Gene Locus : human-CTSA
Mode of mutation : Natural mutant
Disease : Galactosialidosis
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.F440V Phe440Val (p.F412V Phe412Val in the mature protein without signal peptide)
| Title : The atomic model of the human protective protein\/cathepsin A suggests a structural basis for galactosialidosis - Rudenko_1998_Proc.Natl.Acad.Sci.U.S.A_95_621 |
| Author(s) : Rudenko G , Bonten E , Hol WG , d'Azzo A |
| Ref : Proceedings of the National Academy of Sciences of the United States of America , 95 :621 , 1998 |
| Abstract : |
| PubMedSearch : Rudenko_1998_Proc.Natl.Acad.Sci.U.S.A_95_621 |
| PubMedID: 9435242 |
| Gene_locus related to this paper: human-CTSA , mouse-Ppgb |
| Title : Molecular and biochemical analysis of protective protein\/cathepsin A mutations: correlation with clinical severity in galactosialidosis - Zhou_1996_Hum.Mol.Genet_5_1977 |
| Author(s) : Zhou XY , van der Spoel A , Rottier R , Hale G , Willemsen R , Berry GT , Strisciuglio P , Morrone A , Zammarchi E , Andria G , d'Azzo A |
| Ref : Hum Mol Genet , 5 :1977 , 1996 |
| Abstract : |
| PubMedSearch : Zhou_1996_Hum.Mol.Genet_5_1977 |
| PubMedID: 8968752 |
| Gene_locus related to this paper: human-CTSA |
| Title : A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable - Zhou_1991_EMBO.J_10_4041 |
| Author(s) : Zhou XY , Galjart NJ , Willemsen R , Gillemans N , Galjaard H , d'Azzo A |
| Ref : EMBO Journal , 10 :4041 , 1991 |
| Abstract : |
| PubMedSearch : Zhou_1991_EMBO.J_10_4041 |
| PubMedID: 1756715 |
| Gene_locus related to this paper: human-CTSA |
| Title : Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form - Strisciuglio_1990_Am.J.Med.Genet_37_573 |
| Author(s) : Strisciuglio P , Sly WS , Dodson WE , McAlister WH , Martin TC |
| Ref : American Journal of Medicine Genet , 37 :573 , 1990 |
| Abstract : |
| PubMedSearch : Strisciuglio_1990_Am.J.Med.Genet_37_573 |
| PubMedID: 2148053 |
| Gene_locus related to this paper: human-CTSA |
| Title : Juvenile galactosialidosis in a white male: a new variant - Chitayat_1988_Am.J.Med.Genet_31_887 |
| Author(s) : Chitayat D , Applegarth DA , Lewis J , Dimmick JE , McCormick AQ , Hall JG |
| Ref : American Journal of Medicine Genet , 31 :887 , 1988 |
| Abstract : |
| PubMedSearch : Chitayat_1988_Am.J.Med.Genet_31_887 |
| PubMedID: 3149149 |
| Gene_locus related to this paper: human-CTSA |