Fadi F Hamdan

Fadi F Hamdan

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Fadi F Hamdan

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
April 2019

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

Parkinsonism Relat Disord 2019 Apr 11;61:207-210. Epub 2018 Oct 11.

Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183044
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http://dx.doi.org/10.1016/j.parkreldis.2018.10.012DOI Listing
April 2019

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Am J Med Genet A 2018 04 12;176(4):985-991. Epub 2018 Feb 12.

Department of Pediatrics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38628DOI Listing
April 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Am J Hum Genet 2017 May 20;100(5):824-830. Epub 2017 Apr 20.

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, QC H3T 1J4, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173011
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http://dx.doi.org/10.1016/j.ajhg.2017.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420346PMC
May 2017

FHF1 (FGF12) epileptic encephalopathy.

Neurol Genet 2016 Dec 28;2(6):e115. Epub 2016 Oct 28.

Program in Genetics and Genome Biology and Division of Neurology (S.A.-M., B.A.M.), Department of Paediatrics, The Hospital for Sick Children, and University of Toronto, Ontario, Canada; Institute of Genetic Medicine (M.S.), International Centre for Life, Pediatric Neurology (V.R.), Newcastle General Hospital, UK; Center for Human Genetics (S.D., K.D.), UH Case Medical Center, Cleveland, OH; Department of Molecular and Human Genetics (F.X., Y.Y., J.A.R.), Baylor College of Medicine, Houston, TX; Baylor Miraca Genetics Laboratories (F.X., Y.Y.), Houston, TX; The Deciphering Developmental Disorders (DDD) Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK; Division of Neurology (P.C.), CHUM Notre-Dame, Hospital University of Montreal, Quebec, Canada; Department of Pediatrics (J.L.M., P.M.C.), Department of Neurosciences (J.L.M., P.M.C.), Université de Montréal, Québec, Canada; and CHU Sainte-Justine Research Center (J.L.M., F.A.H., P.M.C.), Montreal, Quebec, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5087254PMC
December 2016

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.

Am J Med Genet A 2016 11;170(11):2916-2926

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37669DOI Listing
November 2016

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

Eur J Med Genet 2015 Dec 11;58(12):637-41. Epub 2015 Nov 11.

Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.005DOI Listing
December 2015

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.

Hum Mutat 2015 Aug 22;36(8):753-7. Epub 2015 Jun 22.

CHU Sainte-Justine Research Center, Montreal, Canada.

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http://dx.doi.org/10.1002/humu.22797DOI Listing
August 2015

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

J Med Genet 2015 May 3;52(5):303-11. Epub 2015 Feb 3.

CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada Department of Neurosciences, Université de Montréal, Montreal, Canada Department of Pediatrics, Université de Montréal, Montreal, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2014-102952DOI Listing
May 2015

The genetic landscape of infantile spasms.

Hum Mol Genet 2014 Sep 29;23(18):4846-58. Epub 2014 Apr 29.

Department of Pediatrics and Department of Neurosciences, Université de Montréal, Montréal, QC, Canada, CHU Ste-Justine Research Center, Montréal, QC, Canada,

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu199DOI Listing
September 2014

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Eur J Hum Genet 2014 Jun 20;22(6):792-800. Epub 2013 Nov 20.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Child & Family Research Institute, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023222PMC
June 2014

CNIH4 interacts with newly synthesized GPCR and controls their export from the endoplasmic reticulum.

Traffic 2014 Apr 6;15(4):383-400. Epub 2014 Feb 6.

Institute for Research in Immunology and Cancer, Université de Montréal, Montréal, Canada; Department of Biochemistry, Université de Montréal, Montréal, Canada.

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http://dx.doi.org/10.1111/tra.12148DOI Listing
April 2014

De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability.

Eur J Med Genet 2013 Dec 24;56(12):686-8. Epub 2013 Oct 24.

Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Health Center, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2013.10.003DOI Listing
December 2013

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

J Med Genet 2012 Oct 25;49(10):636-41. Epub 2012 Sep 25.

Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1136/jmedgenet-2012-101132DOI Listing
October 2012

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.

Eur J Hum Genet 2012 Jul 18;20(7):796-800. Epub 2012 Jan 18.

Centre of Excellence in Neuroscience of Université de Montréal, Centre de Recherche du CHU Sainte-Justine, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1038/ejhg.2011.271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376261PMC
July 2012

Homozygous deletion of Tenascin-R in a patient with intellectual disability.

J Med Genet 2012 Jul 22;49(7):451-4. Epub 2012 Jun 22.

Division of Pediatric Neurology, Departments of Neurology/Neurosurgery, McGill University, Montreal Children’s Hospital-McGill University Health Center, Quebec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2012-100831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395313PMC
July 2012

A strategy to identify de novo mutations in common disorders such as autism and schizophrenia.

J Vis Exp 2011 Jun 15(52). Epub 2011 Jun 15.

Centre of Excellence in Neuromics, CHUM Research Center and the Department of Medicine, Universite de Montreal.

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http://dx.doi.org/10.3791/2534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197027PMC
June 2011

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Biol Psychiatry 2011 May 15;69(9):898-901. Epub 2011 Jan 15.

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease, S2D, Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Montréal, Canada.

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http://dx.doi.org/10.1016/j.biopsych.2010.11.015DOI Listing
May 2011

Intellectual disability without epilepsy associated with STXBP1 disruption.

Eur J Hum Genet 2011 May 2;19(5):607-9. Epub 2011 Mar 2.

The Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease (S2D) group, Montréal, Quebec, Canada.

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http://www.nature.com/articles/ejhg2010183
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http://dx.doi.org/10.1038/ejhg.2010.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083607PMC
May 2011

M3-muscarinic receptor promotes insulin release via receptor phosphorylation/arrestin-dependent activation of protein kinase D1.

Proc Natl Acad Sci U S A 2010 Dec 15;107(49):21181-6. Epub 2010 Nov 15.

Department of Cell Physiology and Pharmacology, and Biomedical Services Division, University of Leicester, Leicester LE1 9HN, United Kingdom.

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http://dx.doi.org/10.1073/pnas.1011651107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000281PMC
December 2010

De novo truncating mutation in Kinesin 17 associated with schizophrenia.

Biol Psychiatry 2010 Oct 19;68(7):649-56. Epub 2010 Jun 19.

Department of Medicine, Center of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montreal Research Center, University of Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.biopsych.2010.04.018DOI Listing
October 2010

[De novo mutations in SYNGAP1 associated with non-syndromic mental retardation].

Med Sci (Paris) 2010 Feb;26(2):133-5

Centre d'excellence en neuromique de l'Université de Montréal, Centre de recherche, Montréal, H3T 1C5 Canada.

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http://dx.doi.org/10.1051/medsci/2010262133DOI Listing
February 2010

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Ann Neurol 2009 Jun;65(6):748-53

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ana.21625DOI Listing
June 2009

Novel de novo SHANK3 mutation in autistic patients.

Am J Med Genet B Neuropsychiatr Genet 2009 Apr;150B(3):421-4

Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Notre-Dame Hospital, Université de Montréal, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/ajmg.b.30822DOI Listing
April 2009

Neuronal M3 muscarinic acetylcholine receptors are essential for somatotroph proliferation and normal somatic growth.

Proc Natl Acad Sci U S A 2009 Apr 30;106(15):6398-403. Epub 2009 Mar 30.

Molecular Signaling Section, Laboratory of Bioorganic Chemistry, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.0900977106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2662962PMC
April 2009

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Hum Mol Genet 2008 Dec 18;17(24):3965-74. Epub 2008 Sep 18.

Centre for Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Montreal, QC, Canada H2L 4M1.

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http://dx.doi.org/10.1093/hmg/ddn300DOI Listing
December 2008

Metabolic roles of the M3 muscarinic acetylcholine receptor studied with M3 receptor mutant mice: a review.

J Recept Signal Transduct Res 2008 ;28(1-2):93-108

Molecular Signaling Section, Laboratory of Bioorganic Chemistry, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892-0810, USA.

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http://www.tandfonline.com/doi/full/10.1080/1079989080194200
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http://dx.doi.org/10.1080/10799890801942002 DOI Listing
August 2008

Ligand-specific changes in M3 muscarinic acetylcholine receptor structure detected by a disulfide scanning strategy.

Biochemistry 2008 Mar 5;47(9):2776-88. Epub 2008 Feb 5.

Molecular Signaling Section, Laboratory of Bioorganic Chemistry, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), 8 Center Drive, Bethesda, Maryland 20892-0810, USA.

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http://dx.doi.org/10.1021/bi7019113DOI Listing
March 2008

Unraveling G protein-coupled receptor endocytosis pathways using real-time monitoring of agonist-promoted interaction between beta-arrestins and AP-2.

J Biol Chem 2007 Oct 3;282(40):29089-100. Epub 2007 Aug 3.

Department of Biochemistry, Groupe de Recherche Universitaire sur le Médicament, Institute for Research in Immunology and Cancer, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1074/jbc.M700577200DOI Listing
October 2007

Distinct structural changes in a G protein-coupled receptor caused by different classes of agonist ligands.

J Biol Chem 2007 Sep 10;282(36):26284-93. Epub 2007 Jul 10.

Molecular Signaling Section, Laboratory of Bioorganic Chemistry, NIDDK, National Institutes of Health, Bethesda, Maryland 20892-0810, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M704875200
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http://dx.doi.org/10.1074/jbc.M704875200DOI Listing
September 2007

Src-dependent phosphorylation of beta2-adaptin dissociates the beta-arrestin-AP-2 complex.

J Cell Sci 2007 May 24;120(Pt 10):1723-32. Epub 2007 Apr 24.

Hormones and Cancer Research Unit, Department of Medicine, Royal Victoria Hospital, Montréal, QC, H3A 1A1, Canada.

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http://dx.doi.org/10.1242/jcs.03444DOI Listing
May 2007

A critical role for beta cell M3 muscarinic acetylcholine receptors in regulating insulin release and blood glucose homeostasis in vivo.

Cell Metab 2006 Jun;3(6):449-61

Molecular Signaling Section, Laboratory of Bioorganic Chemistry, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S155041310600128
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http://dx.doi.org/10.1016/j.cmet.2006.04.009DOI Listing
June 2006

Monitoring protein-protein interactions in living cells by bioluminescence resonance energy transfer (BRET).

Curr Protoc Neurosci 2006 Feb;Chapter 5:Unit 5.23

University of Montreal, Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/0471142301.ns0523s34
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http://dx.doi.org/10.1002/0471142301.ns0523s34DOI Listing
February 2006

Use of an in situ disulfide cross-linking strategy to study the dynamic properties of the cytoplasmic end of transmembrane domain VI of the M3 muscarinic acetylcholine receptor.

Biochemistry 2006 Jan;45(3):676-85

Molecular Signaling Section, Laboratory of Bioorganic Chemistry, National Institute of Diabetes and Digestive and Kidney Diseases, 8 Center Drive, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1021/bi051503qDOI Listing
January 2006

Identification of an agonist-induced conformational change occurring adjacent to the ligand-binding pocket of the M(3) muscarinic acetylcholine receptor.

J Biol Chem 2005 Oct 10;280(41):34849-58. Epub 2005 Aug 10.

Molecular Signaling and Molecular Recognition Sections, Laboratory of Bioorganic Chemistry, NIDDK, National Institutes of Health, Bethesda, Maryland 20892-0810, USA.

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http://dx.doi.org/10.1074/jbc.M506711200DOI Listing
October 2005

Pronounced conformational changes following agonist activation of the M(3) muscarinic acetylcholine receptor.

J Biol Chem 2005 Jul 2;280(26):24870-9. Epub 2005 May 2.

Molecular Signaling Section, Laboratory of Bioorganic Chemistry, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1074/jbc.M500379200DOI Listing
July 2005

Use of an in situ disulfide cross-linking strategy to map proximities between amino acid residues in transmembrane domains I and VII of the M3 muscarinic acetylcholine receptor.

Biochemistry 2002 Jun;41(24):7647-58

Laboratory of Bioorganic Chemistry, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 8 Center Drive, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1021/bi016029cDOI Listing
June 2002

Codon optimization improves heterologous expression of a Schistosoma mansoni cDNA in HEK293 cells.

Parasitol Res 2002 Jun 16;88(6):583-6. Epub 2002 Feb 16.

Institute of Parasitology, McGill University, 21, 111 Lakeshore Road, Ste. Anne de Bellevue, Quebec H9X 3V9, Canada.

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http://link.springer.com/10.1007/s00436-001-0585-0
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http://dx.doi.org/10.1007/s00436-001-0585-0DOI Listing
June 2002

A Schistosoma mansoni Pad1 homologue stabilizes c-Jun.

Mol Biochem Parasitol 2002 Apr;121(1):163-72

Institute of Parasitology, McGill University, Ste. Anne de Bellevue, Québec, Canada.

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http://dx.doi.org/10.1016/s0166-6851(01)00450-9DOI Listing
April 2002

Conformational changes that occur during M3 muscarinic acetylcholine receptor activation probed by the use of an in situ disulfide cross-linking strategy.

J Biol Chem 2002 Jan 6;277(3):2247-57. Epub 2001 Nov 6.

Laboratory of Bioorganic Chemistry, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1074/jbc.M107647200DOI Listing
January 2002

A novel Schistosoma mansoni G protein-coupled receptor is responsive to histamine.

Mol Biochem Parasitol 2002 Jan;119(1):75-86

Institute of Parasitology, McGill University, 21,111 Lakeshore Road, Que., H9X 3V9, Ste. Anne de Bellevue, Canada.

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http://dx.doi.org/10.1016/s0166-6851(01)00400-5DOI Listing
January 2002