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Dysferlinopathy in Chile: Evidence of Two Novel Mutations in the First Reported Cases
(MARY ANN LIEBERT, INC, 2009)
We describe two Chilean patients with dysferlinopathy, a 32-year-old man with Miyoshi's distal myopathy and a 29-year-old woman with a proximodistal phenotype. Absence of dysferlin in frozen muscle biopsy allowed diagnostic ...
Telethonin protein expression in neuromuscular disorders
(Elsevier B.V., 2002-10-09)
Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. Mutations in the telethonin gene cause limb-girdle muscular dystrophy type 2G (LGMD2G). We investigated the sarcomeric ...
Human Multipotent Mesenchymal Stromal Cells from Distinct Sources Show Different In Vivo Potential to Differentiate into Muscle Cells When Injected in Dystrophic Mice
(SPRINGER HEIDELBERG, 2010)
Limb-girdle muscular dystrophies are a heterogeneous group of disorders characterized by progressive degeneration of skeletal muscle caused by the absence or deficiency of muscle proteins. The murine model of Limb-Girdle ...
Muscle Protein Alterations in LGMD21 Patients With Different Mutations in the Fukutin-related Protein Gene
(HISTOCHEMICAL SOC INC, 2008)
Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder ...
SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression
(ALPHAMED PRESS, 2008)
Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive degeneration of skeletal muscle caused by the absence of or defective muscular proteins. The murine model for ...
Animal models for genetic neuromuscular diseases
(HUMANA PRESS INC, 2008)
The neuromuscular disorders are a heterogeneous group of genetic diseases, caused by mutations in genes coding sarcolemmal, sarcomeric, and citosolic muscle proteins. Deficiencies or loss of function of these proteins leads ...
Effect of Eukarion-134 on Akt–mTOR signalling in the rat soleus during 7 days of mechanical unloading
(2018-04-01)
New Findings: What is the central question of this study? Translocation of nNOSμ initiates catabolic signalling via FoxO3a and skeletal muscle atrophy during mechanical unloading. Recent evidence suggests that unloading-induced ...