List of works - Sandra T Cooper

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

scientific article published on 22 April 2017

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

scientific article

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

scientific article published in January 2005

C2C12 co-culture on a fibroblast substratum enables sustained survival of contractile, highly differentiated myotubes with peripheral nuclei and adult fast myosin expression.

scientific article

Ca2+ and mitochondrial ROS: Both hero and villain in membrane repair.

scientific article

Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair.

scientific article

Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair.

scientific article published in March 2013

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

scientific article

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

scientific article published on 25 April 2018

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

scientific article published on 3 March 2017

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

scientific article

Dietary intervention rescues myopathy associated with neurofibromatosis type 1.

scientific article published on 8 December 2017

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

scientific article published on September 2008

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

scientific article published on December 2016

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

scientific article published in April 2011

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

scientific article published on 9 February 2017

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

scientific article

Expression of aquaporin 1 in human cardiac and skeletal muscle.

scientific article

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

scientific article published on 27 December 2015

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

scientific article published on 04 April 2012

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

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

scientific article published on May 2010

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness

scientific article published on December 2007

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

scientific journal article

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

scientific article published on 19 January 2016

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis

scientific article published on 25 September 2007

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

scientific article

Mechanisms underlying intranuclear rod formation.

scientific article published on 10 October 2007

Membrane Injury and Repair in the Muscular Dystrophies.

scientific article

Membrane Repair: Mechanisms and Pathophysiology.

scientific article

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

article

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

scientific article

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

scientific article published on 2 January 2015

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

scientific article

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

scientific article published on August 2013

Myocardial membrane injury in pediatric cardiac surgery: An animal model.

scientific article published on 23 February 2009

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

scientific article published on 19 December 2017

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

scientific article published on 29 August 2020

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

scientific article published on 17 December 2013

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

scientific article

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

scientific article published on 09 September 2020

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

scientific article

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

scientific article published on 25 April 2019

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

scientific article published on 29 October 2019

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

scientific article

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

scientific article published on 24 May 2016

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

scientific article

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

scientific article published on 05 October 2015

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

scholarly article

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

scientific article published on 2 September 2016

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

scientific journal article

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function

scientific article

List of works by Sandra T Cooper

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

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

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

C2C12 co-culture on a fibroblast substratum enables sustained survival of contractile, highly differentiated myotubes with peripheral nuclei and adult fast myosin expression.

Ca2+ and mitochondrial ROS: Both hero and villain in membrane repair.

Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair.

Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair.

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

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

Dietary intervention rescues myopathy associated with neurofibromatosis type 1.

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

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

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

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

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

Expression of aquaporin 1 in human cardiac and skeletal muscle.

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

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

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

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis

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

Mechanisms underlying intranuclear rod formation.

Membrane Injury and Repair in the Muscular Dystrophies.

Membrane Repair: Mechanisms and Pathophysiology.

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

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

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

Myocardial membrane injury in pediatric cardiac surgery: An animal model.

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

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

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

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

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

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

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

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

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

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function