Mutation in transforming growth factor beta induced protein associated with granular corneal dystrophy type 1 reduces the proteolytic susceptibility through local structural stabilization.
Biochim Biophys Acta
; 1834(12): 2812-22, 2013 Dec.
Article
em En
| MEDLINE
| ID: mdl-24129074
Palavras-chave
2,2-Dimethyl-2-silapentane-5-sulfonate; Corneal dystrophy; DSS; EMI; EMILIN-1 domain; FAS1; FAS1-4; GCD; IPTG; LB; LCD; Lysogeny broth; MD; NMR; NMR structure; OD; PDB; Protein Data Bank; Protein aggregation; Protein misfolding diseases; Proteolytic degradation; RDC; RMSD; RMSF; SUMO; TBCD; TGFBI; TGFBIp; ThielBehnke corneal dystrophy; Transforming growth factor beta induced protein (TGFBIp); WT; fasciclin 1 domain; fourth FAS1 domain of TGFBIp; granular corneal dystrophy; isopropyl ß-d-1-thiogalactopyranoside; lattice corneal dystrophy; molecular dynamics; nuclear magnetic resonance; optical density; residual dipolar couplings; root-mean-square deviation; root-mean-square fluctuation; small ubiquitin-like modifier; transforming growth factor beta induced gene; transforming growth factor beta induced protein; wild-type
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Distrofias Hereditárias da Córnea
/
Proteínas da Matriz Extracelular
/
Fator de Crescimento Transformador beta
/
Substituição de Aminoácidos
/
Mutação de Sentido Incorreto
/
Proteólise
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Biochim Biophys Acta
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Noruega