| Title : Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ - Nicholas_2016_J.Clin.Endocrinol.Metab_101_4521 |
| Author(s) : Nicholas AK , Serra EG , Cangul H , Alyaarubi S , Ullah I , Schoenmakers E , Deeb A , Habeb AM , Almaghamsi M , Peters C , Nathwani N , Aycan Z , Saglam H , Bober E , Dattani M , Shenoy S , Murray PG , Babiker A , Willemsen R , Thankamony A , Lyons G , Irwin R , Padidela R , Tharian K , Davies JH , Puthi V , Park SM , Massoud AF , Gregory JW , Albanese A , Pease-Gevers E , Martin H , Brugger K , Maher ER , Chatterjee VK , Anderson CA , Schoenmakers N |
| Ref : J Clinical Endocrinology Metab , 101 :4521 , 2016 |
| Abstract : |
| PubMedSearch : Nicholas_2016_J.Clin.Endocrinol.Metab_101_4521 |
| PubMedID: 27525530 |
| 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 : Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum - Morreau_1992_J.Biol.Chem_267_17949 |
| Author(s) : Morreau H , Galjart NJ , Willemsen R , Gillemans N , Zhou XY , d'Azzo A |
| Ref : Journal of Biological Chemistry , 267 :17949 , 1992 |
| Abstract : |
| PubMedSearch : Morreau_1992_J.Biol.Chem_267_17949 |
| PubMedID: 1387645 |
| Gene_locus related to this paper: human-CTSA |
| Title : Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function - Galjart_1991_J.Biol.Chem_266_14754 |
| Author(s) : Galjart NJ , Morreau H , Willemsen R , Gillemans N , Bonten EJ , d'Azzo A |
| Ref : Journal of Biological Chemistry , 266 :14754 , 1991 |
| Abstract : |
| PubMedSearch : Galjart_1991_J.Biol.Chem_266_14754 |
| PubMedID: 1907282 |
| 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 |