𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by Peter Poeppel; Matthias Habetha; Ana Marcão; Heinrich Büssow; Linda Berna; Volkmar Gieselmann


Book ID
111309878
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
418 KB
Volume
272
Category
Article
ISSN
1432-1327

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


The R496H mutation of arylsulfatase A do
✍ Michael H. Ricketts; Ronald D. Poretz; Paul Manowitz 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB

## Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia et al., 1997). We have investigated the R496H

Characterization of four arylsulfatase A
✍ Hermann, Stefanie; Schestag, Frank; Polten, Andreas; Kafert, Sabine; Penzien, Jo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 1 views

Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of arylsulfatase A. Here we describe a hitherto unknown arylsulfatase A allele carrying a E312D missense mutation and characterize the effects of this and three previously described missense mutations, G86D, Y201C,

Characterization of two arylsulfatase A
✍ Barbara Hess; Sabine Kafert; Uwe Heinisch; David A. Wenger; Joel Zlotogora; Volk 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 607 KB

## Communicated by Leenu Peltonen Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. We describe a novel missense mutation in exon 6 causing the substitution of Asp335 by Val. In transient transfections no enzyme activity could be expressed fr

Occurrence, distribution, and phenotype
✍ Berger, Johannes; Löschl, Beate; Bernheimer, Hanno; Lugowska, Agnieszka; Tylki-S 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

Occurrence, distribution, and phenotype of arylsulfatase A (ASA) mutations were investigated in 27 patients with metachromatic leukodystrophy (MLD) from Central Europe, mainly from Austria (n = 15) and Poland (n = 9). Genomic DNA from leukocytes, fibroblasts, or paraffin-embedded, formalin-fixed bra