Publications by authors named "Sandra T Cooper"

60Publications

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.

Neuromuscul Disord 2020 04 14;30(4):310-314. Epub 2020 Feb 14.

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. Electronic address:

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April 2020

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.

Neuromuscul Disord 2019 12 25;29(12):913-919. Epub 2019 Sep 25.

Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales 2145, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia. Electronic address:

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December 2019

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Am J Hum Genet 2019 09 22;105(3):573-587. Epub 2019 Aug 22.

Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; The Children's Medical Research Institute, 214 Hawkesbury Road, Sydney, NSW 2145, Australia. Electronic address:

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September 2019

Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function.

J Cachexia Sarcopenia Muscle 2019 12 21;10(6):1228-1240. Epub 2019 Jun 21.

Department of Diabetes and Endocrinology, Westmead Hospital, Sydney, New South Wales, Australia.

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December 2019

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.

NPJ Genom Med 2019 15;4. Epub 2019 Apr 15.

1Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Sydney, NSW 2145 Australia.

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April 2019

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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June 2018

Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P.

J Biol Chem 2017 11 13;292(45):18577-18591. Epub 2017 Sep 13.

From the Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Locked Bag 4001, Westmead 2145, Australia,

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November 2017

Ca and mitochondrial ROS: Both hero and villain in membrane repair.

Authors:
Sandra T Cooper

Sci Signal 2017 09 5;10(495). Epub 2017 Sep 5.

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia.

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September 2017

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

Pract Neurol 2017 Aug 22;17(4):327-331. Epub 2017 Apr 22.

Department of Neurology, Auckland City Hospital, Auckland, New Zealand.

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August 2017

Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling.

Cell Signal 2017 05 10;33:30-40. Epub 2017 Feb 10.

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, Faculty of Medicine, University of Sydney, Sydney, Australia. Electronic address:

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May 2017

Dopamine-2 receptor extracellular N-terminus regulates receptor surface availability and is the target of human pathogenic antibodies from children with movement and psychiatric disorders.

Acta Neuropathol Commun 2016 12 1;4(1):126. Epub 2016 Dec 1.

Brain Autoimmunity group, Institute for Neuroscience and Muscle Research, The Kids Research Institute at the Children's Hospital at Westmead, University of Sydney, Westmead, NSW, 2145, Australia.

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December 2016

The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus.

Front Physiol 2016 7;7:454. Epub 2016 Oct 7.

Department of Physiology and Biophysics, University of Illinois at Chicago Chicago, IL, USA.

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October 2016

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

Neurology 2016 Oct 2;87(14):1442-1448. Epub 2016 Sep 2.

From the Institute for Neuroscience and Muscle Research (G.L.O., M.Y., N.P., H.A.B., T.B.D., K.N.N., N.F.C., S.T.C.), Kids Research Institute, T.Y. Department of Neurology (M.M., R.W.), and Heart Centre for Children (C.T.), Children's Hospital at Westmead, Sydney; Discipline of Paediatrics and Child Health (G.L.O., M.M., H.A.B., K.N.N., N.F.C., S.T.C.), Faculty of Medicine, University of Sydney, Australia; Departments of Genetics (C.V.) and Child Neurology (J.M.F.), University of Groningen University Medical Center Groningen, the Netherlands; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; Broad Institute of Harvard and Massachusetts Institute of Technology (M.L., D.G.M.), Cambridge; Department of Neurology (A.G.E.), Mayo Clinic, Rochester, MN; Murdoch Children's Research Institute (K.N.N.), Royal Children's Hospital, Victoria, Australia; and Department of Human Genetics (E.-J.K.), Radboud University Medical Center, Nijmegen, the Netherlands.

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October 2016

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Neuromuscul Disord 2016 08 24;26(8):500-3. Epub 2016 May 24.

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW 2006, Australia. Electronic address:

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August 2016

Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.

Cardiovasc Res 2016 May 19;110(2):178-87. Epub 2016 Jan 19.

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Locked Bag 4001, Westmead 2145, Australia Discipline of Paediatrics and Child Health, University of Sydney, Children's Hospital at Westmead Clinical School, Westmead 2145, Australia.

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May 2016

Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans-Golgi/Recycling Ferlins.

Traffic 2016 Mar;17(3):245-66

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, Australia.

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March 2016

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

JAMA Neurol 2015 Dec;72(12):1424-32

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia2Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales.

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December 2015

Membrane Repair: Mechanisms and Pathophysiology.

Physiol Rev 2015 Oct;95(4):1205-40

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia; and Department of Cellular Biology and Anatomy, Institute of Molecular Medicine and Genetics, Georgia Regents University, Augusta, Georgia.

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October 2015

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Hum Mol Genet 2015 Nov 24;24(22):6278-92. Epub 2015 Aug 24.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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November 2015

Membrane Injury and Repair in the Muscular Dystrophies.

Neuroscientist 2015 Dec 18;21(6):653-68. Epub 2014 Nov 18.

School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia.

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December 2015

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

PLoS One 2014 12;9(8):e104879. Epub 2014 Aug 12.

Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia; Departments of Integrative Systems Biology and Pediatrics, George Washington University School of Medicine, Washington, D.C., United States of America.

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April 2016

Alternate splicing of dysferlin C2A confers Ca²⁺-dependent and Ca²⁺-independent binding for membrane repair.

Structure 2014 Jan 14;22(1):104-15. Epub 2013 Nov 14.

Department of Cell Physiology and Molecular Biophysics, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA; Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA. Electronic address:

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January 2014

Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair.

Traffic 2012 Feb 6;13(2):185-94. Epub 2011 Sep 6.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW 2145, Australia.

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February 2012

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.

Muscle Nerve 2011 Aug;44(2):280-2

Institute for Neuroscience and Muscle Research, Discipline of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Locked Bag 4001, Westmead, New South Wales 2145, Australia.

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August 2011

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

BMC Evol Biol 2010 Jul 29;10:231. Epub 2010 Jul 29.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, Australia.

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July 2010

Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway.

J Biol Chem 2010 Sep 1;285(37):28529-39. Epub 2010 Jul 1.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia.

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September 2010

In vitro analysis of rod composition and actin dynamics in inherited myopathies.

J Neuropathol Exp Neurol 2010 May;69(5):429-41

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia.

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May 2010

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

J Neuropathol Exp Neurol 2008 Sep;67(9):867-77

Institute for Neuromuscular Research, The Children's Hospital at Westmead, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.

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September 2008

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.

Acta Neuropathol 2008 Sep 8;116(3):235-46. Epub 2008 Apr 8.

Kids Heart Research, The Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Locked Bag 4001, Westmead, Sydney, NSW, 2145, Australia.

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September 2008

Mechanisms underlying intranuclear rod formation.

Brain 2007 Dec 10;130(Pt 12):3275-84. Epub 2007 Oct 10.

Institute for Neuromuscular Research, Children's Hospital at Westmead, NSW, Australia.

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December 2007

Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis.

Neuromuscul Disord 2007 Apr 15;17(4):276-84. Epub 2007 Feb 15.

Neurogenetics Research Unit and Institute for Neuromuscular Research, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW 2145, Australia.

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April 2007

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.

Hum Mol Genet 2006 Jan 30;15(1):129-42. Epub 2005 Nov 30.

Institute for Molecular Bioscience, Centre for Microscopy and Microanalysis and School of Biomedical Sciences, University of Queensland, Brisbane, Australia.

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January 2006

The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders.

J Neuropathol Exp Neurol 2005 Apr;64(4):350-61

Institute for Neuromuscular Research, Children's Hospital at Westmead, NSW, Australia.

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April 2005

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

Ann Neurol 2005 Jan;57(1):42-9

The Muscle Development Unit, The Children's Medical Research Institute, Wentworthville, New South Wales 2145, Australia.

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January 2005

Expression of aquaporin 1 in human cardiac and skeletal muscle.

J Mol Cell Cardiol 2004 May;36(5):655-62

Neurogenetics Research Unit and Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.

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May 2004

Single section Western blot: improving the molecular diagnosis of the muscular dystrophies.

Neurology 2003 Jul;61(1):93-7

Institute for Neuromuscular Research, The Children's Hospital at Westmead, NSW, Australia.

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July 2003