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Items: 1 to 20 of 251

1.

Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.

Poeppel P, Habetha M, Marcão A, Büssow H, Berna L, Gieselmann V.

FEBS J. 2005 Mar;272(5):1179-88.

2.

Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.

Hess B, Kafert S, Heinisch U, Wenger DA, Zlotogora J, Gieselmann V.

Hum Mutat. 1996;7(4):311-7.

PMID:
8723680
3.

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. 2000 Mar 6;91(1):68-73.

PMID:
10751093
4.

Complex arylsulfatase A alleles causing metachromatic leukodystrophy.

Kappler J, Sommerlade HJ, von Figura K, Gieselmann V.

Hum Mutat. 1994;4(2):119-27.

PMID:
7981715
6.

The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.

Schestag F, Yaghootfam A, Habetha M, Poeppel P, Dietz F, Klein RA, Zlotogora J, Gieselmann V.

Biochem J. 2002 Oct 15;367(Pt 2):499-504.

7.

Molecular genetics of metachromatic leukodystrophy.

Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP.

Hum Mutat. 1994;4(4):233-42. Review.

PMID:
7866401
8.

An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy.

Bohne W, von Figura K, Gieselmann V.

Hum Genet. 1991 Jun;87(2):155-8.

PMID:
1676699
9.

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A.

Heine C, Koch B, Storch S, Kohlschütter A, Palmer DN, Braulke T.

J Biol Chem. 2004 May 21;279(21):22347-52.

PMID:
15010453
10.

Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy.

Matzner U, Matthes F, Herbst E, Lüllmann-Rauch R, Callaerts-Vegh Z, D'Hooge R, Weigelt C, Eistrup C, Fogh J, Gieselmann V.

Mol Med. 2007 Sep-Oct;13(9-10):471-9.

12.

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.

Harvey JS, Nelson PV, Carey WF, Robertson EF, Morris CP.

Hum Mutat. 1993;2(4):261-7.

PMID:
8104633
13.

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. 2002 Apr;110(4):351-5.

PMID:
11941485
14.

High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.

Kreysing J, Bohne W, Bösenberg C, Marchesini S, Turpin JC, Baumann N, von Figura K, Gieselmann V.

Am J Hum Genet. 1993 Aug;53(2):339-46.

15.

Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.

Marcão AM, Wiest R, Schindler K, Wiesmann U, Weis J, Schroth G, Miranda MC, Sturzenegger M, Gieselmann V.

Arch Neurol. 2005 Feb;62(2):309-13.

PMID:
15710861
16.

Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.

Tylki-Szymanska A, Berger J, Löschl B, Lugowska A, Molzer B.

Clin Genet. 1996 Nov;50(5):287-92.

PMID:
9007312
17.

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. 1991 May;48(5):971-8.

18.

Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.

Olkhovich NV, Takamura N, Pichkur NA, Gorovenko NG, Aoyagi K, Yamashita S.

Mol Genet Metab. 2003 Nov;80(3):360-3.

PMID:
14680985
19.

Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy.

Yaghootfam A, Baumann N, Schwarz A, Gieselmann V.

Neurochem Res. 2004 May;29(5):933-42.

PMID:
15139291
20.

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. 1993 Nov;92(5):451-6.

PMID:
7902317
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