[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, VARIANTS LINCL ARG-365 AND TYR-365, AND VARIANT HIS-175.
TISSUE=Placenta;
DOI=10.1126/science.277.5333.1802; PubMed=9295267 [NCBI, ExPASy, EBI, Israel, Japan]
Sleat D.E.,
Donnelly R.J.,
Lackland H.,
Liu C.-G.,
Sohar I.,
Pullarkat R.K.,
Lobel P.;
"Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.";
Science 277:1802-1805(1997).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
DOI=10.1006/geno.1998.5328; PubMed=9653647 [NCBI, ExPASy, EBI, Israel, Japan]
Liu C.-G.,
Sleat D.E.,
Donnelly R.J.,
Lobel P.;
"Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis.";
Genomics 50:206-212(1998).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Brain cortex;
Junaid M.A.,
Barua M.,
Pullarkat R.K.;
"Bovine brain homolog of the tripeptidyl peptidase I which is deficient in the human classic late-infantile neuronal ceroid lipofuscinosis.";
Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Kim J.W.;
"Identification of a human growth inhibition gene 1 (GIG1).";
Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
DOI=10.1101/gr.1293003; PubMed=12975309 [NCBI, ExPASy, EBI, Israel, Japan]
Clark H.F.,
Gurney A.L.,
Abaya E.,
Baker K.,
Baldwin D.T.,
Brush J.,
Chen J.,
Chow B.,
Chui C.,
Crowley C.,
Currell B.,
Deuel B.,
Dowd P.,
Eaton D.,
Foster J.S.,
Grimaldi C.,
Gu Q.,
Hass P.E.,
Heldens S., ![]()
Huang A.,
Kim H.S.,
Klimowski L.,
Jin Y.,
Johnson S.,
Lee J.,
Lewis L.,
Liao D.,
Mark M.R.,
Robbie E.,
Sanchez C.,
Schoenfeld J.,
Seshagiri S.,
Simmons L.,
Singh J.,
Smith V.,
Stinson J.,
Vagts A.,
Vandlen R.L.,
Watanabe C.,
Wieand D.,
Woods K.,
Xie M.-H.,
Yansura D.G.,
Yi S.,
Yu G.,
Yuan J.,
Zhang M.,
Zhang Z.,
Goddard A.D.,
Wood W.I.,
Godowski P.J.,
Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Adipose tissue;
Suzuki Y.,
Sugano S.,
Totoki Y.,
Toyoda A.,
Takeda T.,
Sakaki Y.,
Tanaka A.,
Yokoyama S.;
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
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[7]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Lymph;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[8]
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PROTEIN SEQUENCE OF 20-24; 196-200 AND 466-492, MUTAGENESIS, AND CHARACTERIZATION.
DOI=10.1074/jbc.M008562200; PubMed=11054422 [NCBI, ExPASy, EBI, Israel, Japan]
Lin L.,
Sohar I.,
Lackland H.,
Lobel P.;
"The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH.";
J. Biol. Chem. 276:2249-2255(2001).
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[9]
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SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
DOI=10.1021/pr025562r; PubMed=12643545 [NCBI, ExPASy, EBI, Israel, Japan]
Basrur V.,
Yang F.,
Kushimoto T.,
Higashimoto Y.,
Yasumoto K.,
Valencia J.,
Muller J.,
Vieira W.D.,
Watabe H.,
Shabanowitz J.,
Hearing V.J.,
Hunt D.F.,
Appella E.;
"Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.";
J. Proteome Res. 2:69-79(2003).
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[10]
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GLYCOSYLATION AT ASN-443.
DOI=10.1038/nbt827; PubMed=12754519 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang H.,
Li X.-J.,
Martin D.B.,
Aebersold R.;
"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.";
Nat. Biotechnol. 21:660-666(2003).
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[11]
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REVIEW ON VARIANTS.
DOI=10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.3.CO;2-1; PubMed=10477428 [NCBI, ExPASy, EBI, Israel, Japan]
Mole S.E.,
Mitchison H.M.,
Munroe P.B.;
"Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.";
Hum. Mutat. 14:199-215(1999).
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[12]
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SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
DOI=10.1021/pr060363j; PubMed=17081065 [NCBI, ExPASy, EBI, Israel, Japan]
Chi A.,
Valencia J.C.,
Hu Z.-Z.,
Watabe H.,
Yamaguchi H.,
Mangini N.J.,
Huang H.,
Canfield V.A.,
Cheng K.C.,
Yang F.,
Abe R.,
Yamagishi S.,
Shabanowitz J.,
Hearing V.J.,
Wu C.,
Appella E.,
Hunt D.F.;
"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.";
J. Proteome Res. 5:3135-3144(2006).
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[13]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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[14]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-210; ASN-222; ASN-313 AND ASN-443, AND MASS SPECTROMETRY.
TISSUE=Liver;
DOI=10.1021/pr8008012; PubMed=19159218 [NCBI, ExPASy, EBI, Israel, Japan]
Chen R.,
Jiang X.,
Sun D.,
Han G.,
Wang F.,
Ye M.,
Wang L.,
Zou H.;
"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.";
J. Proteome Res. 8:651-661(2009).
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[15]
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VARIANTS LINCL ARG-77; ASN-287; LYS-343; ARG-365; TYR-365; ASP-385; GLU-389; HIS-422; HIS-447; GLU-454 AND LEU-475, AND VARIANT ARG-100.
DOI=10.1086/302427; PubMed=10330339 [NCBI, ExPASy, EBI, Israel, Japan]
Sleat D.E.,
Gin R.M.,
Sohar I.,
Wisniewski K.,
Sklower-Brooks S.,
Pullarkat R.K.,
Palmer D.N.,
Lerner T.J.,
Boustany R.-M.N.,
Uldall P.,
Siakotos A.N.,
Donnelly R.J.,
Lobel P.;
"Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.";
Am. J. Hum. Genet. 64:1511-1523(1999).
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[16]
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VARIANT LINCL CYS-206.
DOI=10.1002/1531-8249(200002)47:2<254::AID-ANA19>3.3.CO;2-Z; PubMed=10665500 [NCBI, ExPASy, EBI, Israel, Japan]
Berry-Kravis E.,
Sleat D.E.,
Sohar I.,
Meyer P.,
Donnelly R.,
Lobel P.;
"Prenatal testing for late infantile neuronal ceroid lipofuscinosis.";
Ann. Neurol. 47:254-257(2000).
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[17]
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VARIANTS LINCL GLN-127; VAL-284; ASN-428 AND ARG-473.
DOI=10.1097/00125817-200011000-00002; PubMed=11339651 [NCBI, ExPASy, EBI, Israel, Japan]
Zhong N.,
Moroziewicz D.N.,
Ju W.,
Jurkiewicz A.,
Johnston L.,
Wisniewski K.E.,
Brown W.T.;
"Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.";
Genet. Med. 2:312-318(2000).
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[18]
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VARIANT LINCL ARG-473.
DOI=10.1002/1096-8628(2001)9999:9999<::AID-AJMG1145>3.0.CO;2-Z; PubMed=11241479 [NCBI, ExPASy, EBI, Israel, Japan]
Lam C.W.,
Poon P.M.,
Tong S.F.,
Ko C.H.;
"Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.";
Am. J. Med. Genet. 99:161-163(2001).
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[19]
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CHARACTERIZATION OF VARIANTS ARG-100; GLU-389 AND HIS-447.
DOI=10.1002/humu.1170; PubMed=11462245 [NCBI, ExPASy, EBI, Israel, Japan]
Lin L.,
Lobel P.;
"Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations.";
Hum. Mutat. 18:165-165(2001).
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[20]
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VARIANTS LINCL GLN-127; SER-286 AND PRO-353.
DOI=10.1002/ajmg.10660; PubMed=12376936 [NCBI, ExPASy, EBI, Israel, Japan]
Steinfeld R.,
Heim P.,
von Gregory H.,
Meyer K.,
Ullrich K.,
Goebel H.H.,
Kohlschutter A.;
"Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.";
Am. J. Med. Genet. 112:347-354(2002).
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[21]
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VARIANTS LINCL MET-277; PRO-278; VAL-284 AND CYS-481.
DOI=10.1136/jmg.39.11.822; PubMed=12414822 [NCBI, ExPASy, EBI, Israel, Japan]
Ju W.,
Zhong R.,
Moore S.,
Moroziewicz D.,
Currie J.R.,
Parfrey P.,
Brown W.T.,
Zhong N.;
"Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.";
J. Med. Genet. 39:822-825(2002).
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[22]
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VARIANT LINCL HIS-206.
PubMed=12698559 [NCBI, ExPASy, EBI, Israel, Japan]
Bukina A.M.,
Tsvetkova I.V.,
Semiachkina A.N.,
Il'ina E.S.;
"Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation.";
Vopr. Med. Khim. 48:594-598(2002).
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