GBA ELISA Kit for Human(Homo sapiens) | EIAab.comGBA ELISA Kit for Human(Homo sapiens)

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GBA (Gene name),

Glucosylceramidase (Protein name ), GLCM_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

GBA(GC;GLUC);

Protein name:

Glucosylceramidase;

Alternative:

Alglucerase;Acid beta-glucosidase;D-glucosyl-N-acylsphingosine glucohydrolase;Beta-glucocerebrosidase(Beta-GC);Imiglucerase;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with saposin-C.

Function:

N/A

Subcellular Location:

Lysosome membrane Peripheral membrane protein Lumenal side Interaction with saposin-C promotes membrane association.

Protein Attributes:

Sequence length:

536

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

536:

NRSSKDVPLT | IKDPAVGFLE | TISPGYSIHT | YLWRRQ

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

UniGene:

Hs.282997

SMR:

P04062

KEGG:

hsa:2629

String:

P04062

MIM:

168600

Pfam:

PF02055

STRING:

9606.ENSP00000314508

Uniprot:

P04062

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ELISA Kit for Human Glucosylceramidase

Cat.:

E1448h

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96T

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ELISA Kit for Human Glucosylceramidase

Cat.:

E1448m

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96T

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ELISA Kit for Human Glucosylceramidase

Cat.:

E1448b

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Packing:

96T

ELISA Kit for Human Glucosylceramidase

Cat.:

E1448p

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Packing:

96T

CLIA Kit for Human Glucosylceramidase

Cat.:

U1448h

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Packing:

96T

CLIA Kit for Human Glucosylceramidase

Cat.:

U1448p

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96T

CLIA Kit for Human Glucosylceramidase

Cat.:

U1448b

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Packing:

96T

CLIA Kit for Human Glucosylceramidase

Cat.:

U1448m

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Manual:

Looking for manual.

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Packing:

96T

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Polyclonal Antibody for Human Glucosylceramidase

Cat.:

P1448Rb-h

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Glucosylceramidase

Cat.:

P1448Rb-m

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Glucosylceramidase

Protein for Human Glucosylceramidase

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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References

1.

"Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA."
Sorge J. , West C. , Westwood B. , Beutler E.
Proc. Natl. Acad. Sci. U.S.A.82:7289-7293(1985) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT)
tissue: Placenta.
2.

"Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase."
Tsuji S. , Choudary P.V. , Martin B.M. , Winfield S. , Barranger J.A. , Ginns E.I.
J. Biol. Chem.261:50-53(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT);VARIANT LEU-298
tissue: Hepatoma.
3.

"The human glucocerebrosidase gene and pseudogene: structure and evolution."
Horowitz M. , Wilder S. , Horowitz Z. , Reiner O. , Gelbart T. , Beutler E.
Genomics4:87-96(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
tissue: Liver.
4.

"Polymorphisms in the human glucocerebrosidase gene."
Beutler E. , West C. , Gelbart T.
Genomics12:795-800(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
tissue: Liver.
5.

"A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells."
Imai K. , Nakamura M. , Yamada M. , Asano A. , Yokoyama S. , Tsuji S. , Ginns E.I.
Gene136:365-368(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND 3);VARIANTS GD ARG-223; GLY-230; PRO-235; ARG-241; ILE-252 AND ARG-364;VARIANTS GLY-310 AND HIS-368
6.

"Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease."
Winfield S.L. , Tayebi N. , Martin B.M. , Ginns E.I. , Sidransky E.
Genome Res.7:1020-1026(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
7.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS LONG; 4 AND 5);VARIANT MET-408
8.

"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G. , Barlow K.F. , McLay K.E. , Kaul R. , Swarbreck D. , Dunham A. , Scott C.E. , Howe K.L. , Woodfine K. , Spencer C.C.A. , Jones M.C. , Gillson C. , Searle S. , Zhou Y. , Kokocinski F. , McDonald L. , Evans R. , Phillips K. , more...
Nature441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
9.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG)
tissue: Placenta.
10.

"Structural analysis of the human glucocerebrosidase genes."
Reiner O. , Wigderson M. , Horowitz M.
DNA7:107-116(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 1-11
11.

"The human glucocerebrosidase gene has two functional ATG initiator codons."
Sorge J.A. , West C. , Kuhl W. , Treger L. , Beutler E.
Am. J. Hum. Genet.41:1016-1024(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-45
12.

"Structural studies of human placental glucocerebrosidase."
Martin B.M. , Murray G.J. , Coligan J.E. , Raum M. , Brady R.O. , Barranger J.A.
Fed. Proc.43:1869-1869(1984)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 40-44
tissue: Placenta.
13.

"Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system."
Ginns E.I. , Choudary P.V. , Martin B.M. , Winfield S. , Stubblefield B. , Mayor J. , Merkle-Lehman D. , Murray G.J. , Bowers L.A. , Barranger J.A.
Biochem. Biophys. Res. Commun.123:574-580(1984) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 403-416
14.

"Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals."
Tsuji S. , Martin B.M. , Barranger J.A. , Stubblefield B.K. , LaMarca M.E. , Ginns E.I.
Proc. Natl. Acad. Sci. U.S.A.85:2349-2352(1988)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 409-462;VARIANT GD1 SER-409
tissue: Skin.
15.

"Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site."
Dinur T. , Osiecki K.M. , Legler G. , Gatt S. , Desnick R.J. , Grabowski G.A.
Proc. Natl. Acad. Sci. U.S.A.83:1660-1664(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 469-520
tissue: Placenta.
16.

"Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry."
Miao S. , McCarter J.D. , Grace M.E. , Grabowski G.A. , Aebersold R. , Withers S.G.
J. Biol. Chem.269:10975-10978(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: MUTAGENESIS OF GLU-379;ACTIVE SITE;IDENTIFICATION BY MASS SPECTROMETRY
17.

"Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids."
Salvioli R. , Tatti M. , Ciaffoni F. , Vaccaro A.M.
FEBS Lett.472:17-21(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH SAPOSIN-C AND MEMBRANES CONTAINING ANIONIC PHOSPHOLIPIDS
18.

"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
Zhang H. , Li X.-J. , Martin D.B. , Aebersold R.
Nat. Biotechnol.21:660-666(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION AT ASN-98; ASN-185 AND ASN-309
19.

"LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase."
Reczek D. , Schwake M. , Schroder J. , Hughes H. , Blanz J. , Jin X. , Brondyk W. , Van Patten S. , Edmunds T. , Saftig P.
Cell131:770-783(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;INTERACTION WITH SCARB2
20.

"Integral and associated lysosomal membrane proteins."
Schroeder B. , Wrocklage C. , Pan C. , Jaeger R. , Koesters B. , Schaefer H. , Elsaesser H.-P. , Mann M. , Hasilik A.
Traffic8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]
tissue: Placenta.
21.

"Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease."
Neumann J. , Bras J. , Deas E. , O'Sullivan S.S. , Parkkinen L. , Lachmann R.H. , Li A. , Holton J. , Guerreiro R. , Paudel R. , Segarane B. , Singleton A. , Lees A. , Hardy J. , Houlden H. , Revesz T. , Wood N.W.
Brain132:1783-1794(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN PARKINSON DISEASE;VARIANTS GLU-46; CYS-170; GLU-232; GLN-296; SER-409; ALA-419; HIS-448; ASN-482; PRO-483; PRO-495; LEU-497 AND CYS-502
22.

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-98 AND ASN-309
tissue: Liver.
23.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
24.

"X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease."
Dvir H. , Harel M. , McCarthy A.A. , Toker L. , Silman I. , Futerman A.H. , Sussman J.L.
EMBO Rep.4:704-709(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 40-536;GLYCOSYLATION AT ASN-58;DISULFIDE BONDS
25.

"X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease."
Premkumar L. , Sawkar A.R. , Boldin-Adamsky S. , Toker L. , Silman I. , Kelly J.W. , Futerman A.H. , Sussman J.L.
J. Biol. Chem.280:23815-23819(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 40-536 IN COMPLEX WITH SYNTHETIC INHIBITOR;ACTIVE SITE
26.

"Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations."
Liou B. , Kazimierczuk A. , Zhang M. , Scott C.R. , Hegde R.S. , Grabowski G.A.
J. Biol. Chem.281:4242-4253(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 40-536;CHARACTERIZATION OF VARIANTS GD SER-55; GLN-87; ASN-118; GLN-159; LEU-161; VAL-162; VAL-166; ASN-200; PHE-213; PHE-224; GLU-232; GLU-237; LEU-298; ILE-303; CYS-343; ILE-362; LYS-365; GLY-381; LYS-388; TRP-392; CYS-402; SER-409; VAL-410; HIS-419; LYS-421; ARG-429; LEU-433; SER-436; ASN-438; HIS-448; VAL-455; PRO-483; PRO-500 AND PRO-502;MUTAGENESIS OF CYS-43; CYS-57 AND CYS-62
27.

"Structural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease."
Brumshtein B. , Wormald M.R. , Silman I. , Futerman A.H. , Sussman J.L.
Acta Crystallogr. D62:1458-1465(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 40-536;GLYCOSYLATION AT ASN-58; ASN-98 AND ASN-185
28.

"Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease."
Lieberman R.L. , Wustman B.A. , Huertas P. , Powe A.C. Jr. , Pine C.W. , Khanna R. , Schlossmacher M.G. , Ringe D. , Petsko G.A.
Nat. Chem. Biol.3:101-107(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 40-536 IN COMPLEXES WITH ISOFAGOMINE;SUBCELLULAR LOCATION
29.

"Mutations causing Gaucher disease."
Horowitz M. , Zimran A.
Hum. Mutat.3:1-11(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON GD VARIANTS
30.

"Glucocerebrosidase (Gaucher disease)."
Beutler E. , Gelbart T.
Hum. Mutat.8:207-213(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON GD VARIANTS
31.

"Type 2 Gaucher disease: an expanding phenotype."
Tayebi N. , Stone D.L. , Sidransky E.
Mol. Genet. Metab.68:209-219(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON GD VARIANTS
32.

"Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease."
Stone D.L. , Tayebi N. , Orvisky E. , Stubblefield B. , Madike V. , Sidransky E.
Hum. Mutat.15:181-188(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON GD VARIANTS
33.

"Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution."
Beutler E. , Gelbart T.
Ann. Hum. Genet.54:149-153(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GD TYR-255
34.

"Sequence of two alleles responsible for Gaucher disease."
Hong C.M. , Ohashi T. , Yu X.J. , Weiler S. , Barranger J.A.
DNA Cell Biol.9:233-241(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD
35.

"Identification of six new Gaucher disease mutations."
Beutler E. , Gelbart T. , West C.
Genomics15:203-205(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD
36.

"DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent."
Choy F.Y.M. , Wei C. , Applegarth D.A. , McGillivray B.C.
Am. J. Med. Genet.51:156-160(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GD HIS-535
37.

"Two new Gaucher disease mutations."
Beutler E. , Gelbart T.
Hum. Genet.93:209-210(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GD ASN-438
38.

"Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site."
Tuteja R. , Tuteja N. , Lilliu F. , Bembi B. , Galanello R. , Cao A. , Baralle F.E.
Hum. Genet.94:314-315(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD SER-409 AND CYS-457
39.

"Glucocerebrosidase mutations in Gaucher disease."
Beutler E. , Demina A. , Gelbart T.
Mol. Med.1:82-92(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD ASP-215; THR-221; ARG-241; GLN-296; CYS-324; GLY-417 AND ASN-419
40.

"Gaucher disease in Spanish patients: analysis of eight mutations."
Cormand B. , Vilageliu L. , Burguera J.M. , Balcells S. , Gonzalez-Duarte R. , Grinberg D. , Chabas A.
Hum. Mutat.5:303-309(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD SER-409; HIS-448; PRO-483 AND CYS-502
41.

"Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease."
Choy F.Y.M. , Wei C.
Hum. Mutat.5:345-347(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GD SER-217
42.

"The molecular characterization of Gaucher disease in South Africa."
Morar B. , Lane A.B.
Clin. Genet.50:78-84(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD SER-409; LEU-426; LEU-433 AND PRO-483
43.

"Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations."
Kim J.-W. , Liou B.B. , Lai M.-Y. , Ponce E. , Grabowski G.A.
Hum. Mutat.7:214-218(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD LEU-54; GLU-85 AND SER-227
44.

"Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients."
Cormand B. , Vilageliu L. , Balcells S. , Gonzalez-Duatre R. , Chabas A. , Grinberg D.
Hum. Mutat.7:272-274(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD HIS-352 AND GLN-398
45.

"Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese."
Amaral O. , Pinto E. , Fortuna M. , Lacerda L. , Sa Miranda M.C.
Hum. Mutat.8:280-281(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GD1 THR-435
46.

"Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease."
Seeman P.J.V. , Finckh U. , Hoeppner J. , Lakner V. , Liebisch I. , Grau G. , Rolfs A.
Neurology46:1102-1107(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD3 LEU-437 AND ILE-530
47.

"Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses."
Cormand B. , Grinberg D. , Gort L. , Fiumara A. , Barone R. , Vilageliu L. , Chabas A.
Am. J. Med. Genet.70:437-443(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD LEU-414 AND THR-441
48.

"Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients."
Choy F.Y.M. , Humphries M.L. , Shi H.
Am. J. Med. Genet.71:172-178(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD VAL-76; GLU-85; TRP-87; TRP-159; SER-227; ILE-252 AND PRO-483
49.

"Mutation analysis in 46 British and Irish patients with Gaucher's disease."
Hatton C.E. , Cooper A. , Whitehouse C. , Wraith J.E.
Arch. Dis. Child.77:17-22(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GD LYS-501
50.

"Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients."
Grace M.E. , Desnick R.J. , Pastores G.M.
J. Clin. Invest.99:2530-2537(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD TRP-87; GLU-234; ARG-241; ILE-252; ASN-310; LEU-391 AND SER-409
51.

"Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations."
Ida H. , Rennert O.M. , Kawame H. , Maekawa K. , Eto Y.
J. Inherit. Metab. Dis.20:67-73(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD VAL-228; ILE-252; GLY-405; HIS-448; GLN-452; PRO-483 AND CYS-535
52.

"D409H/D409H genotype in Gaucher-like disease."
Uyama E. , Uchino M. , Ida H. , Eto Y. , Owada M.
J. Med. Genet.34:175-175(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PSEUDO-GAUCHER HIS-448
53.

"Six new Gaucher disease mutations."
Demina A. , Beutler E.
Acta Haematol.99:80-82(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD LEU-146; LEU-198; THR-380; ASN-405 AND ARG-432
54.

"Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease."
Germain D.P. , Puech J.-P. , Caillaud C. , Kahn A. , Poenaru L.
Am. J. Hum. Genet.63:415-427(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD
55.

"Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient."
Choy F.Y.M. , Humphries M.L. , Ben-Yoseph Y.
Am. J. Med. Genet.78:92-93(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GD2 TYR-513
56.

"Hematologically important mutations: Gaucher disease."
Beutler E. , Gelbart T.
Blood Cells Mol. Dis.24:2-8(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD
57.

"A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease."
Sinclair G. , Choy F.Y.M. , Humphries L.
Blood Cells Mol. Dis.24:420-427(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD2 LYS-80; CYS-170 AND PRO-483
58.

"A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs."
Parenti G. , Filocamo M. , Titomanlio L. , Rizzolo G. , Silvestro E. , Perretti A. , Gatti R. , Andria G.
Clin. Genet.53:281-285(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GD GLY-392
59.

"Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome."
Cormand B. , Grinberg D. , Gort L. , Chabas A. , Vilageliu L.
Hum. Mutat.11:295-305(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD GLU-152; PRO-173; GLU-428; LEU-430; ILE-431 AND HIS-451
60.

"A novel mutation (V191G) in a German-British type 1 Gaucher disease patient."
Choy F.Y.M. , Humphries M.L. , Ben-Yoseph Y.
Hum. Mutat.11:411-412(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD1 GLY-230 AND SER-409
61.

"Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation."
Wasserstein M.P. , Martignetti J.A. , Zeitlin R. , Lumerman H. , Solomon M. , Grace M.E. , Desnick R.J.
Am. J. Med. Genet.84:334-339(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD1 SER-409 AND LEU-440
62.

"Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients."
Choy F.Y.M. , Wong K. , Shi H.P.
Am. J. Med. Genet.84:484-486(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD ARG-241; CYS-244; ILE-252; HIS-448 AND PRO-483
63.

"Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles."
Hodanov K. , Hrebicek M. , Cervenkov M. , Mrzov L. , Veprekov L. , Zemen J.
Blood Cells Mol. Dis.25:287-298(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD
64.

"Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?"
Stone D.L. , van Diggelen O.P. , de Klerk J.B.C. , Gaillard J.L.J. , Niermeijer M.F. , Willemsen R. , Tayebi N. , Sidransky E.
Eur. J. Hum. Genet.7:505-509(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PERINATAL LETHAL GD ARG-350 AND PHE-437
65.

"Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients."
Sarria A.J. , Giraldo P. , Perez-Calvo J.I. , Pocovi M.
Hum. Mutat.14:88-88(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD PRO-173; TRP-234; SER-409; SER-416; HIS-448 AND PRO-483
66.

"Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease."
Koprivica V. , Stone D.L. , Park J.K. , Callahan M. , Frisch A. , Cohen I.J. , Tayebi N. , Sidransky E.
Am. J. Hum. Genet.66:1777-1786(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD TRP-87; ASN-118; THR-129; ASP-156; GLN-159; TRP-159; LEU-170; ILE-173; CYS-209; PRO-209; SER-227; THR-229; PRO-235; ARG-241; ILE-252; GLN-296; CYS-324; THR-380; MET-408; SER-409; SER-416; LEU-433; TYR-438; HIS-448; PRO-483 AND CYS-502;VARIANT LYS-365
67.

"Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)."
Bodamer O.A.F. , Church H.J. , Cooper A. , Wraith J.E. , Scott C.R. , Scaglia F.
Am. J. Med. Genet.109:328-331(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD SER-55 AND HIS-448
68.

"The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease."
Orvisky E. , Park J.K. , Parker A. , Walker J.M. , Martin B.M. , Stubblefield B.K. , Uyama E. , Tayebi N. , Sidransky E.
Hum. Mutat.19:458-459(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD GLU-175; PRO-201; GLU-237; LEU-290 AND PHE-441
69.

"Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian Gaucher patients."
Filocamo M. , Mazzotti R. , Stroppiano M. , Seri M. , Giona F. , Parenti G. , Regis S. , Corsolini F. , Zoboli S. , Gatti R.
Hum. Mutat.20:234-235(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD THR-198; ARG-241; ARG-270; ILE-400 AND ARG-490
70.

"Gaucher's disease with Parkinson's disease: clinical and pathological aspects."
Bembi B. , Zambito Marsala S. , Sidransky E. , Ciana G. , Carrozzi M. , Zorzon M. , Martini C. , Gioulis M. , Pittis M.G. , Capus L.
Neurology61:99-101(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: POSSIBLE INVOLVEMENT IN PARKINSON DISEASE
71.

"Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype."
Church H.J. , Cooper A. , Stewart F. , Thornton C.M. , Wraith J.E.
Eur. J. Hum. Genet.12:975-978(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GD SER-55
72.

"The N370S (Asn370->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C."
Salvioli R. , Tatti M. , Scarpa S. , Moavero S.M. , Ciaffoni F. , Felicetti F. , Kaneski C.R. , Brady R.O. , Vaccaro A.M.
Biochem. J.390:95-103(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANT GD SER-409
73.

"Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1."
Miocic S. , Filocamo M. , Dominissini S. , Montalvo A.L. , Vlahovicek K. , Deganuto M. , Mazzotti R. , Cariati R. , Bembi B. , Pittis M.G.
Hum. Mutat.25:100-100(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GD1 ASN-63; SER-158; TRP-159; CYS-170; LEU-221; GLU-230; ARG-241; GLN-294; CYS-324; SER-409; ASN-438; LEU-440; HIS-448; CYS-457; ASP-460; PRO-483 AND ARG-490;CHARACTERIZATION OF VARIANTS GD1 ASN-63; SER-158; LEU-221; GLU-230 AND ASP-460
74.

"Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation."
Aharon-Peretz J. , Badarny S. , Rosenbaum H. , Gershoni-Baruch R.
Neurology65:1460-1461(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: POSSIBLE INVOLVEMENT IN PARKINSON DISEASE
75.

"Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients."
Tan E.K. , Tong J. , Fook-Chong S. , Yih Y. , Wong M.C. , Pavanni R. , Zhao Y.
Arch. Neurol.64:1056-1058(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT OF VARIANT GD PRO-483 IN SUSCEPTIBILITY TO PARKINSON DISEASE
76.

"Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders."
Mata I.F. , Samii A. , Schneer S.H. , Roberts J.W. , Griffith A. , Leis B.C. , Schellenberg G.D. , Sidransky E. , Bird T.D. , Leverenz J.B. , Tsuang D. , Zabetian C.P.
Arch. Neurol.65:379-382(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT OF VARIANTS GD SER-409 AND PRO-483 IN SUSCEPTIBILITY TO PARKINSON DISEASE
77.

"Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease."
Sidransky E. , Nalls M.A. , Aasly J.O. , Aharon-Peretz J. , Annesi G. , Barbosa E.R. , Bar-Shira A. , Berg D. , Bras J. , Brice A. , Chen C.M. , Clark L.N. , Condroyer C. , De Marco E.V. , Durr A. , Eblan M.J. , Fahn S. , Farrer M.J. , more...
N. Engl. J. Med.361:1651-1661(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT OF VARIANTS GD SER-409 AND PRO-483 IN SUSCEPTIBILITY TO PARKINSON DISEASE

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