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| Title : Galactosialidosis: historic aspects and overview of investigated and emerging treatment options - Annunziata_2017_Expert.Opin.Orphan.Drugs_5_131 |
| Author(s) : Annunziata I , d'Azzo A |
| Ref : Expert Opin Orphan Drugs , 5 :131 , 2017 |
| Abstract : Annunziata_2017_Expert.Opin.Orphan.Drugs_5_131 |
| ESTHER : Annunziata_2017_Expert.Opin.Orphan.Drugs_5_131 |
| PubMedSearch : Annunziata_2017_Expert.Opin.Orphan.Drugs_5_131 |
| PubMedID: 28603679 |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: review and analysis of CTSA gene mutations - Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| Author(s) : Caciotti A , Catarzi S , Tonin R , Lugli L , Perez CR , Michelakakis H , Mavridou I , Donati MA , Guerrini R , d'Azzo A , Morrone A |
| Ref : Orphanet J Rare Dis , 8 :114 , 2013 |
| Abstract : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| ESTHER : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| PubMedSearch : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| PubMedID: 23915561 |
| Gene_locus related to this paper: human-CTSA |
| Title : A Brazilian galactosialidosis patient given renal transplantation: a case report - Kiss_2008_J.Inherit.Metab.Dis_31 Suppl 2_S205 |
| Author(s) : Kiss A , Zen PR , Bittencourt V , Paskulin GA , Giugliani R , d'Azzo A , Schwartz IV |
| Ref : J Inherit Metab Dis , 31 Suppl 2 :S205 , 2008 |
| Abstract : Kiss_2008_J.Inherit.Metab.Dis_31 Suppl 2_S205 |
| ESTHER : Kiss_2008_J.Inherit.Metab.Dis_31 Suppl 2_S205 |
| PubMedSearch : Kiss_2008_J.Inherit.Metab.Dis_31 Suppl 2_S205 |
| PubMedID: 18937050 |
| Gene_locus related to this paper: human-CTSA |
| Title : New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase\/neuraminidase complex and the EBP-receptor - Malvagia_2004_Mol.Genet.Metab_82_48 |
| Author(s) : Malvagia S , Morrone A , Caciotti A , Bardelli T , d'Azzo A , Ancora G , Zammarchi E , Donati MA |
| Ref : Mol Genet Metab , 82 :48 , 2004 |
| Abstract : Malvagia_2004_Mol.Genet.Metab_82_48 |
| ESTHER : Malvagia_2004_Mol.Genet.Metab_82_48 |
| PubMedSearch : Malvagia_2004_Mol.Genet.Metab_82_48 |
| PubMedID: 15110321 |
| Gene_locus related to this paper: human-CTSA |
| Title : Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor - Cuervo_2003_EMBO.J_22_47 |
| Author(s) : Cuervo AM , Mann L , Bonten EJ , d'Azzo A , Dice JF |
| Ref : EMBO Journal , 22 :47 , 2003 |
| Abstract : Cuervo_2003_EMBO.J_22_47 |
| ESTHER : Cuervo_2003_EMBO.J_22_47 |
| PubMedSearch : Cuervo_2003_EMBO.J_22_47 |
| PubMedID: 12505983 |
| Gene_locus related to this paper: mouse-Ppgb |
| Title : New mutations in two Dutch patients with early infantile galactosialidosis - Groener_2003_Mol.Genet.Metab_78_222 |
| Author(s) : Groener J , Maaswinkel-Mooy P , Smit V , van der Hoeven M , Bakker J , Campos Y , d'Azzo A |
| Ref : Mol Genet Metab , 78 :222 , 2003 |
| Abstract : Groener_2003_Mol.Genet.Metab_78_222 |
| ESTHER : Groener_2003_Mol.Genet.Metab_78_222 |
| PubMedSearch : Groener_2003_Mol.Genet.Metab_78_222 |
| PubMedID: 12649068 |
| Gene_locus related to this paper: human-CTSA |
| 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 : Rudenko_1998_Proc.Natl.Acad.Sci.U.S.A_95_621 |
| ESTHER : Rudenko_1998_Proc.Natl.Acad.Sci.U.S.A_95_621 |
| 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 : Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families - Kleijer_1996_Pediatr.Res_39_1067 |
| Author(s) : Kleijer WJ , Geilen GC , Janse HC , van Diggelen OP , Zhou XY , Galjart NJ , Galjaard H , d'Azzo A |
| Ref : Pediatr Res , 39 :1067 , 1996 |
| Abstract : Kleijer_1996_Pediatr.Res_39_1067 |
| ESTHER : Kleijer_1996_Pediatr.Res_39_1067 |
| PubMedSearch : Kleijer_1996_Pediatr.Res_39_1067 |
| PubMedID: 8725271 |
| Gene_locus related to this paper: human-CTSA |
| 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 : Zhou_1996_Hum.Mol.Genet_5_1977 |
| ESTHER : Zhou_1996_Hum.Mol.Genet_5_1977 |
| PubMedSearch : Zhou_1996_Hum.Mol.Genet_5_1977 |
| PubMedID: 8968752 |
| Gene_locus related to this paper: human-CTSA |
| Title : Three-dimensional structure of the human 'protective protein': structure of the precursor form suggests a complex activation mechanism - Rudenko_1995_Structure_3_1249 |
| Author(s) : Rudenko G , Bonten E , d'Azzo A , Hol WG |
| Ref : Structure , 3 :1249 , 1995 |
| Abstract : Rudenko_1995_Structure_3_1249 |
| ESTHER : Rudenko_1995_Structure_3_1249 |
| PubMedSearch : Rudenko_1995_Structure_3_1249 |
| PubMedID: 8591035 |
| 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 : Morreau_1992_J.Biol.Chem_267_17949 |
| ESTHER : Morreau_1992_J.Biol.Chem_267_17949 |
| 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 : Galjart_1991_J.Biol.Chem_266_14754 |
| ESTHER : Galjart_1991_J.Biol.Chem_266_14754 |
| 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 : Zhou_1991_EMBO.J_10_4041 |
| ESTHER : Zhou_1991_EMBO.J_10_4041 |
| PubMedSearch : Zhou_1991_EMBO.J_10_4041 |
| PubMedID: 1756715 |
| Gene_locus related to this paper: human-CTSA |
| Title : The gene encoding human protective protein (PPGB) is on chromosome 20 - Wiegant_1991_Genomics_10_345 |
| Author(s) : Wiegant J , Galjart NJ , Raap AK , d'Azzo A |
| Ref : Genomics , 10 :345 , 1991 |
| Abstract : Wiegant_1991_Genomics_10_345 |
| ESTHER : Wiegant_1991_Genomics_10_345 |
| PubMedSearch : Wiegant_1991_Genomics_10_345 |
| PubMedID: 2071143 |
| Gene_locus related to this paper: human-CTSA |
| Title : Mouse 'protective protein': cDNA cloning, sequence comparison, and expression - Galjart_1990_J.Biol.Chem_265_4678 |
| Author(s) : Galjart NJ , Gillemans N , Meijer D , d'Azzo A |
| Ref : Journal of Biological Chemistry , 265 :4678 , 1990 |
| Abstract : Galjart_1990_J.Biol.Chem_265_4678 |
| ESTHER : Galjart_1990_J.Biol.Chem_265_4678 |
| PubMedSearch : Galjart_1990_J.Biol.Chem_265_4678 |
| PubMedID: 2106523 |
| Gene_locus related to this paper: mouse-Ppgb |
| Title : The presence of a reduced amount of 32-kd protective protein is a distinct biochemical finding in late infantile galactosialidosis - Strisciuglio_1988_Hum.Genet_80_304 |
| Author(s) : Strisciuglio P , Parenti G , Giudice C , Lijoi S , Hoogeveen AT , d'Azzo A |
| Ref : Hum Genet , 80 :304 , 1988 |
| Abstract : Strisciuglio_1988_Hum.Genet_80_304 |
| ESTHER : Strisciuglio_1988_Hum.Genet_80_304 |
| PubMedSearch : Strisciuglio_1988_Hum.Genet_80_304 |
| PubMedID: 3142815 |
| Gene_locus related to this paper: human-CTSA |
| Title : Expression of cDNA encoding the human protective protein associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases - Galjart_1988_Cell_54_755 |
| Author(s) : Galjart NJ , Gillemans N , Harris A , van der Horst GT , Verheijen FW , Galjaard H , d'Azzo A |
| Ref : Cell , 54 :755 , 1988 |
| Abstract : Galjart_1988_Cell_54_755 |
| ESTHER : Galjart_1988_Cell_54_755 |
| PubMedSearch : Galjart_1988_Cell_54_755 |
| PubMedID: 3136930 |
| Gene_locus related to this paper: human-CTSA |
| Title : Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man - D'Azzo_1982_Proc.Natl.Acad.Sci.U.S.A_79_4535 |
| Author(s) : d'Azzo A , Hoogeveen A , Reuser AJ , Robinson D , Galjaard H |
| Ref : Proc Natl Acad Sci U S A , 79 :4535 , 1982 |
| Abstract : D'Azzo_1982_Proc.Natl.Acad.Sci.U.S.A_79_4535 |
| ESTHER : D'Azzo_1982_Proc.Natl.Acad.Sci.U.S.A_79_4535 |
| PubMedSearch : D'Azzo_1982_Proc.Natl.Acad.Sci.U.S.A_79_4535 |
| PubMedID: 6812049 |
| Gene_locus related to this paper: human-CTSA |
| Title : Correction of combined beta-galactosidase\/neuraminidase deficiency in human fibroblasts - |
| Author(s) : Hoogeveen A , d'Azzo A , Brossmer R , Galjaard H |
| Ref : Biochemical & Biophysical Research Communications , 103 :292 , 1981 |
| PubMedID: 6797429 |
| Gene_locus related to this paper: human-CTSA |
| Title : Genetic heterogeneity in human neuraminidase deficiency - Hoogeveen_1980_Nature_285_500 |
| Author(s) : Hoogeveen AT , Verheijen FW , d'Azzo A , Galjaard H |
| Ref : Nature , 285 :500 , 1980 |
| Abstract : Hoogeveen_1980_Nature_285_500 |
| ESTHER : Hoogeveen_1980_Nature_285_500 |
| PubMedSearch : Hoogeveen_1980_Nature_285_500 |
| PubMedID: 6772959 |
| Gene_locus related to this paper: human-CTSA |