Results 71 to 80 of about 1,552 (162)

Novel therapeutic perspectives for sarcoglycanopathy by assisting protein folding

, 2016
Sarcoglycanopathy, the collective name of four forms of Limb Girdle Muscular Dystrophy (LGMD 2C-2F), is a rare genetic disorder affecting mainly the proximal musculature.
Elisa Bianchini, Giulia Pilia, Chiara Gomiero, Dorianna Sandonà, Roberta Sacchetto, Marcello Carotti   +5 more
core  

Derangement of ATP- and NAD+- related pathways in α-sarcoglycanopathy: identification of new therapeutic strategies

Sarcoglycanopathies, limb-girdle muscular dystrophies (LGMD), are rare genetic disorders caused by loss-of-function mutations of the membrane proteins sarcoglycans (SGs).
ASTIGIANO, CECILIA
core   +1 more source

The novel use of the CFTR corrector C17 in muscular dystrophy: pharmacological profile and in vivo efficacy [PDF]

Sarcoglycanopathies are rare forms of severe muscular dystrophies currently without a therapy. Mutations in sarcoglycan (SG) genes cause the reduction or absence of the SG-complex, a tetramer located in the sarcolemma that plays a protective role during ...
Benetollo, Alberto, Sandonà, Dorianna, Rossa, Andrea, Carotti, Marcello, Nogara, Leonardo, Scano, Martina, Biasutto, Lucia, Sacchetto, Roberta, Blaauw, Bert, Dalla Barba, Francesco, Parrasia, Sofia, Akyürek, Eylem Emek, Caccin, Paola, Parolin, Alessandro   +13 more
core   +1 more source

Gamma sarcoglycanopathy. Heart involvement

, 2001
POLITANO, Luisa
core   +2 more sources

Novel zebrafish models for sarcoglycanopathy

, 2019
Giovanni Risato, Cristiano Bertolucci, Dorianna Sandonà, Michela Soardi, Martina Scano, Francesco Argenton, Roberta Sacchetto, Marcello Carotti   +7 more
core   +2 more sources

LGMD2E patients risk developing dilated cardiomyopathy

, 2003
Sarcoglycan gene mutations cause various limb-girdle muscular dystrophies. The sarcoglycans are expressed both in skeletal and cardiac muscle but, surprisingly, so far only a few sarcoglycanopathy patients have had documented cardiomyopathy.
MELACINI, PAOLA, BOITO, CHIARA, FANIN, MARINA, PEGORARO, ELENA, ANGELINI, CORRADO   +4 more
core  

Rescue of folding-defective alpha-sarcoglycan mutants by means of protein folding correctors

, 2016
Sarcoglycans (SG) are glycosylated proteins (alpha-, beta-, delta- or gamma-SG) forming a key structural complex, essential for the sarcolemma integrity of striated muscles during contraction.
Elisa Bianchini, Chiara Gomiero, Dorianna Sandonà, Chiara Fecchio, Roberta Sacchetto, Marcello Carotti   +5 more
core  

Sarcoglycanopathies, therapeutic approaches based on small molecules

, 2018
Sarcoglycanopathies are rare autosomal recessive diseases affecting striated muscle, sharing a similar phenotype. The pathology is due to defects in four genes, SGCA, SGCB, SGCD and SGCG coding for α-, β-, δ- and γ-sarcoglycan (SG), respectively.
Elisa Bianchini, Dorianna Sandonà, Michela Soardi, Chiara Fecchio, Roberta Sacchetto, Marcello Carotti   +5 more
core  

Sarcoglycanopathies diagnosed at neurology department of Centro Hospitalar e Universitário de Coimbra

, 2013
Trabalho final de mestrado integrado em Medicina área científica de Neurologia-Doenças Neuro-Musculares, apresentado á Faculdade de Medicina da Universidade de CoimbraIntroduction: Sarcoglycanopathies are muscle dystrophies with autossomic recessive ...
Lopes, Sara Daniela Braga Brandão
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Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent. [PDF]

Ann Indian Acad Neurol
Shah SA, Vishnu VY, Sebastian LJD, Garg A.   +3 more
europepmc   +1 more source