GLB1 ELISA Kit for Human(Homo sapiens) | EIAab.comGLB1 ELISA Kit for Human(Homo sapiens)

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GLB1 (Gene name),

Beta-galactosidase (Protein name ), BGAL_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

GLB1(ELNR1);

Protein name:

Beta-galactosidase;

Alternative:

Elastin receptor 1;Acid beta-galactosidase(Lactase);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers.

Subcellular Location:

Isoform 2 Cytoplasm perinuclear region Localized to the perinuclear area of the cytoplasm but not to lysosomes.

Protein Attributes:

Sequence length:

677

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

677:

DHPSKPVEKR | LMPPPPQKNK | DSWLDHV

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

SMR:

P16278

STRING:

9606.ENSP00000306920

Pfam:

PF01301

UniGene:

Hs.443031

KEGG:

hsa:2720

String:

P16278

MIM:

230500

Uniprot:

P16278

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ELISA Kit for Human Beta-galactosidase

Cat.:

E0196h

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96T

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ELISA Kit for Human Beta-galactosidase

Cat.:

E0196b

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96T

ELISA Kit for Human Beta-galactosidase

Cat.:

E0196m

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96T

ELISA Kit for Human Beta-galactosidase

Cat.:

E0196d

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Packing:

96T

CLIA Kit for Human Beta-galactosidase

Cat.:

U0196b

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Packing:

96T

CLIA Kit for Human Beta-galactosidase

Cat.:

U0196m

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Packing:

96T

CLIA Kit for Human Beta-galactosidase

Cat.:

U0196d

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Packing:

96T

CLIA Kit for Human Beta-galactosidase

Cat.:

U0196h

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Manual:

Looking for manual.

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Packing:

96T

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Polyclonal Antibody for Human Beta-galactosidase

Cat.:

P0196Rb-m

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Beta-galactosidase

Cat.:

P0196Rb-h

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Beta-galactosidase

Protein for Human Beta-galactosidase

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.

"Cloning, sequencing, and expression of cDNA for human beta-galactosidase."
Oshima A. , Tsuji A. , Nagao Y. , Sakuraba H. , Suzuki Y.
Biochem. Biophys. Res. Commun.157:238-244(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 [MRNA] (ISOFORM 1)
tissue: Placenta.
2.

"Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein."
Morreau H. , Galjart N.J. , Gillemans N. , Willemsen R. , van der Horst G.T.J. , D'Azzo A.
J. Biol. Chem.264:20655-20663(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 [MRNA] (ISOFORMS 1 AND 2);PARTIAL PROTEIN SEQUENCE;VARIANT LEU-10
tissue: Testis.
3.

"Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA."
Yamamoto Y. , Hake C.A. , Martin B.M. , Kretz K.A. , Ahern-Rindell A.J. , Naylor S.L. , Mudd M. , O'Brien J.S.
DNA Cell Biol.9:119-127(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT LEU-10
4.

"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 1 AND 3);VARIANT LEU-10
5.

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2004-10) to the EMBL/GenBank/DDBJ databases

[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 1);VARIANT LEU-10
6.

"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M. , Scherer S.E. , Kaul R. , Wang J. , Yu J. , Sudbrak R. , Buhay C.J. , Chen R. , Cree A. , Ding Y. , Dugan-Rocha S. , Gill R. , Gunaratne P. , Harris R.A. , Hawes A.C. , Hernandez J. , Hodgson A.V. , Hume J. , more...
Nature440:1194-1198(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];VARIANT CYS-521
7.

"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 1);VARIANT LEU-10
tissue: Colon.
8.

"The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase."
Hinek A. , Rabinovitch M. , Keeley F. , Okamura-Oho Y. , Callahan J.
J. Clin. Invest.91:1198-1205(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: DOMAIN ELASTIN/LAMININ BINDING
9.

"Biological roles of the non-integrin elastin/laminin receptor."
Hinek A.
Biol. Chem.377:471-480(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: FUNCTION (ISOFORM 2)
10.

"The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein."
Privitera S. , Prody C.A. , Callahan J.W. , Hinek A.
J. Biol. Chem.273:6319-6326(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: IDENTITY OF BETA-GALACTOSIDASE-RELATED PROTEIN WITH EBP
11.

"Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein."
Callahan J.W.
Biochim. Biophys. Acta1455:85-103(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
12.

"Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase."
Hinek A. , Zhang S. , Smith A.C. , Callahan J.W.
Am. J. Hum. Genet.67:23-36(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: ELASTIC-FIBER ASSEMBLY STUDIES
13.

"Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach."
Lewandrowski U. , Moebius J. , Walter U. , Sickmann A.
Mol. Cell. Proteomics5:226-233(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-464
tissue: Platelet.
14.

"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-464 AND ASN-555
tissue: Liver.
15.

"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]
16.

"Human beta-galactosidase gene mutations in morquio B disease."
Oshima A. , Yoshida K. , Shimmoto M. , Fukuhara Y. , Sakuraba H. , Suzuki Y.
Am. J. Hum. Genet.49:1091-1093(1991) [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 MPS4B LEU-273; HIS-482 AND CYS-509;VARIANT GM1G1 CYS-494
17.

"GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients."
Nishimoto J. , Nanba E. , Inui K. , Okada S. , Suzuki K.
Am. J. Hum. Genet.49:566-574(1991) [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 GM1G1 CYS-49;VARIANT GM1G3 THR-51;VARIANT GM1G2 CYS-201
18.

"Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases."
Yoshida K. , Oshima A. , Shimmoto M. , Fukuhara Y. , Sakuraba H. , Yanagisawa N. , Suzuki Y.
Am. J. Hum. Genet.49:435-442(1991) [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 GM1G3 THR-51 AND GLN-457;VARIANTS GM1G1 ARG-123 AND CYS-316;VARIANT GM1G2 CYS-201
19.

"A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient."
Mosna G. , Fattore S. , Tubiello G. , Brocca S. , Trubia M. , Gianazza E. , Gatti R. , Danesino C. , Minelli A. , Piantanida M.
Hum. Genet.90:247-250(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: VARIANT GM1G1 HIS-482
20.

"Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients."
Boustany R.-M.N. , Qian W.-H. , Suzuki K.
Am. J. Hum. Genet.53:881-888(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 GM1G1 CYS-208 AND ARG-578;VARIANTS GM1G2 HIS-590 AND GLY-632
21.

"Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis."
Chakraborty S. , Rafi M.A. , Wenger D.A.
Am. J. Hum. Genet.54:1004-1013(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 GM1G3 MET-82
22.

"Novel missense mutations in beta-galactosidase that result in GM1-gangliosidosis."
Hilson W.L. , Okamura-Oho Y. , Zhang S. , Clarke J.T.R. , Mahuran D. , Callahan J.W.
Am. J. Hum. Genet.55:A223-A223(1994)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM1G1 SER-148 AND ALA-216;VARIANT GM1G3 TYR-214;VARIANT GLY-532
23.

"Clinical and molecular analysis of a Japanese boy with Morquio B disease."
Ishii N. , Oohira T. , Oshima A. , Sakuraba H. , Endo F. , Matsuda I. , Sukegawa K. , Orii T. , Suzuki Y.
Clin. Genet.48:103-108(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 MPS4B HIS-83 AND CYS-482
24.

"Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease."
Suzuki Y. , Sakuraba H. , Oshima A.

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GM1G3 SER-263
25.

"Identification of new mutations in six Italian patients affected by a variant form of infantile GM1-gangliosidosis with severe cardiomyopathy."
Morrone A. , Bardelli T. , Donati M.A. , Giorgi M. , Di Rocco R. , Gatti R. , Taddeucci G. , Ricci R. , D'Azzo A. , Zammarchi E.
Am. J. Hum. Genet.61:A258-A258(1997)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GM1G1 HIS-59; ASN-591 AND CYS-591
26.

"Beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis."
Kaye E.M. , Shalish C. , Livermore J. , Taylor H.A. , Stevenson R.E. , Breakefield X.O.
J. Child Neurol.12:242-247(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 SLOWLY PROGRESSIVE GM1-GANGLIOSIDOSIS HIS-201; SER-266 AND CYS-509
27.

"Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease."
Bagshaw R.D. , Zhang S. , Hinek A. , Skomorowski M.-A. , Whelan D. , Clarke J.T.R. , Callahan J.W.
Biochim. Biophys. Acta1588:247-253(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 MPS4B GLU-438; LYS-484 AND ALA-500
28.

"Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis."
Silva C.M.D. , Severini M.H. , Sopelsa A. , Coelho J.C. , Zaha A. , d'Azzo A. , Giugliani R.
Hum. Mutat.13:401-409(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 GM1G1 HIS-59; SER-121; CYS-208; MET-240 AND ASN-491;VARIANTS LEU-10; CYS-521 AND GLY-532
29.

"Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis."
Zhang S. , Bagshaw R. , Hilson W. , Oho Y. , Hinek A. , Clarke J.T.R. , Hinek A. , Callahan J.W.
Biochem. J.348:621-632(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 GM1G1 SER-148 AND ASN-332;VARIANT GLY-532
30.

"Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement."
Morrone A. , Bardelli T. , Donati M.A. , Giorgi M. , Di Rocco M. , Gatti R. , Parini R. , Ricci R. , Taddeucci G. , D'Azzo A. , Zammarchi E.
Hum. Mutat.15:354-366(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 GM1G1 HIS-59; HIS-482; ASN-591 AND CYS-591;VARIANTS GM1G2 HIS-201 AND ASP-579
31.

"Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B."
Paschke E. , Milos I. , Kreimer-Erlacher H. , Hoefler G. , Beck M. , Hoeltzenbein M. , Kleijer W. , Levade T. , Michelakakis H. , Radeva B.
Hum. Genet.109:159-166(2001) [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 MPS4B LEU-273; PRO-408 AND ALA-500;VARIANTS GM1G3 MET-82; ASP-270 AND TYR-281;VARIANT LEU-10
32.

"Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient."
Caciotti A. , Bardelli T. , Cunningham J. , D'Azzo A. , Zammarchi E. , Morrone A.
Hum. Genet.113:44-50(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: VARIANTS GM1G2 TRP-68 AND CYS-201;CHARACTERIZATION OF VARIANTS GM1G2 TRP-68 AND CYS-201;VARIANT PHE-436;MODULATING ACTION OF VARIANT PHE-436
33.

"Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis."
Georgiou T. , Drousiotou A. , Campos Y. , Caciotti A. , Sztriha L. , Gururaj A. , Ozand P. , Zammarchi E. , Morrone A. , D'Azzo A.
Hum. Mutat.24:352-352(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 GM1G1 TYR-151;CHARACTERIZATION OF VARIANT GM1G1 TYR-151
34.

Georgiou T. , Drousiotou A. , Campos Y. , Caciotti A. , Sztriha L. , Gururaj A. , Ozand P. , Zammarchi E. , Morrone A. , D'Azzo A.
Hum. Mutat.24:536-537(2004)

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

"Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis."
Caciotti A. , Donati M.A. , Boneh A. , d'Azzo A. , Federico A. , Parini R. , Antuzzi D. , Bardelli T. , Nosi D. , Kimonis V. , Zammarchi E. , Morrone A.
Hum. Mutat.25:285-292(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 GM1G1 HIS-59; CYS-59; CYS-208; MET-239; TYR-281; HIS-482; ASP-579; ASN-591 AND CYS-591;VARIANT GM1G2 HIS-201;VARIANT CYS-521;CHARACTERIZATION OF VARIANTS GM1G1 HIS-59; CYS-59; CYS-208; MET-239; TYR-281; HIS-482; ASP-579; ASN-591 AND CYS-591;CHARACTERIZATION OF VARIANT GM1G2 HIS-201;CHARACTERIZATION OF VARIANT CYS-521
36.

"Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis."
Gururaj A. , Sztriha L. , Hertecant J. , Johansen J.G. , Georgiou T. , Campos Y. , Drousiotou A. , d'Azzo A.
J. Child Neurol.20:57-60(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 GM1G1 LEU-10 AND TYR-151
37.

"Dystonia and parkinsonism in GM1 type 3 gangliosidosis."
Roze E. , Paschke E. , Lopez N. , Eck T. , Yoshida K. , Maurel-Ollivier A. , Doummar D. , Caillaud C. , Galanaud D. , Billette de Villemeur T. , Vidailhet M. , Roubergue A.
Mov. Disord.20:1366-1369(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 GM1G3 HIS-49; GLU-73; CYS-148 AND GLU-438
38.

"Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among Gypsies."
Santamaria R. , Chabas A. , Coll M.J. , Miranda C.S. , Vilageliu L. , Grinberg D.
Hum. Mutat.27:1060-1060(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: VARIANTS GM1G1 CYS-59; HIS-59; SER-136; VAL-151; PRO-173; CYS-199; ASP-272; ASN-346; CYS-347; PRO-420; ARG-422; ASN-441 AND CYS-590;VARIANT GM1G2 SER-264;VARIANTS GM1G3 HIS-201 AND LYS-420;VARIANTS MPS4B CYS-83; CYS-444; SER-494 AND ALA-500;VARIANTS PHE-436; CYS-521 AND GLY-532
39.

"Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies."
Tatano Y. , Takeuchi N. , Kuwahara J. , Sakuraba H. , Takahashi T. , Takada G. , Itoh K.
J. Med. Invest.53:103-112(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: VARIANTS MPS4B LEU-273; HIS-482 AND CYS-509;VARIANTS GM1G1 CYS-201; HIS-201 AND HIS-318
40.

"Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America."
Santamaria R. , Blanco M. , Chabas A. , Grinberg D. , Vilageliu L.
Clin. Genet.71:273-279(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: VARIANTS GM1G1 CYS-59; HIS-59; VAL-134; LEU-147 DEL; SER-162; CYS-208; ASP-272; 377-VAL--LYS-381 DEL; TYR-491; LEU-549 AND CYS-590;VARIANT GM1G2 HIS-201;VARIANT GM1G3 ARG-155;VARIANTS GM1-GANGLIOSIDOSIS LEU-434 AND GLU-554
41.

"Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis."
Gort L. , Santamaria R. , Grinberg D. , Vilageliu L. , Chabas A.
Clin. Genet.72:109-111(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: VARIANT TRP-595;CHARACTERIZATION OF VARIANT TRP-595
42.

"GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase."
Hofer D. , Paul K. , Fantur K. , Beck M. , Buerger F. , Caillaud C. , Fumic K. , Ledvinova J. , Lugowska A. , Michelakakis H. , Radeva B. , Ramaswami U. , Plecko B. , Paschke E.
Hum. Mutat.30:1214-1221(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: VARIANTS GM1G1 HIS-59; THR-132; ARG-184; ASP-190; CYS-201; HIS-201; MET-239; HIS-255; ILE-329; GLU-332; ASN-346; GLN-442 AND SER-597;VARIANTS GM1G2 GLN-68; ARG-155 AND HIS-333;VARIANTS GM1G3 MET-82; ASP-270 AND GLU-438;VARIANTS MPS4B PHE-149; TYR-198; LEU-273; ALA-397; PRO-408 AND ALA-500;CHARACTERIZATION OF VARIANTS GM1G1 THR-132; ARG-184; ASP-190; CYS-201; HIS-201; HIS-255; ILE-329; GLU-332 AND SER-597;CHARACTERIZATION OF VARIANTS GM1G2 GLN-68; ARG-155 AND HIS-333;CHARACTERIZATION OF VARIANTS GM1G3 ASP-270 AND GLU-438;CHARACTERIZATION OF VARIANTS MPS4B PHE-149; TYR-198; LEU-273; ALA-397; PRO-408 AND ALA-500

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