, H. and van Scherpenzeel, M. and Karbassi, F. and Hoskings, M. and Engelke, U. and de Brouwer, A. and Wevers, R.A. and Pshezhetsky, A.V. and van Karnebeek, C.D. and Lefeber, D.J.
DOI:
10.1172/jci.insight.122373
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
Journal of Inherited Metabolic Disease
Bari?, I. and Staufner, C. and Augoustides-Savvopoulou, P. and Chien, Y.-H. and Dobbelaere, D. and Grnert, S.C. and Opladen, T. and Petkovi? Ramad?a, D. and Raki?, B. and Wedell, A. and Blom, H.J.
DOI:
10.1007/s10545-016-9972-7
Exome 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 Drgemller, 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
Structure-based mutagenic analysis of mechanism and substrate specificity in mammalian glycosyltransferases: Porcine ST3Gal-I
Glycobiology
Raki?, B. and Rao, F.V. and Freimann, K. and Wakarchuk, W. and Strynadka, N.C.J. and Withers, S.G.
DOI:
10.1093/glycob/cwt001
Structure 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
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
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
Recent developments in Glycoside Synthesis with Glycosynthases and Thioglycoligases
Australian Journal of Chemistry
Raki?, B. and Withers, S.G.
DOI:
10.1071/CH09059
Benzofuran-derived cyclic -amino acid scaffold for building a diverse set of flavonoid-like probes and the discovery of a cell motility inhibitor
Organic Letters
Nandy, J.P. and Rakic, B. and Sarma, B.V.N.B. and Babu, N. and Lefrance, M. and Enright, G.D. and Leek, D.M. and Daniel, K. and Sabourin, L.A. and Arya, P.
DOI:
10.1021/ol800050g
Synthesis and bioorthogonal coupling chemistry of a novel cyclopentenone-containing unnatural tyrosine analogue
Bioorganic Chemistry
Lorello, G.R. and Legault, M.C.B. and Raki?, B. and Bisgaard, K. and Pezacki, J.P.
DOI:
10.1016/j.bioorg.2007.12.006
A Small-Molecule Probe for Hepatitis C Virus Replication that Blocks Protein Folding
Chemistry and Biology
Rakic, B. and Clarke, J. and Tremblay, T.-L. and Taylor, J. and Schreiber, K. and Nelson, K.M. and Abrams, S.R. and Pezacki, J.P.
DOI:
10.1016/j.chembiol.2006.08.010
Peroxisome proliferator-activated receptor a antagonism inhibits hepatitis C virus replication
Chemistry and Biology
Rakic, B. and Sagan, S.M. and Noestheden, M. and Blanger, S. and Nan, X. and Evans, C.L. and Xie, X.S. and Pezacki, J.P.
DOI:
10.1016/j.chembiol.2005.10.006
Bleomycin is a potent small-molecule inhibitor of hepatitis C virus replication
ChemBioChem
Raki?, B. and Brlotte, M. and Rouleau, Y. and Blanger, S. and Pezacki, J.P.
DOI:
10.1002/cbic.200600180
Synthesis of (-)-cytoxazone and (+)-epi-cytoxazone: The chiral pool approach
Synthetic Communications
Tokic-Vujosevic, Z. and Petrovic, G. and Rakic, B. and Matovic, R. and Saicic, R.N.
DOI:
10.1081/SCC-200048953
Synthesis of (2)-Cytoxazone and (1)-epi-Cytoxazone: the chiral pool approach
Synthetic Communications
Synthesis of (2)-Cytoxazone and (1)-epi-Cytoxazone: the chiral pool approach. Tokic-Vujosevic Z, Petrovic G, Rakic B, Matovic R, Saicic RN. Synthetic Communications 35: 445-458, 2005. (CA)
Exploring new chemical space by stereocontrolled diversity-oriented synthesis
Chemistry and Biology
Arya, P. and Joseph, R. and Gan, Z. and Rakic, B.
DOI:
10.1016/j.chembiol.2005.01.011
