Search Results - "MEMO, Massimiliano"
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Donor hearts in the Sydney Heart Bank: reliable control but is it ‘normal’ heart?
Published in Biophysical reviews (01-08-2020)“…Human heart samples from the Sydney Heart Bank have become a de facto standard against which others can be measured. Crucially, the heart bank contains a lot…”
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Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity
Published in Cardiovascular research (01-07-2013)“…The pure form of familial dilated cardiomyopathy (DCM) is mainly caused by mutations in genes encoding sarcomeric proteins. Previous measurements using…”
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Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function
Published in Journal of muscle research and cell motility (01-08-2013)“…It is well known that the regulation of muscle contraction relies on the ability of tropomyosin to switch between different positions on the actin filament,…”
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Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients
Published in Human molecular genetics (15-12-2013)“…The congenital myopathies include a wide spectrum of clinically, histologically and genetically variable neuromuscular disorders many of which are caused by…”
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Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy
Published in Biochemical journal (15-02-2012)“…NM (nemaline myopathy) is a rare genetic muscle disorder defined on the basis of muscle weakness and the presence of structural abnormalities in the muscle…”
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β Integrin Tyrosine Phosphorylation Is a Conserved Mechanism for Regulating Talin-induced Integrin Activation
Published in The Journal of biological chemistry (25-12-2009)“…Integrins are large membrane-spanning receptors fundamental to cell adhesion and migration. Integrin adhesiveness for the extracellular matrix is activated by…”
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Molecular Mechanism of Novel Deletions in TPM3 that cause a Hypercontractile Phenotype with Congenital Muscle Stiffness
Published in Biophysical journal (16-02-2016)Get full text
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K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
Published in Brain (London, England : 1878) (01-02-2013)“…Mutations in the TPM2 gene, which encodes β-tropomyosin, are an established cause of several congenital skeletal myopathies and distal arthrogryposis. We have…”
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Investigation of a transgenic mouse model of familial dilated cardiomyopathy
Published in Journal of molecular and cellular cardiology (01-09-2010)“…Abstract We have investigated a transgenic mouse model of inherited dilated cardiomyopathy that stably expresses the ACTC E361G mutation at around 50% of total…”
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There is a Limit to the Changes in Myofilament Ca2+-Sensitivity due to Myopathies
Published in Biophysical journal (29-01-2013)Get full text
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Does Uncoupling of Troponin I Phosphorylation from Changes in Myofibrillar Ca2+-Sensitivity Play a Role in the Pathogenesis of Cardiomyopathy?
Published in Biophysical journal (31-01-2012)Get full text
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Loss of Function in β-Tropomyosin (TPM2) Mutants Causing Nemaline Myopathy or Cap Disease
Published in Biophysical journal (01-01-2010)Get full text
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Molecular mechanisms of myopathies
Published 01-01-2012“…This study was aimed at the investigation of the mechanisms by which mutations on proteins of the thin filaments could lead to cardiac and skeletal muscle…”
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Dissertation -
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β Integrin Tyrosine Phosphorylation Is a Conserved Mechanism for Regulating Talin-induced Integrin Activation
Published in The Journal of biological chemistry (25-12-2009)“…Integrins are large membrane-spanning receptors fundamental to cell adhesion and migration. Integrin adhesiveness for the extracellular matrix is activated by…”
Get full text
Journal Article