{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:15:24Z","timestamp":1789179324490,"version":"build-2803163510"},"reference-count":61,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2019,1,22]],"date-time":"2019-01-22T00:00:00Z","timestamp":1548115200000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"B.C. Children\u2019s Hospital Foundation"},{"name":"Collaborative Area of Innovation"},{"DOI":"10.13039\/501100000233","name":"Genome British Columbia","doi-asserted-by":"publisher","award":["SOF-195"],"award-info":[{"award-number":["SOF-195"]}],"id":[{"id":"10.13039\/501100000233","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000245","name":"Michael Smith Foundation for Health Research","doi-asserted-by":"publisher","award":["#00032"],"award-info":[{"award-number":["#00032"]}],"id":[{"id":"10.13039\/501100000245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["#301221"],"award-info":[{"award-number":["#301221"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012280","name":"Rare Diseases Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012280","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Canadian Rare Diseases Models and Mechanism Network"},{"DOI":"10.13039\/100014429","name":"CHEO Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100014429","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100002243","name":"National Ataxia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002243","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Natural Sciences and Engineering Research Council RTI"},{"name":"Vanier Canada Graduate Scholarship"},{"name":"CIHR postdoctoral fellowship award"},{"name":"CIHR Foundation grant","award":["# FDN-154279"],"award-info":[{"award-number":["# FDN-154279"]}]},{"DOI":"10.13039\/501100002385","name":"Ministry of Higher Education","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002385","id-type":"DOI","asserted-by":"publisher"}]},{"name":"TUB\u0130TAK from Turkey","award":["#111S217"],"award-info":[{"award-number":["#111S217"]}]},{"name":"Michael Smith Foundation"},{"name":"Metakids Foundation salary award"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,3,1]]},"DOI":"10.1093\/brain\/awy346","type":"journal-article","created":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T04:21:24Z","timestamp":1545279684000},"page":"542-559","source":"Crossref","is-referenced-by-count":87,"title":["PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights"],"prefix":"10.1093","volume":"142","author":[{"given":"Devon L","family":"Johnstone","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"},{"name":"Department of Biology, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilal H","family":"Al-Shekaili","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada"},{"name":"British Columbia Children\u2019s Hospital Research Institute, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Tarailo-Graovac","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada"},{"name":"British Columbia Children\u2019s Hospital Research Institute, Vancouver, BC, Canada"},{"name":"Institute of Physiology and Biochemistry, Faculty of Biology, The University of Belgrade, Belgrade, Serbia"},{"name":"Departments of Biochemistry, Molecular Biology, and Medical Genetics, Cumming School of Medicine, Alberta Children\u2019s Hospital Research Institute, University of Calgary, Calgary, AB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole I","family":"Wolf","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Amsterdam University Medical Centres, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Autumn S","family":"Ivy","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford University School of Medicine, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Demarest","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Children\u2019s Hospital Colorado, CO, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Roussel","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolita","family":"Ciapaite","sequence":"additional","affiliation":[{"name":"Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo W T","family":"van Roermund","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Clinical Chemistry, Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin D","family":"Kernohan","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ceres","family":"Kosuta","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"},{"name":"Department of Biology, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Ban","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"},{"name":"Department of Biology, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Ito","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Skye","family":"McBride","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al-Thihli","sequence":"additional","affiliation":[{"name":"Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rana A","family":"Abdelrahim","sequence":"additional","affiliation":[{"name":"Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roshan","family":"Koul","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amna","family":"Al Futaisi","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte A","family":"Haaxma","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Amalia Children\u2019s Hospital and Donders Institute of Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Olson","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children\u2019s Hospital, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laufey Yr","family":"Sigurdardottir","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Central Florida, Nemours Children\u2019s Hospital, Orlando, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgianne L","family":"Arnold","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburg, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica H","family":"Gerkes","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Boon","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Rebecca","family":"Heiner-Fokkema","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Noble","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein","family":"Bosma","sequence":"additional","affiliation":[{"name":"Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Jans","sequence":"additional","affiliation":[{"name":"Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands"},{"name":"United for Metabolic Diseases, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A","family":"Koolen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Nijmegen, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britt","family":"Dr\u00f6gem\u00f6ller","sequence":"additional","affiliation":[{"name":"British Columbia Children\u2019s Hospital Research Institute, Vancouver, BC, Canada"},{"name":"Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin J","family":"Ross","sequence":"additional","affiliation":[{"name":"British Columbia Children\u2019s Hospital Research Institute, Vancouver, BC, Canada"},{"name":"Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[{"name":"McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan T","family":"Cho","sequence":"additional","affiliation":[{"name":"GeneDx Inc., Gaithersburg, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"Begtrup","sequence":"additional","affiliation":[{"name":"GeneDx Inc., Gaithersburg, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wyeth W","family":"Wasserman","sequence":"additional","affiliation":[{"name":"British Columbia Children\u2019s Hospital Research Institute, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuan","family":"Bui","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Brimble","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Violante","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences and Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sander M","family":"Houten","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences and Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron A","family":"Wevers","sequence":"additional","affiliation":[{"name":"United for Metabolic Diseases, The Netherlands"},{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martijn","family":"van Faassen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ido P","family":"Kema","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Lepage","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Care4Rare Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A","family":"Lines","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"},{"name":"Division of Metabolics and Newborn Screening, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A","family":"Dyment","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"},{"name":"Department of Medical Genetics, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J A","family":"Wanders","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Clinical Chemistry, Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, The Netherlands"},{"name":"United for Metabolic Diseases, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanda","family":"Verhoeven-Duif","sequence":"additional","affiliation":[{"name":"Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands"},{"name":"United for Metabolic Diseases, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Ekker","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym M","family":"Boycott","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"},{"name":"Department of Medical Genetics, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan M","family":"Friedman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada"},{"name":"British Columbia Children\u2019s Hospital Research Institute, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izabella A","family":"Pena","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"},{"name":"Department of Biology, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara D M","family":"van Karnebeek","sequence":"additional","affiliation":[{"name":"British Columbia Children\u2019s Hospital Research Institute, Vancouver, BC, Canada"},{"name":"United for Metabolic Diseases, The Netherlands"},{"name":"Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands"},{"name":"Centre for Molecular Medicine and Therapeutics, Department of Pediatrics, University of British Columbia, Vancouver, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,1,21]]},"reference":[{"key":"key\n\t\t\t\t2019022703311350800_awy346-B1","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1007\/s11011-016-9933-8","article-title":"Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy","volume":"32","author":"Al Teneiji","year":"2017","journal-title":"Metab Brain Dis"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B2","doi-asserted-by":"crossref","first-page":"2410","DOI":"10.1038\/ncomms3410","article-title":"Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment","volume":"4","author":"Baraban","year":"2013","journal-title":"Nat Commun"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B3","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/j.neuroscience.2004.11.031","article-title":"Pentylenetetrazole induced changes in zebrafish behavior, neural activity and c-fos expression","volume":"131","author":"Baraban","year":"2005","journal-title":"Neuroscience"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B4","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/tbmb.718540876","article-title":"Yeast models of human mitochondrial diseases","volume":"55","author":"Barrientos","year":"2003","journal-title":"IUBMB Life"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B5","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1007\/s00431-008-0823-x","article-title":"Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry","volume":"168","author":"Basura","year":"2009","journal-title":"Eur J Pediatr"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B6","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1016\/j.bone.2007.01.020","article-title":"Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T > C, p.M226T; c.1112C > T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene","volume":"40","author":"Baumgartner-Sigl","year":"2007","journal-title":"Bone"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B7","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1212\/WNL.0b013e3181e620ae","article-title":"Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency","volume":"75","author":"Brun","year":"2010","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B8","doi-asserted-by":"crossref","first-page":"D1251","DOI":"10.1093\/nar\/gkv1003","article-title":"MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins","volume":"44","author":"Calvo","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B9","doi-asserted-by":"crossref","first-page":"2215","DOI":"10.1038\/nprot.2017.104","article-title":"Rapid immunopurification of mitochondria for metabolite profiling and absolute quantification of matrix metabolites","volume":"12","author":"Chen","year":"2017","journal-title":"Nat Protoc"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B10","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s10545-005-0243-2","article-title":"B6-responsive disorders: a model of vitamin dependency","volume":"29","author":"Clayton","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B11","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1016\/j.ajhg.2016.10.011","article-title":"Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause Vitamin-B6-dependent epilepsy","volume":"99","author":"Darin","year":"2016","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B12","doi-asserted-by":"crossref","first-page":"e79240","DOI":"10.1371\/journal.pone.0079240","article-title":"Identification of new sphingomyelinases D in pathogenic fungi and other pathogenic organisms","volume":"8","author":"Dias-Lopes","year":"2013","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B13","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1146\/annurev.biochem.73.011303.074021","article-title":"Pyridoxal phosphate enzymes: mechanistic, structural, and evolutionary considerations","volume":"73","author":"Eliot","year":"2004","journal-title":"Annu Rev Biochem"},{"issue":"Pt 4","key":"key\n\t\t\t\t2019022703311350800_awy346-B14","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1107\/S0907444910007493","article-title":"Features and development of Coot","volume":"66","author":"Emsley","year":"2010","journal-title":"Acta Crystallogr D Biol Crystallogr"},{"issue":"Pt 1","key":"key\n\t\t\t\t2019022703311350800_awy346-B15","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1107\/S0907444902018012","article-title":"Structure of a yeast hypothetical protein selected by a structural genomics approach","volume":"59","author":"Eswaramoorthy","year":"2003","journal-title":"Acta Crystallogr D Biol Crystallogr"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B16","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1111\/febs.13211","article-title":"How pyridoxal 5\u2019-phosphate differentially regulates human cytosolic and mitochondrial serine hydroxymethyltransferase oligomeric state","volume":"282","author":"Giardina","year":"2015","journal-title":"FEBS J"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B17","unstructured":"Gospe SJ . Pyridoxine-Dependent Epilepsy. GeneReviews\u00ae [Internet] 2017 2017 Apr 13 [cited 2017; Available from https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1486\/"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B18","doi-asserted-by":"crossref","first-page":"D514","DOI":"10.1093\/nar\/gki033","article-title":"Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders","volume":"33","author":"Hamosh","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B19","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1242\/dmm.002139","article-title":"Zebrafish as a model for studying genetic aspects of epilepsy","volume":"3","author":"Hortopan","year":"2010","journal-title":"Dis Model Mech"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B20","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1038\/nbt.2501","article-title":"Efficient genome editing in zebrafish using a CRISPR-Cas system","volume":"31","author":"Hwang","year":"2013","journal-title":"Nat Biotechnol"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B21","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/s100380050172","article-title":"Cloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genes","volume":"44","author":"Ikegawa","year":"1999","journal-title":"J Hum Genet"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B22","doi-asserted-by":"crossref","first-page":"5439","DOI":"10.1128\/JB.00593-13","article-title":"Conserved pyridoxal protein that regulates Ile and Val metabolism","volume":"195","author":"Ito","year":"2013","journal-title":"J Bacteriol"},{"issue":"2","key":"key\n\t\t\t\t2019022703311350800_awy346-B23","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/0167-4838(95)00025-P","article-title":"Pyridoxal phosphate-dependent enzymes","volume":"1248","author":"John","year":"1995","journal-title":"Biochim Biophys Acta"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B24","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.jmb.2016.12.004","article-title":"Arpeggio: a web server for calculating and visualising interatomic interactions in protein structures","volume":"429","author":"Jubb","year":"2017","journal-title":"J Mol Biol"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B25","doi-asserted-by":"crossref","first-page":"246","DOI":"10.2183\/pjab.84.246","article-title":"Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia","volume":"84","author":"Kikuchi","year":"2008","journal-title":"Proc Jpn Acad Ser B Phys Biol Sci"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B26","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.joca.2012.02.010","article-title":"Improving bioscience research reporting: the ARRIVE guidelines for reporting animal research","volume":"20","author":"Kilkenny","year":"2012","journal-title":"Osteoarthritis Cartilage"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B27","article-title":"High-throughput DNA extraction and genotyping of 3dpf Zebrafish Larvae by Fin Clipping","volume":"136","author":"Kosuta","year":"2018","journal-title":"J Vis Exp"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B28","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1242\/dmm.020438","article-title":"Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies","volume":"8","author":"Lasserre","year":"2015","journal-title":"Dis Model Mech"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B29","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nm1366","article-title":"Mutations in antiquitin in individuals with pyridoxine-dependent seizures","volume":"12","author":"Mills","year":"2006","journal-title":"Nat Med"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B30","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/hmg\/ddi120","article-title":"Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5\u2019-phosphate oxidase","volume":"14","author":"Mills","year":"2005","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B31","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/S0022-2836(02)00649-6","article-title":"One fold with many functions: the evolutionary relationships between TIM barrel families based on their sequences, structures and functions","volume":"321","author":"Nagano","year":"2002","journal-title":"J Mol Biol"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B32","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.cell.2008.06.016","article-title":"A mitochondrial protein compendium elucidates complex I disease biology","volume":"134","author":"Pagliarini","year":"2008","journal-title":"Cell"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B33","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1534\/genetics.117.300137","article-title":"Pyridoxine-dependent epilepsy in zebrafish caused by Aldh7a1 deficiency","volume":"207","author":"Pena","year":"2017","journal-title":"Genetics"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B34","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1038\/sj.embor.embor914","article-title":"A genomic overview of pyridoxal-phosphate-dependent enzymes","volume":"4","author":"Percudani","year":"2003","journal-title":"EMBO Rep"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B35","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1186\/1471-2105-10-273","article-title":"The B6 database: a tool for the description and classification of vitamin B6-dependent enzymatic activities and of the corresponding protein families","volume":"10","author":"Percudani","year":"2009","journal-title":"BMC Bioinformatics"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B36","doi-asserted-by":"crossref","first-page":"W314","DOI":"10.1093\/nar\/gku411","article-title":"DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach","volume":"42","author":"Pires","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B37","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1136\/jmedgenet-2017-104521","article-title":"Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy","volume":"54","author":"Plecko","year":"2017","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B38","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1016\/j.braindev.2011.08.003","article-title":"Pyruvate dehydrogenase deficiency and epilepsy","volume":"33","author":"Prasad","year":"2011","journal-title":"Brain Dev"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B39","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1099\/mic.0.000255","article-title":"Evidence that COG0325 proteins are involved in PLP homeostasis","volume":"162","author":"Prunetti","year":"2016","journal-title":"Microbiology"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B40","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.3945\/jn.113.174599","article-title":"A mathematical model of tryptophan metabolism via the kynurenine pathway provides insights into the effects of vitamin B-6 deficiency, tryptophan loading, and induction of tryptophan 2,3-dioxygenase on tryptophan metabolites","volume":"143","author":"Rios-Avila","year":"2013","journal-title":"J Nutr"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B41","doi-asserted-by":"crossref","first-page":"W462","DOI":"10.1093\/nar\/gkq319","article-title":"ZiFiT (Zinc Finger Targeter): an updated zinc finger engineering tool","volume":"38","author":"Sander","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B42","volume-title":"The PyMOL molecular graphics system, Version 1.8","author":"Schrodinger","year":"2015"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B43","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1056\/NEJMoa1616361","article-title":"NAD deficiency, congenital malformations, and niacin supplementation","volume":"377","author":"Shi","year":"2017","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B44","doi-asserted-by":"crossref","first-page":"D1258","DOI":"10.1093\/nar\/gkv1001","article-title":"MitoMiner v3.1, an update on the mitochondrial proteomics database","volume":"44","author":"Smith","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B45","first-page":"378","article-title":"The use of fibroblasts from patients with inherited mitochondrial disorders for pathomechanistic studies and evaluation of therapies","author":"Soiferman"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B46","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.ymgme.2011.05.014","article-title":"Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up","volume":"104","author":"Stockler","year":"2011","journal-title":"Mol Genet Metab"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B47","doi-asserted-by":"crossref","first-page":"615","DOI":"10.2217\/14796708.1.5.615","article-title":"Inborn errors affecting vitamin B6 metabolism","volume":"1","author":"Surtees","year":"2006","journal-title":"Future Neurol"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B48","doi-asserted-by":"crossref","first-page":"2246","DOI":"10.1056\/NEJMoa1515792","article-title":"Exome sequencing and the management of neurometabolic disorders","volume":"374","author":"Tarailo-Graovac","year":"2016","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B49","doi-asserted-by":"crossref","first-page":"4409","DOI":"10.1093\/hmg\/ddq364","article-title":"Knockdown of zebrafish Lgi1a results in abnormal development, brain defects and a seizure-like behavioral phenotype","volume":"19","author":"Teng","year":"2010","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B50","doi-asserted-by":"crossref","first-page":"3431","DOI":"10.1002\/1873-3468.12841","article-title":"Studies on cyanobacterial protein PipY shed light on structure, potential functions, and vitamin B6 -dependent epilepsy","volume":"591","author":"Tremino","year":"2017","journal-title":"FEBS Lett"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B51","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1002\/humu.23540","article-title":"Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations","volume":"39","author":"Tremino","year":"2018","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B52","doi-asserted-by":"crossref","first-page":"1260419","DOI":"10.1126\/science.1260419","article-title":"Proteomics. Tissue-based map of the human proteome","volume":"347","author":"Uhlen","year":"2015","journal-title":"Science"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B53","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.aca.2011.11.018","article-title":"Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography-tandem mass spectrometry","volume":"712","author":"van der Ham","year":"2012","journal-title":"Anal Chim Acta"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B54","doi-asserted-by":"crossref","first-page":"e0143833","DOI":"10.1371\/journal.pone.0143833","article-title":"Large neutral amino acid supplementation exerts its effect through three synergistic mechanisms: proof of principle in phenylketonuria mice","volume":"10","author":"van Vliet","year":"2015","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B55","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1136\/adc.82.3.236","article-title":"Fits, pyridoxine, and hyperprolinaemia type II","volume":"82","author":"Walker","year":"2000","journal-title":"Arch Dis Child"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B56","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.ymgme.2010.08.003","article-title":"Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox","volume":"101","author":"Wassenberg","year":"2010","journal-title":"Mol Genet Metab"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B57","doi-asserted-by":"crossref","first-page":"5.6.1","DOI":"10.1002\/0471250953.bi0506s47","article-title":"Comparative protein structure modeling using Modeller","volume":"47","author":"Webb","year":"2014","journal-title":"Curr Protoc Bioinformatics"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B58","volume-title":"The zebrafish book: a guide for the laboratory use of zebrafish (Brachydanio rerio)","author":"Westerfield","year":"1993"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B59","doi-asserted-by":"crossref","first-page":"W407","DOI":"10.1093\/nar\/gkm290","article-title":"ProSA-web: interactive web service for the recognition of errors in three-dimensional structures of proteins","volume":"35","author":"Wiederstein","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B60","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0014-5793(01)02236-0","article-title":"The TIM-barrel fold: a versatile framework for efficient enzymes","volume":"492","author":"Wierenga","year":"2001","journal-title":"FEBS Lett"},{"key":"key\n\t\t\t\t2019022703311350800_awy346-B61","doi-asserted-by":"crossref","first-page":"6420","DOI":"10.1038\/srep06420","article-title":"An efficient genotyping method for genome-modified animals and human cells generated with CRISPR\/Cas9 system","volume":"4","author":"Zhu","year":"2014","journal-title":"Sci Rep"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/142\/3\/542\/27986533\/awy346.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T20:52:36Z","timestamp":1662670356000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/142\/3\/542\/5298569"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,21]]},"references-count":61,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,1,21]]},"published-print":{"date-parts":[[2019,3,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awy346","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,3]]},"published":{"date-parts":[[2019,1,21]]}}}