Publications by authors named "Jagdeep Walia"

31Publications

Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders.

Int J Mol Sci 2020 Sep 19;21(18). Epub 2020 Sep 19.

Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 2V5, Canada.

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http://dx.doi.org/10.3390/ijms21186881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555265PMC
September 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review.

Pediatr Transplant 2020 06 23;24(4):e13718. Epub 2020 Apr 23.

Department of Pediatrics, Kingston Health Sciences Center, Queen's University, Kingston, ON, Canada.

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http://dx.doi.org/10.1111/petr.13718DOI Listing
June 2020

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature.

JIMD Rep 2019 Mar 14;46(1):28-34. Epub 2019 Mar 14.

Department of Pediatrics, Division of Medical Genetics Kingston General Hospital Kingston Ontario Canada.

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http://dx.doi.org/10.1002/jmd2.12025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498866PMC
March 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

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http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model.

Mol Ther Methods Clin Dev 2019 Mar 26;12:47-57. Epub 2018 Oct 26.

Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S23290501183010
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http://dx.doi.org/10.1016/j.omtm.2018.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279944PMC
March 2019

Telocytes as possible precursors of PDGFRA-mutant gastrointestinal mesenchymal tumors-reply to rejoinder.

Hum Pathol 2019 02 17;84:337-338. Epub 2018 Oct 17.

Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada M5G 1X5.

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http://dx.doi.org/10.1016/j.humpath.2018.08.036DOI Listing
February 2019

VNUT and VMAT2 segregate within sympathetic varicosities and localize near preferred Cav2 isoforms in the rat tail artery.

Am J Physiol Heart Circ Physiol 2019 01 12;316(1):H89-H105. Epub 2018 Oct 12.

Department of Biomedical Physiology and Kinesiology, Simon Fraser University , Burnaby, British Columbia , Canada.

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http://dx.doi.org/10.1152/ajpheart.00560.2018DOI Listing
January 2019

Telocytes as possible precursors of PDGFRA-mutant gastrointestinal mesenchymal tumors-reply.

Hum Pathol 2018 12 5;82:299-300. Epub 2018 Jul 5.

Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario M5G 1X5.

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http://dx.doi.org/10.1016/j.humpath.2018.04.035DOI Listing
December 2018

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.

Am J Med Genet A 2018 06 25;176(6):1455-1462. Epub 2018 Apr 25.

Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38667DOI Listing
June 2018

Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype.

Hum Pathol 2018 06 25;76:52-57. Epub 2018 Feb 25.

Department of Pathology and Molecular Medicine, Queens University and Kingston General Hospital, Kingston, Ontario, K7L3N6, Canada; Division of Medical Genetics in the Department of Pediatrics, Kingston General Hospital, Kingston, Ontario K7L 2V7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.humpath.2018.02.014DOI Listing
June 2018

Battery of Behavioral Tests Assessing General Locomotion, Muscular Strength, and Coordination in Mice.

J Vis Exp 2018 01 23(131). Epub 2018 Jan 23.

Centre for Neuroscience Studies, Queen's University; Department of Biomedical and Molecular Sciences, Queen's University; Medical Genetics/ Department of Pediatrics, Kingston General Hospital, Centre for Neuroscience Studies, and Department of Biomedical and Molecular Sciences, Queen's University;

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http://dx.doi.org/10.3791/55491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908680PMC
January 2018

PARP Inhibitor Drugs in the Treatment of Breast, Ovarian, Prostate and Pancreatic Cancers: An Update of Clinical Trials.

Curr Drug Targets 2018 ;19(1):21-37

Department of Medical Oncology, Cancer Center of Southeastern Ontario, Queen's University, Kingston, Ontario K7L 3N6, Canada.

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http://dx.doi.org/10.2174/1389450118666170711151518DOI Listing
May 2019

Clinical evaluation of R860Q semi-conservative amino acid substitution in gene in association with long QT syndrome.

Int J Cardiol Heart Vasc 2017 Jun 10;15:21-23. Epub 2017 Apr 10.

Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada.

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http://dx.doi.org/10.1016/j.ijcha.2017.03.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458123PMC
June 2017

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo.

Mol Ther Methods Clin Dev 2016 2;3:15057. Epub 2016 Mar 2.

Genetics and Genome Biology, SickKids, Toronto, Ontario, Canada; Department of Laboratory Medicine and Pathology, University of Toronto, Toronto, Ontario, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S23290501163014
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http://dx.doi.org/10.1038/mtm.2015.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774620PMC
March 2016

Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario.

J Mol Diagn 2016 05;18(3):362-369

Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada; Division of Cancer Biology and Genetics, the Cancer Research Institute, Queen's University, Kingston, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2015.11.007DOI Listing
May 2016

Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates.

Mol Ther 2015 Mar 17;23(3):414-22. Epub 2014 Dec 17.

1] Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada [2] Department of Pediatrics & Child Health, University of Manitoba, Winnipeg, Manitoba, Canada [3] Manitoba Institute of Child Health, Winnipeg, Manitoba, Canada.

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http://dx.doi.org/10.1038/mt.2014.240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351464PMC
March 2015

Relaxin-3 and receptors in the human and rhesus brain and reproductive tissues.

Regul Pept 2010 Jan;159(1-3):44-53

Division of Stem Cell and Developmental Biology, Ontario Cancer Institute, University Health Network (UHN), Toronto, Canada.

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http://dx.doi.org/10.1016/j.regpep.2009.09.007DOI Listing
January 2010

IL-12 immunotherapy of murine leukaemia: comparison of systemic versus gene modified cell therapy.

J Cell Mol Med 2009 Aug;13(8B):1962-76

Ontario Cancer Institute, Princess Margaret Hospital, University Health Network, Toronto, ON, Canada.

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http://dx.doi.org/10.1111/j.1582-4934.2008.00412.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6512371PMC
August 2009

Functional expression of mouse relaxin and mouse relaxin-3 in the lung from an Ebola virus glycoprotein-pseudotyped lentivirus via tracheal delivery.

Endocrinology 2006 Aug 18;147(8):3797-808. Epub 2006 May 18.

Division of Stem Cell and Developmental Biology, Ontario Cancer Institute, University Health Network, Toronto, Ontario, Canada M5G 2M1.

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http://dx.doi.org/10.1210/en.2006-0028DOI Listing
August 2006

Cloning, sequencing and characterization of lentiviral-mediated expression of rhesus macaque (Macaca mulatta) interleukin-2 receptor alpha cDNA.

Dev Comp Immunol 2005 18;29(11):989-1002. Epub 2005 Apr 18.

Division of Experimental Therapeutics, Ontario Cancer Institute, University Health Network, University of Toronto, Toronto, Ont., Canada M5G-2M1.

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http://dx.doi.org/10.1016/j.dci.2005.02.007DOI Listing
September 2005