ABCMdb

PMID: 10597630

Chevet E, Jakob CA, Thomas DY, Bergeron JJ
Calnexin family members as modulators of genetic diseases.
Semin Cell Dev Biol. 1999 Oct;10(5):473-80., [PubMed]

Sentences

No. Mutations Sentence Comment

85 ABCC7 p.Gly85Glu ABCC7 p.Gly91Arg Potential involvement of calnexin and calreticulin in genetically-inherited diseases Protein Mutation Disease Calnexin Calreticulin Degradation ␣1-antitrypsin null Hong-Kong Emphysema q ref. 54 ᎐ q ref. 34 Ž .Liver disease Z-allele Emphysema q ref. 2 ᎐ q ref. 2 Ž .ref. 2 Lungrliver disease CFTR ⌬F508 ref. 51 Cystic fibrosis q ref. 51 ᎐ ᎐ G85E ref. 55 ND ND G91R ref. 55 ND ND Myeloperoxidase Y173C ref. 56 Decreased q ref. 57 q ref. 57 q ref. 56 W569R ref. 56 microbicidal response Factor VIII R2307Q ref. 58 Haemophilia q ref. 37 q ref. 37 Thyroglobulin Congenital q ref. 59 q ref. 59 ᎐ hyperthyroid goiter Figure 4. Login to comment 119 ABCC7 p.Gly85Glu ABCC7 p.Gly91Arg ref. 2 Lungrliver disease CFTR DF508 ref. 51 Cystic fibrosis q ref. 51 ] ] G85E ref. 55 ND ND G91R ref. 55 ND ND Myeloperoxidase Y173C ref. 56 Decreased q ref. 57 q ref. 57 q ref. 56 W569R ref. 56 microbicidal response Factor VIII R2307Q ref. 58 Haemophilia q ref. 37 q ref. 37 Thyroglobulin Congenital q ref. 59 q ref. 59 ] hyperthyroid goiter Figure 4. Login to comment