Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8082
Gene Symbol: SSPN
SSPN
0.070 Biomarker disease BEFREE In order to investigate the mechanisms underlying sarcospan 'rescue' of muscular dystrophy, we created double-knockout mice to test the contributions of utrophin or α7 integrin. 25504048 2015
Entrez Id: 8082
Gene Symbol: SSPN
SSPN
0.070 GeneticVariation disease BEFREE Contrary to expectations, mice homozygous for the H77C-encoding allele expressed both this mutant alpha-sarcoglycan and the other components of the sarcoglycan-sarcospan complex in striated muscle, and did not develop muscular dystrophy. 18252746 2008
Entrez Id: 8082
Gene Symbol: SSPN
SSPN
0.070 AlteredExpression disease BEFREE Expression profiles of sarcospan in muscles with muscular dystrophies are scarcely reported. 18830929 2008
Entrez Id: 8082
Gene Symbol: SSPN
SSPN
0.070 AlteredExpression disease LHGDN Expression profiles of sarcospan in muscles with muscular dystrophies are scarcely reported. 18830929 2008
Entrez Id: 8082
Gene Symbol: SSPN
SSPN
0.070 Biomarker disease BEFREE We show that sarcospan (SSPN), a unique tetraspanin-like component of the DGC, ameliorates muscular dystrophy in dystrophin-deficient mdx mice. 18981229 2008
Entrez Id: 8082
Gene Symbol: SSPN
SSPN
0.070 Biomarker disease BEFREE This is the first demonstration that membrane expression of a mutant sarcoglycan-sarcospan complex is insufficient in preventing muscular dystrophy and cardiomyopathy and that the C-terminus of gamma-sarcoglycan is critical for the functioning of the entire sarcoglycan-sarcospan complex. 10942431 2000
Entrez Id: 8082
Gene Symbol: SSPN
SSPN
0.070 Biomarker disease BEFREE Next, we provide evidence for the association of gamma-sarcoglycan with the sarcoglycan-sarcospan complex by biochemical analysis and comparison among animal models for muscular dystrophy. 10993904 2000
Entrez Id: 8082
Gene Symbol: SSPN
SSPN
0.070 Biomarker disease BEFREE Our data suggest that loss of the sarcoglycan complex and sarcospan alone is sufficient to cause muscular dystrophy, that beta-sarcoglycan is an important protein for formation of the sarcoglycan complex associated with sarcospan and that the role of the sarcoglycan complex and sarcospan may be to strengthen the dystrophin axis connecting the basement membrane with the cytoskeleton. 10441321 1999