ARSA ELISA Kit for Human(Homo sapiens) | EIAab.comARSA ELISA Kit for Human(Homo sapiens)

Search Protein-oriented Product center.

For antibodies, ELISA/CLIA, proteins... Product center

Tips

Index > Protein center > ARSA(Gene name) > Human

ARSA (Gene name),

Arylsulfatase A (Protein name ), ARSA_HUMAN from NCBI database.

top

General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

Feedback

Gene name:

ARSA;

Protein name:

Arylsulfatase A(ASA);

Alternative:

Cerebroside-sulfatase;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1.

Function:

Hydrolyzes cerebroside sulfate.

Subcellular Location:

Lysosome

Protein Attributes:

Sequence length:

507

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

507:

HCPDPHA

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

Please Sign in.

Related Databases

String:

P15289

UniGene:

Hs.88251

KEGG:

hsa:410

SMR:

P15289

MIM:

250100

Pfam:

PF00884

UniGene:

Hs.731715

STRING:

9606.ENSP00000216124

Uniprot:

P15289

FOR

ELISA Kit for Human ASA

Cat.:

E0256h

Price:

Please sign in first.

Manual:

Looking for manual.

MSDS:

Please sign in first.

Packing:

96T

Range:

Please sign in first.

ELISA Kit for Human ASA

Cat.:

E0256m

Price:

Please sign in first.

Manual:

Looking for manual.

MSDS:

Please sign in first.

Packing:

96T

Range:

Please sign in first.

ELISA Kit for Human ASA

Cat.:

E0256b

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human ASA

Cat.:

U0256b

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human ASA

Cat.:

U0256h

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human ASA

Cat.:

U0256m

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

Polyclonal Antibody for Human ASA

Cat.:

P0256Rb-h

Price:

Please sign in first.

Packing:

40ug/0.2ml

Polyclonal Antibody for Human ASA

Cat.:

P0256Rb-m

Price:

Please sign in first.

Packing:

40ug/0.2ml

Polyclonal Antibody for Human ASA

Monoclonal Antibody for Human ASA

Protein for Human ASA

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

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

Linearity

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

References

1.

"Cloning and expression of human arylsulfatase A."
Stein C. , Gieselmann V. , Kreysing J. , Schmidt B. , Pohlmann R. , Waheed A. , Meyer H.E. , O'Brien J.S. , von Figura K.
J. Biol. Chem.264:1252-1259(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] (ISOFORM 1)
2.

"Structure of the arylsulfatase A gene."
Kreysing J. , von Figura K. , Gieselmann V.
Eur. J. Biochem.191:627-631(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 [GENOMIC DNA]
3.

"Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19."
Oshikawa M. , Usami R. , Kato S.
Mol. Vis.15:482-494(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
4.

"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E. , Wright C.L. , Edwards C.A. , Davis M.P. , Grinham J.A. , Cole C.G. , Goward M.E. , Aguado B. , Mallya M. , Mokrab Y. , Huckle E.J. , Beare D.M. , Dunham I.
Genome Biol.5:R84.1-R84.11(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)
5.

"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 2);VARIANT SER-391
tissue: Testis.
6.

NIEHS SNPs program
Submitted (2003-04) 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 [GENOMIC DNA];VARIANTS LEU-82; CYS-193; SER-350; VAL-356; SER-391; SER-440 AND HIS-496
7.

"The DNA sequence of human chromosome 22."
Dunham I. , Hunt A.R. , Collins J.E. , Bruskiewich R. , Beare D.M. , Clamp M. , Smink L.J. , Ainscough R. , Almeida J.P. , Babbage A.K. , Bagguley C. , Bailey J. , Barlow K.F. , Bates K.N. , Beasley O.P. , Bird C.P. , Blakey S.E. , Bridgeman A.M. , more...
Nature402:489-495(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
8.

"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 SER-391
tissue: B-cell.
9.

"Proteolytic processing of human lysosomal arylsulfatase A."
Fujii T. , Kobayashi T. , Honke K. , Gasa S. , Ishikawa M. , Shimizu T. , Makita A.
Biochim. Biophys. Acta1122:93-98(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: PROTEIN SEQUENCE OF 19-33 AND 434-479;SUBUNIT
10.

"A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency."
Schmidt B. , Selmer T. , Ingendoh A. , von Figura K.
Cell82:271-278(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: PARTIAL PROTEIN SEQUENCE;IDENTIFICATION BY MASS SPECTROMETRY;OXOALANINE AT CYS-69;ABSENCE OF OXOALANINE IN MSD
11.

"Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency."
Cosma M.P. , Pepe S. , Parenti G. , Settembre C. , Annunziata I. , Wade-Martins R. , Domenico C.D. , Natale P.D. , Mankad A. , Cox B. , Uziel G. , Mancini G.M. , Zammarchi E. , Donati M.A. , Kleijer W.J. , Filocamo M. , Carrozzo R. , Carella M. , more...
Hum. Mutat.23:576-581(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: INVOLVEMENT IN MSD
12.

"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-158 AND ASN-350
tissue: Liver.
13.

"Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis."
Lukatela G. , Krauss N. , Theis K. , Selmer T. , Gieselmann V. , von Figura K. , Saenger W.
Biochemistry37:3654-3664(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: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS);OLIGOMERIZATION
14.

"Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis."
von Buelow R. , Schmidt B. , Dierks T. , von Figura K. , Uson I.
J. Mol. Biol.305:269-277(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: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS);MUTAGENESIS OF CYS-69
15.

"Crystal structure of a covalent intermediate of endogenous human arylsulfatase A."
Chruszcz M. , Laidler P. , Monkiewicz M. , Ortlund E. , Lebioda L. , Lewinski K.
J. Inorg. Biochem.96:386-392(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 (2.75 ANGSTROMS) OF 19-507;SUBUNIT;GLYCOSYLATION AT ASN-158 AND ASN-184;ACTIVE SITE;ENZYME REGULATION;CALCIUM-BINDING;COFACTOR
16.

"A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme."
Roeser D. , Preusser-Kunze A. , Schmidt B. , Gasow K. , Wittmann J.G. , Dierks T. , von Figura K. , Rudolph M.G.
Proc. Natl. Acad. Sci. U.S.A.103:81-86(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 (1.55 ANGSTROMS) OF 69-73 IN COMPLEX WITH SUMF1
17.

"Molecular genetics of metachromatic leukodystrophy."
Gieselmann V. , Zlotogora J. , Harris A. , Wenger D.A. , Morris C.P.
Hum. Mutat.4:233-242(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 MLD VARIANTS
18.

"Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site."
Gieselmann V. , Polten A. , Kreysing J. , von Figura K.
Proc. Natl. Acad. Sci. U.S.A.86:9436-9440(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: VARIANT SER-350;ASSOCIATION WITH ARYLSULFATASE A PSEUDODEFICIENCY
19.

"Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy."
Kondo R. , Wakamatsu N. , Yoshino H. , Fukuhara N. , Miyatake T. , Tsuji S.
Am. J. Hum. Genet.48:971-978(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 MLD ASP-99
20.

"Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy."
Gieselmann V. , Fluharty A.L. , Toennesen T. , von Figura K.
Am. J. Hum. Genet.49:407-413(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 MLD PHE-96
21.

"Molecular basis of different forms of metachromatic leukodystrophy."
Polten A. , Fluharty A.L. , Fluharty C.B. , Kappler J. , von Figura K. , Gieselmann V.
N. Engl. J. Med.324:18-22(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 MLD LEU-426;VARIANTS CYS-193 AND SER-391
22.

"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings."
Kappler J. , von Figura K. , Gieselmann V.
Ann. Neurol.31:256-261(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 MLD GLN-84
23.

"High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy."
Kreysing J. , Bohne W. , Bosenberg C. , Marchesini S. , Turpin J.C. , Baumann N. , von Figura K. , Gieselmann V.
Am. J. Hum. Genet.53:339-346(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: VARIANT MLD SER-309
24.

"Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy."
Hasegawa Y. , Kawame H. , Eto Y.
DNA Cell Biol.12:493-498(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: VARIANT MLD ARG-245
25.

"Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain."
Barth M.L. , Fensom A. , Harris A.
Hum. Genet.91:73-77(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: VARIANT MLD LEU-426
26.

"An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A."
Honke K. , Kobayashi T. , Fujii T. , Gasa S. , Xu M. , Takamaru Y. , Kondo R. , Tsuji S. , Makita A.
Hum. Genet.92:451-456(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: VARIANT MLD SER-122
27.

"Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients."
Barth M.L. , Fensom A. , Harris A.
Hum. Mol. Genet.2:2117-2121(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 MLD VAL-212; VAL-224 AND TYR-295
28.

"An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy."
Harvey J.S. , Nelson P.V. , Carey W.F. , Robertson E.F. , Morris C.P.
Hum. Mutat.2:261-267(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: VARIANT MLD MET-274
29.

"Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing."
Hasegawa Y. , Kawame H. , Ida H. , Ohashi T. , Eto Y.
Hum. Genet.93:415-420(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 MLD ILE-409
30.

"Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area."
Heinisch U. , Zlotogora J. , Kafert S. , Gieselmann V.
Am. J. Hum. Genet.56:51-57(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 MLD ASP-86; LEU-96; HIS-190; MET-274 AND TRP-370;CHARACTERIZATION OF VARIANTS MLD ASP-86; LEU-96; HIS-190; MET-274 AND TRP-370
31.

"A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme."
Kafert S. , Heinisch U. , Zlotogora J. , Gieselmann V.
Hum. Genet.95:201-204(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 MLD LEU-136
32.

"Identification of seven novel mutations associated with metachromatic leukodystrophy."
Barth M.L. , Fensom A. , Harris A.
Hum. Mutat.6:170-176(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 MLD LEU-82; TYR-172; CYS-201; GLN-311; VAL-335 AND TRP-390
33.

"Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy."
Tsuda T. , Hasegawa Y. , Eto Y.
Brain Dev.18:400-403(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 MLD HIS-153 AND VAL-308;CHARACTERIZATION OF VARIANTS MLD HIS-153 AND VAL-308
34.

"Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy."
Hess B. , Kafert S. , Heinisch U. , Wenger D.A. , Zlotogora J. , Gieselmann V.
Hum. Mutat.7:311-317(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: CHARACTERIZATION OF VARIANTS MET-274 AND VAL-335
35.

"A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient."
Regis S. , Filocamo M. , Stroppiano M. , Corsolini F. , Gatti R.
Clin. Genet.52:65-67(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 MLD PRO-428
36.

"Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene."
Draghia R. , Letourneur F. , Drugan C. , Manicom J. , Blanchot C. , Kahn A. , Poenaru L. , Caillaud C.
Hum. Mutat.9:234-242(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 MLD ASN-95; ARG-119; TYR-152; HIS-244; TYR-250; THR-314; ASN-367 AND CYS-384;VARIANT HIS-496
37.

"A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms."
Regis S. , Filocamo M. , Stroppiano M. , Corsolini F. , Caroli F. , Gatti R.
Hum. Genet.102:50-53(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 MLD 406-SER--THR-408 DEL
38.

"Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation."
Gomez-Lira M. , Perusi C. , Mottes M. , Pignatti P.F. , Manfredi M. , Rizzuto N. , Salviati A.
Hum. Genet.102:459-463(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 MLD PRO-135 AND SER-179
39.

Gomez-Lira M. , Perusi C. , Mottes M. , Pignatti P.F. , Manfredi M. , Rizzuto N. , Salviati A.
Hum. Genet.102:602-602(1998)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
40.

"The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy."
Ricketts M.H. , Poretz R.D. , Manowitz P.
Hum. Mutat.12:238-239(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 HIS-496
41.

"Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy."
Coulter-Mackie M.B. , Gagnier L.
Hum. Mutat. Suppl.1:S254-S256(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 MLD GLN-390 AND TYR-397
42.

"Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations."
Kurosawa K. , Ida H. , Eto Y.
J. Inherit. Metab. Dis.21:781-782(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 MLD SER-298;CHARACTERIZATION OF VARIANT MLD SER-298
43.

"Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity."
Berger J. , Gmach M. , Mayr U. , Molzer B. , Bernheimer H.
Hum. Mutat.13:61-68(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 PRO-76; CYS-193; SER-391 AND VAL-464
44.

"Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC."
Marcao A. , Amaral O. , Pinto E. , Pinto R. , Sa Miranda M.C.
Hum. Mutat.13:337-338(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 MLD PHE-300 AND THR-425
45.

"Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients."
Gort L. , Coll M.J. , Chabas A.
Hum. Mutat.14:240-248(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 MLD SER-32; PRO-68; TRP-84; ALA-94; VAL-99; SER-136; VAL-212; TYR-227; HIS-255; HIS-288; ASP-308; ILE-327 AND LEU-377;VARIANTS CYS-193; SER-350 AND SER-391
46.

"Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case."
Halsall D.J. , Halligan E.P. , Elsey T.S. , Cox T.M.
Hum. Mutat.14:447-447(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 MLD SER-179 AND TYR-281
47.

"Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease."
Qu Y. , Shapira E. , Desnick R.J.
Mol. Genet. Metab.67:206-212(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 MLD LEU-148; THR-191; VAL-335; TYR-397 AND LEU-426
48.

"Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy."
Hermann S. , Schestag F. , Polten A. , Kafert S. , Penzien J. , Zlotogora J. , Baumann N. , Gieselmann V.
Am. J. Med. Genet.91:68-73(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 MLD ASP-86; CYS-201; HIS-255 AND ASP-312;CHARACTERIZATION OF VARIANTS MLD ASP-86; CYS-201; HIS-255 AND ASP-312
49.

"Adult-onset MLD: a gene mutation with isolated polyneuropathy."
Felice K.J. , Gomez Lira M. , Natowicz M. , Grunnet M.L. , Tsongalis G.J. , Sima A.A.F. , Kaplan R.F.
Neurology55:1036-1039(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: VARIANT MLD PRO-286;VARIANT SER-391
50.

"Variable onset of metachromatic leukodystrophy in a Vietnamese family."
Arbour L.T. , Silver K. , Hechtman P. , Treacy E.P. , Coulter-Mackie M.B.
Pediatr. Neurol.23:173-176(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: VARIANT MLD GLY-143;CHARACTERIZATION OF VARIANT MLD GLY-143
51.

"Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family."
Comabella M. , Waye J.S. , Raguer N. , Eng B. , Dominguez C. , Navarro C. , Borras C. , Krivit W. , Montalban X.
Ann. Neurol.50:108-112(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: VARIANT MLD ILE-408;VARIANTS CYS-193 AND SER-391
52.

"Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity."
Regis S. , Corsolini F. , Stroppiano M. , Cusano R. , Filocamo M.
Hum. Genet.110:351-355(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: VARIANT MLD LYS-253;VARIANTS SER-350; SER-391 AND LEU-426
53.

"Biochemical characterization of two (C300F, P425T) arylsulfatase A missense mutations."
Marcao A. , Simonis H. , Schestag F. , Sa Miranda M.C. , Gieselmann V.
Am. J. Med. Genet. A116:238-242(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: CHARACTERIZATION OF VARIANTS MLD PHE-300 AND THR-425
54.

"Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T."
Marcao A. , Azevedo J.E. , Gieselmann V. , Sa Miranda M.C.
Biochem. Biophys. Res. Commun.306:293-297(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: CHARACTERIZATION OF VARIANTS MLD PHE-300 AND THR-425
55.

"Identification of nine novel arylsulfatase A (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)."
Eng B. , Nakamura L.N. , O'Reilly N. , Schokman N. , Nowaczyk M.M.J. , Krivit W. , Waye J.S.
Hum. Mutat.22:418-419(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 MLD LEU-155; GLN-181; VAL-212; HIS-306; SER-325; VAL-335; LEU-426 AND SER-429
56.

"Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy."
Olkhovich N.V. , Takamura N. , Pichkur N.A. , Gorovenko N.G. , Aoyagi K. , Yamashita S.
Mol. Genet. Metab.80:360-363(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 MLD SER-136; SER-247; GLU-381 LEU-426 AND GLY-469
57.

"Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients."
Berna L. , Gieselmann V. , Poupetova H. , Hrebicek M. , Elleder M. , Ledvinova J.
Am. J. Med. Genet. A129:277-281(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: VARIANTS MLD ASN-29; ARG-156; SER-179; SER-293; TYR-294; SER-309 AND LEU-426;VARIANTS CYS-193 AND SER-391;CHARACTERIZATION OF VARIANTS MLD ASN-29; ARG-156; SER-293 AND TYR-294
58.

"Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene."
Gallo S. , Randi D. , Bertelli M. , Salviati A. , Pandolfo M.
J. Neurol. Neurosurg. Psych.75:655-657(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: VARIANTS MLD ASP-293 AND GLY-489;VARIANT SER-350
59.

"Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene."
Marcao A.M. , Wiest R. , Schindler K. , Wiesmann U. , Weis J. , Schroth G. , Miranda M.C.S. , Sturzenegger M. , Gieselmann V.
Arch. Neurol.62:309-313(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: VARIANT MLD VAL-219;CHARACTERIZATION OF VARIANT MLD VAL-219
60.

"Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles."
Grossi S. , Regis S. , Rosano C. , Corsolini F. , Uziel G. , Sessa M. , Di Rocco M. , Parenti G. , Deodato F. , Leuzzi V. , Biancheri R. , Filocamo M.
Hum. Mutat.29:E220-E230(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: VARIANTS MLD ASP-18; HIS-30; GLN-84; PRO-137 DEL; ASP-154; SER-179; CYS-201; PRO-212; HIS-217; LYS-253; SER-282; ASN-302; TRP-370; ASN-376; TRP-390 AND PRO-428;CHARACTERIZATION OF VARIANTS MLD ASP-18; HIS-30; PRO-212; HIS-217; SER-282; ASN-302; TRP-370 AND ASN-376
61.

"Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy."
Cesani M. , Capotondo A. , Plati T. , Sergi L.S. , Fumagalli F. , Roncarolo M.G. , Naldini L. , Comi G. , Sessa M. , Biffi A.
Hum. Mutat.30:E936-E945(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 MLD PRO-52; ASP-138; PRO-212; MET-304; LYS-307 AND GLY-406;CHARACTERIZATION OF VARIANTS MLD PRO-52; ASP-138; PRO-212; MET-304; LYS-307 AND GLY-406
62.

"Molecular bases of metachromatic leukodystrophy in Polish patients."
Lugowska A. , Ploski R. , Wlodarski P. , Tylki-Szymanska A.
J. Hum. Genet.55:394-396(2010) [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 MLD SER-179; SER-247; CYS-288; VAL-335; LYS-382; GLN-390; TRP-390; TYR-397 AND LEU-426
63.

"Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case."
Hayashi T. , Nakamura M. , Ichiba M. , Matsuda M. , Kato M. , Shiokawa N. , Shimo H. , Tomiyasu A. , Mori S. , Tomiyasu Y. , Ishizuka T. , Inamori Y. , Okamoto Y. , Umehara F. , Arimura K. , Nakabeppu Y. , Sano A.
Psychiatry Clin. Neurosci.65:105-108(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: VARIANTS MLD ASP-99 AND ILE-409

Product Feedback Wall

* Email:
*Comments: