human-CTSA
Homo sapiens (Human) protective protein associated with lysosomal beta-galactosidase ppt2 protein CTSA Cathepsin A, PPGB
Comment
Cathepsin A (CTSA , CATHA protective protein PPCA, beta-galactosidase protective protein PPGB, Carboxypeptidase L, Carboxypeptidase C, Protective protein cathepsin A) is a ubiquitously expressed multifunctional enzyme, with deamidase, esterase, and carboxypeptidase activities and a preference for substrates with hydrophobic amino acid residues at the P1-prime position. Association with CTSA, as part of the lysosomal multienzyme complex, is essential for stabilization of lysosomal beta-galactosidase (GLB1\; 611458), as well as for activation of the lysosomal neuraminidase (NEU1\; 608272) (summary by Seyrantepe et al., 2008). The protective protein is a glycoprotein that associates with lysosomal beta-galactosidase and neuraminidase and is deficient in the autosomal recessive disorder Galactosialidosis. BC000597 Trembl Q9BW68 clone MGC:1994 Similar to protective protein for beta-galactosidase aussi EC 3.4.16.5, Cathepsin A, Carboxypeptidase C, AL008726 Trembl Q96KJ2 HS337O18_11 gene isoform 1, AL008726 Trembl Q9BR08 HS337O18_10 gene isoform 2
Relationship
Family : Carboxypeptidase_S10
Block : X
Position in NCBI Life Tree : Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N EMolecular evidence
C241R_human-CTSA
C331LfsX55_human-CTSA
F173PfsX37_human-CTSA
F440V_human-CTSA
G439S_human-CTSA
G85S_human-CTSA
G85V_human-CTSA
H98R_human-CTSA
IVS2+1G>T_human-CTSA
IVS7ex7del_human-CTSA
K453E_human-CTSA
L199FfsX_human-CTSA
L236P_human-CTSA
L260VfsX105_human-CTSA
M406T_human-CTSA
Q388X_human-CTSA
Q49R_human-CTSA
R424W_human-CTSA
S21PfsX91_human-CTSA
S51Y_human-CTSA
S90L_human-CTSA
V132M_human-CTSA
W65R_human-CTSA
Y249N_human-CTSA
Y395C_human-CTSA
1IVY - Human protective protein, cathepsin A, carboxypeptidase L
4AZ0 - Crystal structure of human cathepsin A, complexed with 8a
4AZ3 - Crystal structure of cathepsin a, complexed with 15a
4CI9 - Crystal structure of human cathepsin A, apo-structure
4CIA - Crystal structure of human cathepsin A, complexed compound 1 6KZ-4CIA
4CIB - Crystal structure of huamn cathepsin A, , complexed with 2-(cyclohexylmethyl)propanedioic-acid compound 2
4MWS - Crystal structure of human PPCA (trigonal crystal form 1)
4MWT - Crystal structure of human PPCA (trigonal crystal form 2)
6WIA - Crystal structure of human protective protein, cathepsin A, carboxypeptidase L DFP-inhibited (Aged)
No kinetic
Sequence
Peptide
MIRAAPPPLF LLLLLLLLLV SWASRGEAAP DQDEIQRLPG LAKQPSFRQY SGYLKSSGSK HLHYWFVESQ KDPENSPVVL WLNGGPGCSS LDGLLTEHGP FLVQPDGVTL EYNPYSWNLI ANVLYLESPA GVGFSYSDDK FYATNDTEVA QSNFEALQDF FRLFPEYKNN KLFLTGESYA GIYIPTLAVL VMQDPSMNLQ GLAVGNGLSS YEQNDNSLVY FAYYHGLLGN RLWSSLQTHC CSQNKCNFYD NKDLECVTNL QEVARIVGNS GLNIYNLYAP CAGGVPSHFR YEKDTVVVQD LGNIFTRLPL KRMWHQALLR SGDKVRMDPP CTNTTAASTY LNNPYVRKAL NIPEQLPQWD MCNFLVNLQY RRLYRSMNSQ YLKLLSSQKY QILLYNGDVD MACNFMGDEW FVDSLNQKME VQRRPWLVKY GDSGEQIAGF VKEFSHIAFL TIKGAGHMVP TDKPLAAFTM FSRFLNKQPY
References (79)
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| Author(s) : Li J , Liu S , Shi J , Zhu HJ |
| Ref : Pharmaceutics , 13 : , 2021 |
| Abstract : |
| PubMedSearch : Li_2021_Pharmaceutics_13_ |
| PubMedID: 34683949 |
| Gene_locus related to this paper: human-CTSA |
| Title : Contributions of Cathepsin A and Carboxylesterase 1 to the hydrolysis of Tenofovir Alafenamide in the Human Liver, and the Effect of CES1 Genetic Variation on Tenofovir Alafenamide Hydrolysis - Li_2021_Drug.Metab.Dispos__ |
| Author(s) : Li J , Shi J , Xiao J , Tran L , Wang X , Zhu HJ |
| Ref : Drug Metabolism & Disposition: The Biological Fate of Chemicals , : , 2021 |
| Abstract : |
| PubMedSearch : Li_2021_Drug.Metab.Dispos__ |
| PubMedID: 34933885 |
| Gene_locus related to this paper: human-CES1 , human-CTSA |
| Title : Structural and Kinetic Evidence of Aging after Organophosphate Inhibition of Human Cathepsin A - Bouknight_2020_Biochem.Pharmacol__113980 |
| Author(s) : Bouknight KD , Jurkouich KM , Compton JR , Khavrutskii IV , Guelta MA , Harvey SP , Legler PM |
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| Abstract : |
| PubMedSearch : Bouknight_2020_Biochem.Pharmacol__113980 |
| PubMedID: 32305437 |
| Gene_locus related to this paper: human-CTSA |
| Title : Turning the backbone into an ankylosed concrete-like structure: Case report - Kaissi_2018_Medicine.(Baltimore)_97_e0278 |
| Author(s) : Kaissi AA , Chehida FB , Grill F , Ganger R , Kircher SG |
| Ref : Medicine (Baltimore) , 97 :e0278 , 2018 |
| Abstract : |
| PubMedSearch : Kaissi_2018_Medicine.(Baltimore)_97_e0278 |
| PubMedID: 29642148 |
| Gene_locus related to this paper: human-CTSA |
| 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 : |
| PubMedSearch : Annunziata_2017_Expert.Opin.Orphan.Drugs_5_131 |
| PubMedID: 28603679 |
| Gene_locus related to this paper: human-CTSA |
| Title : Implications of Efficient Hepatic Delivery by Tenofovir Alafenamide (GS-7340) for Hepatitis B Virus Therapy - Murakami_2015_Antimicrob.Agents.Chemother_59_3563 |
| Author(s) : Murakami E , Wang T , Park Y , Hao J , Lepist EI , Babusis D , Ray AS |
| Ref : Antimicrobial Agents & Chemotherapy , 59 :3563 , 2015 |
| Abstract : |
| PubMedSearch : Murakami_2015_Antimicrob.Agents.Chemother_59_3563 |
| PubMedID: 25870059 |
| Gene_locus related to this paper: human-CTSA |
| Title : Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families - Shamseldin_2015_Genome.Biol_16_116 |
| Author(s) : Shamseldin HE , Tulbah M , Kurdi W , Nemer M , Alsahan N , Al Mardawi E , Khalifa O , Hashem A , Kurdi A , Babay Z , Bubshait DK , Ibrahim N , Abdulwahab F , Rahbeeni Z , Hashem M , Alkuraya FS |
| Ref : Genome Biol , 16 :116 , 2015 |
| Abstract : |
| PubMedSearch : Shamseldin_2015_Genome.Biol_16_116 |
| PubMedID: 26036949 |
| Gene_locus related to this paper: human-CTSA |
| Title : Proteolytic activation of human cathepsin A - Kolli_2014_J.Biol.Chem_289_11592 |
| Author(s) : Kolli N , Garman SC |
| Ref : Journal of Biological Chemistry , 289 :11592 , 2014 |
| Abstract : |
| PubMedSearch : Kolli_2014_J.Biol.Chem_289_11592 |
| PubMedID: 24599961 |
| Gene_locus related to this paper: human-CTSA |
| Title : Metabolism and antiretroviral activity of tenofovir alafenamide in CD4+ T-cells and macrophages from demographically diverse donors - Bam_2014_Antivir.Ther_19_669 |
| Author(s) : Bam RA , Birkus G , Babusis D , Cihlar T , Yant SR |
| Ref : Antivir Ther , 19 :669 , 2014 |
| Abstract : |
| PubMedSearch : Bam_2014_Antivir.Ther_19_669 |
| PubMedID: 24625459 |
| Gene_locus related to this paper: human-CTSA |
| Title : Remodeling natural products: chemistry and serine hydrolase activity of a rocaglate-derived beta-lactone - Lajkiewicz_2014_J.Am.Chem.Soc_136_2659 |
| Author(s) : Lajkiewicz NJ , Cognetta AB, 3rd , Niphakis MJ , Cravatt BF , Porco JA, Jr. |
| Ref : Journal of the American Chemical Society , 136 :2659 , 2014 |
| Abstract : |
| PubMedSearch : Lajkiewicz_2014_J.Am.Chem.Soc_136_2659 |
| PubMedID: 24447064 |
| Gene_locus related to this paper: human-ABHD10 , human-ACOT1 , human-ACOT2 , human-CTSA , human-SCPEP1 , mouse-abhda |
| Title : Crystal structure of cathepsin A, a novel target for the treatment of cardiovascular diseases - Schreuder_2014_Biochem.Biophys.Res.Commun_445_451 |
| Author(s) : Schreuder HA , Liesum A , Kroll K , Bohnisch B , Buning C , Ruf S , Sadowski T |
| Ref : Biochemical & Biophysical Research Communications , 445 :451 , 2014 |
| Abstract : |
| PubMedSearch : Schreuder_2014_Biochem.Biophys.Res.Commun_445_451 |
| PubMedID: 24530914 |
| 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 : |
| PubMedSearch : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| PubMedID: 23915561 |
| Gene_locus related to this paper: human-CTSA |
| Title : Novel beta-amino acid derivatives as inhibitors of cathepsin A. - Ruf_2012_J.Med.Chem_55_7636 |
| Author(s) : Ruf S , Buning C , Schreuder H , Horstick G , Linz W , Olpp T , Pernerstorfer J , Hiss K , Kroll K , Kannt A , Kohlmann M , Linz D , Hubschle T , Rutten H , Wirth K , Schmidt T , Sadowski T |
| Ref : Journal of Medicinal Chemistry , 55 :7636 , 2012 |
| Abstract : |
| PubMedSearch : Ruf_2012_J.Med.Chem_55_7636 |
| PubMedID: 22861813 |
| 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 : |
| PubMedSearch : Kiss_2008_J.Inherit.Metab.Dis_31 Suppl 2_S205 |
| PubMedID: 18937050 |
| Gene_locus related to this paper: human-CTSA |
| Title : Activation of 9-[(R)-2-[[(S)-[[(S)-1-(Isopropoxycarbonyl)ethyl]amino] phenoxyphosphinyl]-methoxy]propyl]adenine (GS-7340) and other tenofovir phosphonoamidate prodrugs by human proteases - Birkus_2008_Mol.Pharmacol_74_92 |
| Author(s) : Birkus G , Kutty N , He GX , Mulato A , Lee W , McDermott M , Cihlar T |
| Ref : Molecular Pharmacology , 74 :92 , 2008 |
| Abstract : |
| PubMedSearch : Birkus_2008_Mol.Pharmacol_74_92 |
| PubMedID: 18430788 |
| 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 : |
| PubMedSearch : Malvagia_2004_Mol.Genet.Metab_82_48 |
| PubMedID: 15110321 |
| Gene_locus related to this paper: human-CTSA |
| 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 : |
| PubMedSearch : Groener_2003_Mol.Genet.Metab_78_222 |
| PubMedID: 12649068 |
| Gene_locus related to this paper: human-CTSA |
| Title : Structural and functional study of K453E mutant protective protein\/cathepsin A causing the late infantile form of galactosialidosis - Takiguchi_2000_J.Hum.Genet_45_200 |
| Author(s) : Takiguchi K , Itoh K , Shimmoto M , Ozand PT , Doi H , Sakuraba H |
| Ref : J Hum Genet , 45 :200 , 2000 |
| Abstract : |
| PubMedSearch : Takiguchi_2000_J.Hum.Genet_45_200 |
| PubMedID: 10944848 |
| 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 : |
| 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 pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A\/protective protein gene - Richard_1998_Hum.Mutat_11_461 |
| Author(s) : Richard C , Tranchemontagne J , Elsliger MA , Mitchell GA , Potier M , Pshezhetsky AV |
| Ref : Hum Mutat , 11 :461 , 1998 |
| Abstract : |
| PubMedSearch : Richard_1998_Hum.Mutat_11_461 |
| PubMedID: 9603439 |
| Gene_locus related to this paper: human-CTSA |
| Title : Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis - |
| Author(s) : Olcay L , Gumruk F , Boduroglu K , Coskun T , Tuncbilek E |
| Ref : J Inherit Metab Dis , 21 :679 , 1998 |
| PubMedID: 9762607 |
| Gene_locus related to this paper: human-CTSA |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Rudenko_1995_Structure_3_1249 |
| PubMedID: 8591035 |
| Gene_locus related to this paper: human-CTSA |
| Title : Hydrops fetalis in four siblings caused by galactosialidosis - |
| Author(s) : Landau D , Meisner I , Zeigler M , Bargal R , Shinwell ES |
| Ref : Isr J Med Sci , 31 :321 , 1995 |
| PubMedID: 7759227 |
| Gene_locus related to this paper: human-CTSA |
| Title : Protective protein for beta-galactosidase, Ppgb, maps to the distal imprinting region of mouse chromosome 2 but is not imprinted - Williamson_1994_Genomics_22_240 |
| Author(s) : Williamson CM , Dutton ER , Beechey CV , Peters J |
| Ref : Genomics , 22 :240 , 1994 |
| Abstract : |
| PubMedSearch : Williamson_1994_Genomics_22_240 |
| PubMedID: 7959780 |
| Gene_locus related to this paper: human-CTSA |
| Title : Exclusion map of the gene for neuraminidase from 10(pter-->\;p15.1) - |
| Author(s) : Tokano T , Horigome H , Shibata S |
| Ref : Clin Genet , 43 :166 , 1993 |
| PubMedID: 8500263 |
| Gene_locus related to this paper: human-CTSA |
| Title : A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus - Rothschild_1993_Am.J.Hum.Genet_52_110 |
| Author(s) : Rothschild CB , Akots G , Hayworth R , Pettenati MJ , Rao PN , Wood P , Stolz FM , Hansmann I , Serino K , Keith TP , Fajan SS , Bowden DW |
| Ref : American Journal of Human Genetics , 52 :110 , 1993 |
| Abstract : |
| PubMedSearch : Rothschild_1993_Am.J.Hum.Genet_52_110 |
| PubMedID: 8094595 |
| Gene_locus related to this paper: human-CTSA |
| Title : Protective protein gene mutations in galactosialidosis - Shimmoto_1993_J.Clin.Invest_91_2393 |
| Author(s) : Shimmoto M , Fukuhara Y , Itoh K , Oshima A , Sakuraba H , Suzuki Y |
| Ref : J Clinical Investigation , 91 :2393 , 1993 |
| Abstract : |
| PubMedSearch : Shimmoto_1993_J.Clin.Invest_91_2393 |
| PubMedID: 8514852 |
| Gene_locus related to this paper: human-CTSA |
| Title : Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts - D'Agrosa_1992_Biochem.J_285 ( Pt 3)_833 |
| Author(s) : D'Agrosa RM , Hubbes M , Zhang S , Shankaran R , Callahan JW |
| Ref : Biochemical Journal , 285 ( Pt 3) :833 , 1992 |
| Abstract : |
| PubMedSearch : D'Agrosa_1992_Biochem.J_285 ( Pt 3)_833 |
| PubMedID: 1497621 |
| Gene_locus related to this paper: human-CTSA |
| Title : A new point mutation of protective protein gene in two Japanese siblings with juvenile galactosialidosis. - |
| Author(s) : Fukuhara Y , Takano T , Shimmoto M , Oshima A , Takeda E , Kuroda Y , Sakuraba H , Suzuki Y |
| Ref : Brain Dysfunction , 5 :319 , 1992 |
| PubMedID: |
| 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 : Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20 - Halal_1992_Am.J.Med.Genet_43_576 |
| Author(s) : Halal F , Chitayat D , Parikh H , Rosenblatt B , Tranchemontagne J , Vekemans M , Potier M |
| Ref : American Journal of Medicine Genet , 43 :576 , 1992 |
| Abstract : |
| PubMedSearch : Halal_1992_Am.J.Med.Genet_43_576 |
| PubMedID: 1605251 |
| 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 |
| 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 : |
| PubMedSearch : Wiegant_1991_Genomics_10_345 |
| PubMedID: 2071143 |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: clinical and molecular analysis of 19 Japanese patients. - |
| Author(s) : Takano T , Shimmoto M , Fukuhara Y , Itoh K , Kase R , Takiyama N , Kobayashi T , Oshima A , Sakuraba H , Suzuki Y |
| Ref : Brain Dysfunction , 4 :271 , 1991 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal protective protein - Jackman_1990_J.Biol.Chem_265_11265 |
| Author(s) : Jackman HL , Tan FL , Tamei H , Beurling-Harbury C , Li XY , Skidgel RA , Erdos EG |
| Ref : Journal of Biological Chemistry , 265 :11265 , 1990 |
| Abstract : |
| PubMedSearch : Jackman_1990_J.Biol.Chem_265_11265 |
| PubMedID: 1694176 |
| Gene_locus related to this paper: human-CTSA |
| Title : Inheritance of an ovine lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase - Prieur_1990_J.Hered_81_245 |
| Author(s) : Prieur DJ , Ahern-Rindell AJ , Murnane RD , Wright RW , Parish SM |
| Ref : Journal of Heredity , 81 :245 , 1990 |
| Abstract : |
| PubMedSearch : Prieur_1990_J.Hered_81_245 |
| PubMedID: 2125614 |
| Gene_locus related to this paper: human-CTSA |
| Title : Japanese-type adult galactosialidosis: a unique and common splice junction mutation causing exon skipping in the protective protein\/carboxypeptidase gene - |
| Author(s) : Shimmoto M , Takano T , Fukuhara Y , Oshima A , Sakuraba H , Suzuki Y |
| Ref : Proc Jpn Acad , 66B :217 , 1990 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities - Kase_1990_Biochem.Biophys.Res.Commun_172_1175 |
| Author(s) : Kase R , Itoh K , Takiyama N , Oshima A , Sakuraba H , Suzuki Y |
| Ref : Biochemical & Biophysical Research Communications , 172 :1175 , 1990 |
| Abstract : |
| PubMedSearch : Kase_1990_Biochem.Biophys.Res.Commun_172_1175 |
| PubMedID: 2244901 |
| 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 : Interspecific genetic complementation analysis evidence that the lysosomal storage disease of sheep with deficiencies of beta-galactosidase and alpha-neuraminidase is due to a mutation of the beta-galactosidase structural gene. (Abstract) - |
| Author(s) : Prieur DJ , Ahern-Rindell AJ |
| Ref : American Journal of Human Genetics , 45 (suppl.) :A213 only , 1989 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. - |
| Author(s) : Ahern-Rindell AJ , Murnane RD , Prieur DJ |
| Ref : Somat Cell Molec Genet , 15 :382 , 1989 |
| PubMedID: |
| 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 : |
| PubMedSearch : Galjart_1988_Cell_54_755 |
| PubMedID: 3136930 |
| 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 |
| Title : Inherited lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase in sheep - Ahern-Rindell_1988_Am.J.Med.Genet_31_39 |
| Author(s) : Ahern-Rindell AJ , Prieur DJ , Murnane RD , Raghavan SS , Daniel PF , McCluer RH , Walkley SU , Parish SM |
| Ref : American Journal of Medicine Genet , 31 :39 , 1988 |
| Abstract : |
| PubMedSearch : Ahern-Rindell_1988_Am.J.Med.Genet_31_39 |
| PubMedID: 3146925 |
| Gene_locus related to this paper: human-CTSA |
| 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 : |
| PubMedSearch : Strisciuglio_1988_Hum.Genet_80_304 |
| PubMedID: 3142815 |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts - Nanba_1987_Biochem.Biophys.Res.Commun_144_138 |
| Author(s) : Nanba E , Tsuji A , Omura K , Suzuki Y |
| Ref : Biochemical & Biophysical Research Communications , 144 :138 , 1987 |
| Abstract : |
| PubMedSearch : Nanba_1987_Biochem.Biophys.Res.Commun_144_138 |
| PubMedID: 3107551 |
| Gene_locus related to this paper: human-CTSA |
| Title : An inherited lysosomal storage disease of sheep associated with deficiencies of beta-galactosidase and alpha-neuraminidase. (Abstract) - |
| Author(s) : Ahern-Rindell AJ , Prieur DJ , Murnane RD |
| Ref : American Journal of Human Genetics , 39 :A3 only , 1986 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes - Palmeri_1986_Am.J.Hum.Genet_38_137 |
| Author(s) : Palmeri S , Hoogeveen AT , Verheijen FW , Galjaard H |
| Ref : American Journal of Human Genetics , 38 :137 , 1986 |
| Abstract : |
| PubMedSearch : Palmeri_1986_Am.J.Hum.Genet_38_137 |
| PubMedID: 3080874 |
| Gene_locus related to this paper: human-CTSA |
| Title : Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders - Mueller_1986_Proc.Natl.Acad.Sci.U.S.A_83_1817 |
| Author(s) : Mueller OT , Henry WM , Haley LL , Byers MG , Eddy RL , Shows TB |
| Ref : Proc Natl Acad Sci U S A , 83 :1817 , 1986 |
| Abstract : |
| PubMedSearch : Mueller_1986_Proc.Natl.Acad.Sci.U.S.A_83_1817 |
| PubMedID: 3081902 |
| Gene_locus related to this paper: human-CTSA |
| Title : The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22 - Sips_1985_Hum.Genet_69_340 |
| Author(s) : Sips HJ , de Wit-Verbeek HA , De Wit J , Westerveld A , Galjaard H |
| Ref : Hum Genet , 69 :340 , 1985 |
| Abstract : |
| PubMedSearch : Sips_1985_Hum.Genet_69_340 |
| PubMedID: 3921454 |
| Gene_locus related to this paper: human-CTSA |
| Title : Ultrastructural study on a severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency) - Yamano_1985_Neuropediatrics_16_109 |
| Author(s) : Yamano T , Shimada M , Sugino H , Dezawa T , Koike M , Okada S , Yabuuchi H |
| Ref : Neuropediatrics , 16 :109 , 1985 |
| Abstract : |
| PubMedSearch : Yamano_1985_Neuropediatrics_16_109 |
| PubMedID: 3925363 |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: low beta-galactosidase activity in serum after long-term clotting - Sakuraba_1985_Ann.Neurol_18_261 |
| Author(s) : Sakuraba H , Iimori Y , Suzuki Y , Kint JA , Akagi M |
| Ref : Annals of Neurology , 18 :261 , 1985 |
| Abstract : |
| PubMedSearch : Sakuraba_1985_Ann.Neurol_18_261 |
| PubMedID: 3929673 |
| Gene_locus related to this paper: human-CTSA |
| Title : beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum - Ishibashi_1984_Arch.Dermatol_120_1344 |
| Author(s) : Ishibashi A , Tsuboi R , Shinmei M |
| Ref : Arch Dermatol , 120 :1344 , 1984 |
| Abstract : |
| PubMedSearch : Ishibashi_1984_Arch.Dermatol_120_1344 |
| PubMedID: 6435542 |
| Gene_locus related to this paper: human-CTSA |
| Title : Identification and chromosome location of genes involved in glycoprotein neuraminidase deficiency disorders. (Abstract) - |
| Author(s) : Mueller OT , Henry WM , Haley LL , Byers MG , Eddy RL , Shows TB |
| Ref : American Journal of Human Genetics , 36 :205S only , 1984 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : Complementation, cross correction, and drug correction studies of combined beta-galactosidase neuraminidase deficiency in human fibroblasts - Strisciuglio_1984_Pediatr.Res_18_167 |
| Author(s) : Strisciuglio P , Creek KE , Sly WS |
| Ref : Pediatr Res , 18 :167 , 1984 |
| Abstract : |
| PubMedSearch : Strisciuglio_1984_Pediatr.Res_18_167 |
| PubMedID: 6422434 |
| Gene_locus related to this paper: human-CTSA |
| Title : Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient - Loonen_1984_Clin.Genet_26_139 |
| Author(s) : Loonen MC , Reuser AJ , Visser P , Arts WF |
| Ref : Clin Genet , 26 :139 , 1984 |
| Abstract : |
| PubMedSearch : Loonen_1984_Clin.Genet_26_139 |
| PubMedID: 6432381 |
| Gene_locus related to this paper: human-CTSA |
| Title : Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine - Li_1983_Am.J.Hum.Genet_35_629 |
| Author(s) : Li YT , Muhiudeen IA , DeGasperi R , Hirabayashi Y , Li SC |
| Ref : American Journal of Human Genetics , 35 :629 , 1983 |
| Abstract : |
| PubMedSearch : Li_1983_Am.J.Hum.Genet_35_629 |
| PubMedID: 6881139 |
| 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 : |
| PubMedSearch : D'Azzo_1982_Proc.Natl.Acad.Sci.U.S.A_79_4535 |
| PubMedID: 6812049 |
| Gene_locus related to this paper: human-CTSA |
| Title : Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency - Mueller_1982_Hum.Genet_60_158 |
| Author(s) : Mueller OT , Shows TB |
| Ref : Hum Genet , 60 :158 , 1982 |
| Abstract : |
| PubMedSearch : Mueller_1982_Hum.Genet_60_158 |
| PubMedID: 7076257 |
| Gene_locus related to this paper: human-CTSA |
| Title : Beta-galactosidase-neuraminidase deficiency: restoration of beta-galactosidase activity by protease inhibitors - Suzuki_1981_J.Biochem_90_271 |
| Author(s) : Suzuki Y , Sakuraba H , Hayashi K , Suzuki K , Imahori K |
| Ref : J Biochem , 90 :271 , 1981 |
| Abstract : |
| PubMedSearch : Suzuki_1981_J.Biochem_90_271 |
| PubMedID: 6793566 |
| Gene_locus related to this paper: human-CTSA |
| Title : beta-Galactosidase-neuraminidase deficiency in adults: deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts - Suzuki_1981_Hum.Genet_58_387 |
| Author(s) : Suzuki Y , Sakuraba H , Potier M , Akagi M , Sakai M , Beppu H |
| Ref : Hum Genet , 58 :387 , 1981 |
| Abstract : |
| PubMedSearch : Suzuki_1981_Hum.Genet_58_387 |
| PubMedID: 7327559 |
| 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 : Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family - Maire_1981_J.Inherit.Metab.Dis_4_221 |
| Author(s) : Maire I , Nivelon-Chevallier AR |
| Ref : J Inherit Metab Dis , 4 :221 , 1981 |
| Abstract : |
| PubMedSearch : Maire_1981_J.Inherit.Metab.Dis_4_221 |
| PubMedID: 6796775 |
| Gene_locus related to this paper: human-CTSA |
| Title : The genetic defect in the various types of human beta-galactosidase deficiency - |
| Author(s) : Hoeksema HL , De Wit J , Westerveld A |
| Ref : Hum Genet , 53 :241 , 1980 |
| PubMedID: 6766901 |
| 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 : |
| PubMedSearch : Hoogeveen_1980_Nature_285_500 |
| PubMedID: 6772959 |
| Gene_locus related to this paper: human-CTSA |
| Title : Assignment of structural beta-galactosidase loci to human chromosomes 3 and 22. (Abstract) - |
| Author(s) : De Wit J , Hoeksema HL , Bootsma D , Westerveld A |
| Ref : Cytogenet Cell Genet , 25 :217 only , 1979 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : Neuraminidase deficiency in the original patient with the Goldberg syndrome - Thomas_1979_Clin.Genet_16_323 |
| Author(s) : Thomas GH , Goldberg MF , Miller CS , Reynolds LW |
| Ref : Clin Genet , 16 :323 , 1979 |
| Abstract : |
| PubMedSearch : Thomas_1979_Clin.Genet_16_323 |
| PubMedID: 519904 |
| Gene_locus related to this paper: human-CTSA |
| Title : Sialidosis: a review of human neuraminidase deficiency - |
| Author(s) : Lowden JA , O'Brien JS |
| Ref : American Journal of Human Genetics , 31 :1 , 1979 |
| PubMedID: 107795 |
| Gene_locus related to this paper: human-CTSA |
| Title : Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies - |
| Author(s) : Wenger DA , Tarby TJ , Wharton C |
| Ref : Biochemical & Biophysical Research Communications , 82 :589 , 1978 |
| PubMedID: 96839 |
| Gene_locus related to this paper: human-CTSA |
| Title : beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature - Suzuki_1977_Hum.Genet_36_219 |
| Author(s) : Suzuki Y , Nakamura N , Fukuoka K , Shimada Y , Uono M |
| Ref : Hum Genet , 36 :219 , 1977 |
| Abstract : |
| PubMedSearch : Suzuki_1977_Hum.Genet_36_219 |
| PubMedID: 404231 |
| Gene_locus related to this paper: human-CTSA |
| Title : Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver - Suzuki_1977_Arch.Neurol_34_157 |
| Author(s) : Suzuki Y , Nakamura N , Shimada Y , Yotsumoto H , Endo H , Nagashima K |
| Ref : Archives of Neurology , 34 :157 , 1977 |
| Abstract : |
| PubMedSearch : Suzuki_1977_Arch.Neurol_34_157 |
| PubMedID: 402903 |
| Gene_locus related to this paper: human-CTSA |
| Title : Regional localization of a beta-galactosidase locus on human chromosome 22 - De Wit_1977_Somatic.Cell.Genet_3_351 |
| Author(s) : De Wit J , Hoeksema HL , Halley D , Hagemeijer A , Bootsma D , Westerveld A |
| Ref : Somatic Cell Genet , 3 :351 , 1977 |
| Abstract : |
| PubMedSearch : De Wit_1977_Somatic.Cell.Genet_3_351 |
| PubMedID: 414365 |
| Gene_locus related to this paper: human-CTSA |
| Title : Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis? - |
| Author(s) : Yamamoto A , Adachi S , Kawamura S , Takahashi M , Kitani T |
| Ref : Archives of Internal Medicine , 134 :627 , 1974 |
| PubMedID: 4278184 |
| Gene_locus related to this paper: human-CTSA |
| Title : Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease - |
| Author(s) : Goldberg MF , Cotlier E , Fichenscher LG , Kenyon K , Enat R , Borowsky SA |
| Ref : Archives of Internal Medicine , 128 :387 , 1971 |
| PubMedID: 4999185 |
| Gene_locus related to this paper: human-CTSA |
| Title : [Ultrastructural study of the hepatic parenchyma in mucopolysaccharidosis] - |
| Author(s) : Berard-Badier M , Adechy-Benkoel L , Chamlian A , Dubois-Gambarelli D , Casanova P , Mariani A |
| Ref : Pathol Biol (Paris) , 18 :117 , 1970 |
| PubMedID: 4245330 |
| Gene_locus related to this paper: human-CTSA |