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 E

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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PubMedID: 34683949
Gene_locus related to this paper: human-CTSA

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Author(s) : Li J , Shi J , Xiao J , Tran L , Wang X , Zhu HJ
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PubMedID: 34933885
Gene_locus related to this paper: human-CES1 , human-CTSA

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Author(s) : Bouknight KD , Jurkouich KM , Compton JR , Khavrutskii IV , Guelta MA , Harvey SP , Legler PM
Ref : Biochemical Pharmacology , :113980 , 2020
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
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
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
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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
PubMedID: 26036949
Gene_locus related to this paper: human-CTSA

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
PubMedID: 24530914
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
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
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
PubMedID: 24447064
Gene_locus related to this paper: human-ABHD10 , human-ACOT1 , human-ACOT2 , human-CTSA , human-SCPEP1 , mouse-abhda

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
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
PubMedID: 22861813
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
PubMedID: 18430788
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
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
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
PubMedID: 12649068
Gene_locus related to this paper: human-CTSA

Title : The DNA sequence and comparative analysis of human chromosome 20 - Deloukas_2001_Nature_414_865
Author(s) : Deloukas P , Matthews LH , Ashurst J , Burton J , Gilbert JG , Jones M , Stavrides G , Almeida JP , Babbage AK , Bagguley CL , Bailey J , Barlow KF , Bates KN , Beard LM , Beare DM , Beasley OP , Bird CP , Blakey SE , Bridgeman AM , Brown AJ , Buck D , Burrill W , Butler AP , Carder C , Carter NP , Chapman JC , Clamp M , Clark G , Clark LN , Clark SY , Clee CM , Clegg S , Cobley VE , Collier RE , Connor R , Corby NR , Coulson A , Coville GJ , Deadman R , Dhami P , Dunn M , Ellington AG , Frankland JA , Fraser A , French L , Garner P , Grafham DV , Griffiths C , Griffiths MN , Gwilliam R , Hall RE , Hammond S , Harley JL , Heath PD , Ho S , Holden JL , Howden PJ , Huckle E , Hunt AR , Hunt SE , Jekosch K , Johnson CM , Johnson D , Kay MP , Kimberley AM , King A , Knights A , Laird GK , Lawlor S , Lehvaslaiho MH , Leversha M , Lloyd C , Lloyd DM , Lovell JD , Marsh VL , Martin SL , McConnachie LJ , McLay K , McMurray AA , Milne S , Mistry D , Moore MJ , Mullikin JC , Nickerson T , Oliver K , Parker A , Patel R , Pearce TA , Peck AI , Phillimore BJ , Prathalingam SR , Plumb RW , Ramsay H , Rice CM , Ross MT , Scott CE , Sehra HK , Shownkeen R , Sims S , Skuce CD , Smith ML , Soderlund C , Steward CA , Sulston JE , Swann M , Sycamore N , Taylor R , Tee L , Thomas DW , Thorpe A , Tracey A , Tromans AC , Vaudin M , Wall M , Wallis JM , Whitehead SL , Whittaker P , Willey DL , Williams L , Williams SA , Wilming L , Wray PW , Hubbard T , Durbin RM , Bentley DR , Beck S , Rogers J
Ref : Nature , 414 :865 , 2001
PubMedID: 11780052
Gene_locus related to this paper: human-ABHD12 , human-ABHD16B , human-CTSA , human-NDRG3 , human-RBBP9

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
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
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
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
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
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
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
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
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
PubMedID: 8514852
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
PubMedID: 1605251
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
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
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
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
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
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
PubMedID: 1694176
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
PubMedID: 2148053
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
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
PubMedID: 2244901
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
PubMedID: 3136930
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
PubMedID: 3142815
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
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
PubMedID: 3146925
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
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
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
PubMedID: 3081902
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
PubMedID: 3929673
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
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
PubMedID: 3925363
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
PubMedID: 6422434
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
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 : 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
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
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
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
PubMedID: 7076257
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
PubMedID: 6796775
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
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
PubMedID: 7327559
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
PubMedID: 6772959
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 : 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 : 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
PubMedID: 519904
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
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
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
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