Grant A Mitchell

Grant A Mitchell

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Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13.

J Pediatr Intensive Care 2020 Mar 10;9(1):54-59. Epub 2019 Oct 10.

Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Canada.

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http://dx.doi.org/10.1055/s-0039-1697620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978174PMC
March 2020

Inborn errors of mitochondrial acyl-coenzyme a metabolism: acyl-CoA biology meets the clinic.

Mol Genet Metab 2019 Sep - Oct;128(1-2):30-44. Epub 2019 May 9.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.05.002DOI Listing
May 2019

An Epistatic Interaction between and Reveals New Pathways of Adipose Tissue Lipolysis.

Cells 2019 04 29;8(5). Epub 2019 Apr 29.

Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.

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http://dx.doi.org/10.3390/cells8050395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563012PMC
April 2019

Hereditary diseases of coenzyme A thioester metabolism.

Biochem Soc Trans 2019 02 9;47(1):149-155. Epub 2019 Jan 9.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, QC, Canada

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http://dx.doi.org/10.1042/BST20180423DOI Listing
February 2019

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient alleles.

Mol Genet Metab Rep 2018 Mar 27;14:55-58. Epub 2017 Dec 27.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2017.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758842PMC
March 2018

Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine.

Adv Exp Med Biol 2017 ;959:67-73

Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada.

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http://dx.doi.org/10.1007/978-3-319-55780-9_5DOI Listing
December 2017

The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.

Adv Exp Med Biol 2017 ;959:75-83

Departments of Nutrition (MB) and Radiology (JD), Divisions of Gastroenterology, Hepatology and Nutrition (FA, UH), Medical Genetics (CBG, MG, GAM) and Nephrology (AM, VP), Department of Pediatrics and Department of Pharmacy (SA, JFB), CHU Sainte-Justine and Université de Montréal, Montreal, Canada.

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http://dx.doi.org/10.1007/978-3-319-55780-9_6DOI Listing
December 2017

Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint.

Adv Exp Med Biol 2017 ;959:205-213

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, QC, Canada.

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http://dx.doi.org/10.1007/978-3-319-55780-9_19DOI Listing
December 2017

Adipose tissue deficiency of hormone-sensitive lipase causes fatty liver in mice.

PLoS Genet 2017 12 12;13(12):e1007110. Epub 2017 Dec 12.

College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.

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http://dx.doi.org/10.1371/journal.pgen.1007110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741266PMC
December 2017

Reply.

J Pediatr 2017 08 24;187:334-335. Epub 2017 May 24.

Division of Endocrinology and Research Center CHU Sainte-Justine; Department of Pediatrics Université de Montréal Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2017.04.067DOI Listing
August 2017

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Mol Genet Metab 2017 07 22;121(3):206-215. Epub 2017 May 22.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Division of Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics & Biochemistry, Department of Natural Sciences, University of Applied Sciences, Rheinbach, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.014DOI Listing
July 2017

Premature Ovarian Failure in French Canadian Leigh Syndrome.

J Pediatr 2017 05 8;184:227-229.e1. Epub 2017 Mar 8.

Division of Endocrinology and Research Center, CHU Sainte-Justine, Montréal, Québec, Canada; Centre de Santé et de Services Sociaux de Chicoutimi, Chicoutimi, Québec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.02.008DOI Listing
May 2017

Epistatic interaction between the lipase-encoding genes Pnpla2 and Lipe causes liposarcoma in mice.

PLoS Genet 2017 May 1;13(5):e1006716. Epub 2017 May 1.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1371/journal.pgen.1006716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432192PMC
May 2017

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

J Med Genet 2017 04 22;54(4):241-247. Epub 2016 Nov 22.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2016-104289DOI Listing
April 2017

A Class of Reactive Acyl-CoA Species Reveals the Non-enzymatic Origins of Protein Acylation.

Cell Metab 2017 Apr;25(4):823-837.e8

Sarah W. Stedman Nutrition and Metabolism Center, Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA; Division of Endocrinology, Metabolism, and Nutrition, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA; Department of Pharmacology & Cancer Biology, Duke University Medical Center, Durham, NC 27710, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2017.03.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399522PMC
April 2017

Adipose-Specific Deficiency of Fumarate Hydratase in Mice Protects Against Obesity, Hepatic Steatosis, and Insulin Resistance.

Diabetes 2016 Nov 23;65(11):3396-3409. Epub 2016 Aug 23.

Division of Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte-Justine, Montreal, Quebec, Canada

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http://dx.doi.org/10.2337/db16-0136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860441PMC
November 2016

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

J Inherit Metab Dis 2016 Mar 21;39(2):173-88. Epub 2015 Dec 21.

Division of Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte-Justine, 3175 Côte Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1007/s10545-015-9903-zDOI Listing
March 2016

Potential mechanism underlying the PNPLA3(I) (148) (M) -Hepatic steatosis connection.

Hepatology 2016 Feb 30;63(2):676-7. Epub 2015 Jul 30.

Division of Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte-Justine, Montréal, QC, Canada.

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http://dx.doi.org/10.1002/hep.27943DOI Listing
February 2016

Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.

Can J Cardiol 2016 Jan 13;32(1):135.e1-7. Epub 2015 Apr 13.

Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cjca.2015.04.004DOI Listing
January 2016

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

JIMD Rep 2015 12;22:67-75. Epub 2015 Mar 12.

Divisions of Medical Genetics (AL, AML, CBG, GM) and Neurology (PD, ER), Department of Paediatrics, Biochemical Genetics Laboratory (CBG, PA), CHU Sainte-Justine and Université de Montréal, 3175 Côte-Sainte-Catherine, Montreal, QC, Canada, H3T 1C5.

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http://dx.doi.org/10.1007/8904_2015_413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486275PMC
July 2015

Inborn errors of cytoplasmic triglyceride metabolism.

J Inherit Metab Dis 2015 Jan 10;38(1):85-98. Epub 2014 Oct 10.

Division of Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte-Justine, 3175 Côte Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1007/s10545-014-9767-7DOI Listing
January 2015

Metabolism as a tool for understanding human brain evolution: lipid energy metabolism as an example.

J Hum Evol 2014 Dec 6;77:41-9. Epub 2014 Dec 6.

Division of Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte-Justine, 3175 Côte Sainte-Catherine, Montreal H3T 1C5, QC, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00472484140022
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http://dx.doi.org/10.1016/j.jhevol.2014.06.013DOI Listing
December 2014

The catalytic function of hormone-sensitive lipase is essential for fertility in male mice.

Endocrinology 2014 Aug 5;155(8):3047-53. Epub 2014 May 5.

Divisions of Medical Genetics (S.P.W., J.W.W., H.B., S.C., G.A.M.) and Hematology (J.F.L., D.L.), Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and Faculty of Medicine, Université de Montréal, Montréal, Québec, Canada, H3T 1C5; Valeant Cosméderme (H.B.), Laval, Québec, Canada, H7V 0A3; Centre for Molecular Medicine and Therapeutics (B.R.L.), Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada, V5Z 4H4; Department of Pediatrics (J.T.), Human Genetics and Pharmacology and Therapeutics, McGill University and Research Institute of the McGill University Health Centre at the Montreal Children's Hospital, Montréal, Québec, Canada, H3H 1P3; and Department of Anatomy and Cell Biology (C.E.S., L.H.), McGill University, Montréal, Québec, Canada, H3A 2B2.

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http://dx.doi.org/10.1210/en.2014-1031DOI Listing
August 2014

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Mol Genet Metab 2013 Sep-Oct;110(1-2):129-38. Epub 2013 Jun 26.

Department of Endocrinology, Metabolism & Genetics, Vietnam National Hospital of Pediatrics, Hanoi, Viet Nam.

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http://dx.doi.org/10.1016/j.ymgme.2013.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3779837PMC
March 2014

Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.

Ophthalmology 2014 Jan 11;121(1):381-386. Epub 2013 Oct 11.

Department of Ophthalmology, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.08.034DOI Listing
January 2014

Positive regulation of insulin signaling by neuraminidase 1.

Diabetes 2013 Jul 21;62(7):2338-46. Epub 2013 Mar 21.

Division of Medical Genetics, Sainte-Justine University Hospital Research Center, University of Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.2337/db12-1825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712076PMC
July 2013

A treatable new cause of chorea: beta-ketothiolase deficiency.

Mov Disord 2013 Jul 1;28(8):1054-6. Epub 2013 Jul 1.

Department of Medical Genetics, Montreal Children's Hospital, Montréal, Quebéc, Canada.

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http://dx.doi.org/10.1002/mds.25538DOI Listing
July 2013

Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase.

Endocrinology 2012 May 28;153(5):2198-207. Epub 2012 Feb 28.

Division of Medical Genetics, Department of Pediatrics, Université de Montréal and Centre Hospitalier Universitaire Sainte-Justine, 3175 Côte-Sainte-Catherine, Montréal, Québec, Canada.

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http://dx.doi.org/10.1210/en.2011-1518DOI Listing
May 2012

Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.

Clin Biochem 2012 Jan 7;45(1-2):88-91. Epub 2011 Nov 7.

Department of Genetics, CHUS and Université de Sherbrooke, Sherbrooke, Québec, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S000991201102705
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http://dx.doi.org/10.1016/j.clinbiochem.2011.10.019DOI Listing
January 2012

Deficiency of liver adipose triglyceride lipase in mice causes progressive hepatic steatosis.

Hepatology 2011 Jul;54(1):122-32

Laboratory of Animal Fat Deposition and Muscle Development, College of Animal Science and Technology, Northwest A & F University, Yangling, Shaanxi, China.

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http://dx.doi.org/10.1002/hep.24338DOI Listing
July 2011

Treatment of cobalamin C (cblC) deficiency during pregnancy.

J Inherit Metab Dis 2010 Dec 10;33 Suppl 3:S409-12. Epub 2010 Sep 10.

Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and Université de Montréal, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Quebec, Canada H3T 1C5.

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http://link.springer.com/10.1007/s10545-010-9202-7
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http://dx.doi.org/10.1007/s10545-010-9202-7DOI Listing
December 2010

Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.

J Child Neurol 2010 Aug 14;25(8):1000-2. Epub 2010 May 14.

Department of Human Genetics, CHU and University of Liège, Liège, Belgium.

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http://dx.doi.org/10.1177/0883073809351983DOI Listing
August 2010

An infant with mucolipidosis-II and an atretic orifice of the left coronary artery.

Cardiol Young 2010 Feb 14;20(1):97-9. Epub 2009 Oct 14.

Division of Pediatric Cardiology, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec.

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http://dx.doi.org/10.1017/S1047951109991843DOI Listing
February 2010

Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.

Exp Cell Res 2009 Nov 2;315(18):3086-98. Epub 2009 Sep 2.

Génétique Médicale, Centre de Recherche CHU Sainte-Justine, Département de Pédiatrie, Université de Montréal, Montréal, QC, Canada.

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http://dx.doi.org/10.1016/j.yexcr.2009.08.017DOI Listing
November 2009

The stoichiometry of protein phosphorylation in adipocyte lipid droplets: analysis by N-terminal isotope tagging and enzymatic dephosphorylation.

Proteomics 2009 Nov;9(22):5067-77

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, 3175 Côte Ste-Catherine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/pmic.200800861DOI Listing
November 2009

Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type.

Prenat Diagn 2009 Mar;29(3):266-70

Medical Genetics Division, Department of Pediatrics, Université de Montréal, Centre Hospitalier Universitaire Sainte-Justine, 3175 Côte Sainte-Catherine, Montréal, Québec H3T-1C5 Canada.

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http://dx.doi.org/10.1002/pd.2218DOI Listing
March 2009

Lipolysis and the integrated physiology of lipid energy metabolism.

Mol Genet Metab 2008 Nov 31;95(3):117-26. Epub 2008 Aug 31.

Division of Medical Genetics, CHU Sainte-Justine, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2008.06.012DOI Listing
November 2008

Disorders of mitochondrial function.

Curr Opin Pediatr 2008 Aug;20(4):471-82

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Sainte-Catherine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1097/MOP.0b013e328306ebb6DOI Listing
August 2008

Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase.

Tohoku J Exp Med 2008 Jul;215(3):227-36

Department of Pediatrics, Graduate School of Medicine Gifu University, Japan.

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http://dx.doi.org/10.1620/tjem.215.227DOI Listing
July 2008

Hereditary and acquired diseases of acyl-coenzyme A metabolism.

Mol Genet Metab 2008 May 11;94(1):4-15. Epub 2008 Mar 11.

Division of Medical Genetics, CHU Sainte-Justine, 3175 Côte Sainte-Catherine Road, Montréal, Que., Canada H1R 2A6.

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http://dx.doi.org/10.1016/j.ymgme.2007.12.005DOI Listing
May 2008

Acute tubular dysfunction with Fanconi syndrome: a new manifestation of mitochondrial cytopathies.

Am J Kidney Dis 2008 Apr;51(4):691-6

Division of Medical Genetics, Department of Pediatrics, Montreal Children Hospital, McGill University, Montreal, Québec, Canada.

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http://dx.doi.org/10.1053/j.ajkd.2007.11.024DOI Listing
April 2008

[North American Indian childhood cirrhosis (NAIC)].

Med Sci (Paris) 2007 Nov;23(11):1002-7

Services de Génétique Médicale et de Gastroentérologie, Hôpital Sainte Justine, Département de Pédiatrie, Université de Montréal, 3175, chemin de la Côte Sainte-Catherine, Montréal (Québec) H3T 1C5, Canada.

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http://dx.doi.org/10.1051/medsci/200723111002DOI Listing
November 2007

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.

Am J Med Genet A 2007 Sep;143A(17):2046-51

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Côte-Sainte-Catherine, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31880DOI Listing
September 2007

Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.

Clin Chem 2007 May 23;53(5):916-21. Epub 2007 Mar 23.

Department of Pediatrics, Ste-Justine Hospital, Université de Montréal, Montreal, Quebec, Canada.

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2006.081166
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http://dx.doi.org/10.1373/clinchem.2006.081166DOI Listing
May 2007

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.

Pediatrics 2007 Apr;119(4):722-33

Medical Genetics Division, Centre Hospitalier Universitaire Sainte-Justine, Université de Montreal, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1542/peds.2006-1866DOI Listing
April 2007

Recurrent pancreatitis in mitochondrial cytopathy.

Am J Med Genet A 2006 Nov;140(21):2330-5

Division of Medical Genetics, Hôpital Sainte-Justine, Montreal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31457DOI Listing
November 2006

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

Eur J Pediatr 2006 Jul 22;165(7):462-6. Epub 2006 Mar 22.

Division of Medical Genetics, CHU Sainte-Justine, Université de Montréal, 3175 Côte Sainte-Catherine, Montreal, Québec, H3T 1C5, Canada.

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http://dx.doi.org/10.1007/s00431-006-0104-5DOI Listing
July 2006

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

Mol Genet Metab 2006 May 31;88(1):16-21. Epub 2006 Jan 31.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.12.005DOI Listing
May 2006

Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.

Exp Cell Res 2005 Dec 12;311(2):218-28. Epub 2005 Oct 12.

Service de Génétique médicale, Centre de recherche, Hôpital Sainte-Justine, Université de Montréal, 3175 Côte Sainte-Catherine, Québec, Canada H3T1C5.

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http://dx.doi.org/10.1016/j.yexcr.2005.08.012DOI Listing
December 2005

Human hormone-sensitive lipase (HSL): expression in white fat corrects the white adipose phenotype of HSL-deficient mice.

J Lipid Res 2005 Sep 16;46(9):1860-7. Epub 2005 Jun 16.

Division of Medical Genetics, Research Centre, Sainte-Justine Hospital, Montréal, Québec, Canada.

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http://dx.doi.org/10.1194/jlr.M500081-JLR200DOI Listing
September 2005

Hormone-sensitive lipase knockout mice have increased hepatic insulin sensitivity and are protected from short-term diet-induced insulin resistance in skeletal muscle and heart.

Am J Physiol Endocrinol Metab 2005 Jul 8;289(1):E30-9. Epub 2005 Feb 8.

Department of Internal Medicine, Section of Endocrinology and Metabolism, Yale University School of Medicine, New Haven, CT 06520-8020, USA.

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http://dx.doi.org/10.1152/ajpendo.00251.2004DOI Listing
July 2005

Expression of human hormone-sensitive lipase (HSL) in postmeiotic germ cells confers normal fertility to HSL-deficient mice.

Endocrinology 2004 Dec 2;145(12):5688-93. Epub 2004 Sep 2.

Service of Medical Genetics, Hôpital Sainte-Justine, Montréal, Québec, Canada.

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https://academic.oup.com/endo/article-lookup/doi/10.1210/en.
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http://dx.doi.org/10.1210/en.2004-0919DOI Listing
December 2004

Carboxylesterase 3 (EC 3.1.1.1) is a major adipocyte lipase.

J Biol Chem 2004 Sep 25;279(39):40683-9. Epub 2004 Jun 25.

Division of Medical Genetics, Ste-Justine Hospital, Montréal, Québec H3T 1C5, Canada.

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http://dx.doi.org/10.1074/jbc.M400541200DOI Listing
September 2004

L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2.

Am J Physiol Cell Physiol 2004 Aug;287(2):C263-9

Division of Medical Genetics, Hôpital Sainte-Justine, Université de Montréal, 3175 Côte Sainte-Catherine, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1152/ajpcell.00333.2003DOI Listing
August 2004

Hormone-sensitive lipase-independent adipocyte lipolysis during beta-adrenergic stimulation, fasting, and dietary fat loading.

Am J Physiol Endocrinol Metab 2004 Aug;287(2):E282-8

Division of Medical Genetics, Research Centre, Hôpital Ste.-Justine, Montreal, Quebec H3T 1C5, Canada.

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http://www.physiology.org/doi/10.1152/ajpendo.00203.2003
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http://dx.doi.org/10.1152/ajpendo.00203.2003DOI Listing
August 2004

Hormone-sensitive lipase has a role in lipid signaling for insulin secretion but is nonessential for the incretin action of glucagon-like peptide 1.

Diabetes 2004 Jul;53(7):1733-42

Molecular Nutrition Unit, Department of Nutrition, University of Montréal and the Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.2337/diabetes.53.7.1733DOI Listing
July 2004

Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization.

Biochemistry 2004 May;43(18):5287-95

Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA.

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http://dx.doi.org/10.1021/bi0499765DOI Listing
May 2004

Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry.

Prostaglandins Leukot Essent Fatty Acids 2004 Mar;70(3):243-51

Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S09523278030021
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http://dx.doi.org/10.1016/j.plefa.2003.11.001DOI Listing
March 2004

Long-term follow-up of a new case of liver glycogen synthase deficiency.

Am J Med Genet A 2003 Jul;120A(1):19-22

Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, 3175 Côte-Ste-Catherine, Montreal, Quebec, Canada H3T 1C5.

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http://doi.wiley.com/10.1002/ajmg.a.20110
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http://dx.doi.org/10.1002/ajmg.a.20110DOI Listing
July 2003

Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells.

Am J Physiol Gastrointest Liver Physiol 2003 May 10;284(5):G863-71. Epub 2003 Jan 10.

Divisions of Medical Genetics and Gastroenterology, Research Center, Hôpital Sainte-Justine, Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1152/ajpgi.00220.2002DOI Listing
May 2003

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Proc Natl Acad Sci U S A 2003 Jan 14;100(2):605-10. Epub 2003 Jan 14.

Whitehead Institute/Massachusetts Institute of Technology Center for Genome Research, One Kendall Square, Building 300, Cambridge, MA 02139, USA.

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http://dx.doi.org/10.1073/pnas.242716699DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC141043PMC
January 2003

A heterozygote phenotype is present in the jvs +/- mutant mouse livers.

Mol Genet Metab 2002 May;76(1):76-80

Division of Medical Genetics, Hĵpital Sainte-Justine, Montreal, Que., Canada.

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http://dx.doi.org/10.1016/s1096-7192(02)00017-3DOI Listing
May 2002

L-Carnitine transport in mouse renal and intestinal brush-border and basolateral membrane vesicles.

Biochim Biophys Acta 2002 Jan;1558(1):82-93

Division of Medical Genetics, Hôpital Sainte-Justine, 3175 Cote Sainte-Catherine, H3T 1C5, Montreal, QC, Canada.

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http://dx.doi.org/10.1016/s0005-2736(01)00433-3DOI Listing
January 2002