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Showing 1 to 20 of 66 for “"Myopathy"”.
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Prediction and Evaluation of Breast Myopathy
… were different between each other as well the WB myopathy. Furthermore, the broiler breast myopathies demographic chapter to summarize all the data collected in 3 years with the most utilized strains in the market. Generally, myopathies increase as the birds get older and larger and they also …
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Role Of Actg2 Mutations In Visceral Myopathy
ABSTRACTROLE OF ACTG2 MUTATIONS IN VISCERAL MYOPATHY Sohaib K. Hashmi Robert O. Heuckeroth Visceral myopathy is a debilitating condition characterized by dysfunction and weakness of smooth muscle in visceral organs including bowel, bladder, and uterus. When the bowel is primarily affected, the …
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In vivo identification of drug therapeutics for nemaline myopathy
… a strategy for developing therapies for Nemaline Myopathy (NM). Nemaline myopathy is a rare congenital neuromuscular disorder characterized by muscle weakness and the accumulation of fine rod-like structures, known as nemaline bodies, within skeletal muscle fibers. The main objective of this study …
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Mitochondrial Dysfunction and Stress Responses in CHCHD10 Myopathy and Neurodegeneration
… and autosomal dominant isolated mitochondrial myopathy. Modelling these disorders is revealing how mitochondrial dysfunction contributes to the aetiology of neuromuscular and neurodegenerative diseases. In this dissertation I generate and characterise a knockin mouse model of the CHCHD10 p.G58R …
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Aerobic Exercise-Mediated Prevention Against Glucocorticoid Myopathy in Aged Skeletal Muscle
… sex influences the development of glucocorticoid myopathy in aged muscle, and to determine the extent to which moderate intensity aerobic exercise training protects against development of myopathy. 24-month-old female (n=30) and male (n=33) mice were randomized to either sedentary or aerobic …
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The impact of physical activity on statin-associated skeletal muscle myopathy
… common side effect of statins is skeletal muscle myopathy, which appears to be exacerbated by exercise. PURPOSE: The purpose of this study was to examine the effects of statin treatment with novel or accustomed exercise in hypercholesterolemic (ApoE-/-) or wild type (WT) mice on muscle function …
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PATHOGENETIC DEFINITION OF THE MECHANISMS UNDERLYING THE NOVEL FAMILY OF PLIN4 GENE EXPANSION-RELATED MYOPATHY
La miopatia causata da mutazione nel gene PLIN4 è una rara patologia caratterizzata da esordio tardivo e progressiva debolezza muscolare. Fino ad oggi, sono state identificate due mutazioni causative: un’espansione di blocchi di 99 nucleotidi e una duplicazione di 14 blocchi, identificata …
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A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy
I examined a Korean family with complex phenotypes characterized by intellectualdisability,epilepsy,and generalized muscle weakness of early childhood onset. I performed several conventional genetic tests to detect chromosomal aberrations, gene copy number variations, and candidate gene and …
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Physiological responses of wild antelope to exercise training as a prospective treatment to prevent capture myopathy
Capture myopathy is a lethal condition associated with physiological stress in wildlife and is responsible for most deaths during game capture. Exercise training to improve fitness has been proposed as a preventative management strategy for capture myopathy but lacks scientific evidence. The aim of …
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Molecular genetic investigation of autosomal dominant muscular dystrophy
… a strong candidate gene for a form of distal myopathy. Genomic clones for the human skeletal muscle genes slow troponin (TNN/1), alpha actin (ACTA1), and (3-tropomyosin (TPM2) were isolated for use in the fluorescent in situ hybridisation localisation of these genes on the cytogenetic map of …
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The effects of gene replacement therapy on respiratory and gait function in a canine model of X-linked myotubular myopathy
X-linked myotubular myopathy (XLMTM) is a fatal pediatric disease caused by a deficiency of the protein myotubularin due to mutation of the MTM1 gene on the X chromosome. Affected boys experience profound skeletal muscle weakness and are typically ventilator and wheelchair dependent, with …
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Translational high-dimesional drug interaction discovery and validation using health record databases and pharmacokinetics models
… Multi-drug combinations that increased risk of myopathy were identified in the FAERS and EMR databases by a mixture drug-count response model (MDCM) model. Twenty-eight 3-way and 43 4-way DDI’s increased ratio of area under plasma concentration–time curve (AUCR) >2-fold and had significant …
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Discovery of New Regulatory Proteins and Mechanisms in Muscle Biology and Disease
… deletion of Klhl40 in mice results in a nemaline myopathy-like phenotype with disruption of sarcomere function causing neonatal lethality. Nemaline myopathy (NM) typically results from sarcomere thin filament dysfunction, but the molecular function of Klhl40 is not known. We found that Klhl40 …
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The Role of BiP Co-chaperone SIL1 in Marinesco-Sjögren Syndrome Pathogenesis
… early-onset bilateral cataracts, and progressive myopathy amongst other symptoms. MSS has been attributed to mutations in the SIL1 gene, which encodes a nucleotide exchange factor for the endoplasmicreticulum- resident Hsp70 chaperone, BiP. To date, there are 46 MSS-associated mutations that have …
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Protein interaction studies on the titin A150 domain using proximity-dependent biotinylation
… FN3 119, is sufficient to cause a dominant myopathy known as Hereditary Myopathy with Early Respiratory Failure (HMERF), with the most prevalent disease-causing variant being the c.95134T>C (p.C31712R) variant. HMERF is characterized by weakness in proximal and distal skeletal muscles and …
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Biomechanical and physiological investigations in the IBMPFD animal model
Inclusion body myopathy associated with Paget’s disease of bone and frontotemporal dementia (IBMPFD; OMIM 167320) is an autosomal dominant inherited multisystem disorder caused by mutations in the valosin-containing protein (VCP) gene. Knock-in mice expressing the common human p.R155H VCP mutation …
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Parallels and Divergences in Multisystem Proteinopathy Genes: Stress Granules, Autophagy, and Myogenic Deficits
… that causes some combination of inclusion body myopathy with rimmed vacuoles, Paget’s disease of bone, and ALS/FTD. Several different genes give rise to the unique phenotypic expression of MSP. Given the variety of genes that cause MSP and the specificity of the phenotype and tissue involvement, …
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Exercise and free radical induced damage to human skeletal muscle
… in initial muscle injury. In rodents, exercise myopathy can compromise muscle antioxidant status, possibly resulting in free radical mediated injury. The third study investigated if these events occurred in human muscle, following eccentric exercise. Muscle myopathy did not compromise muscle …
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