✦ LIBER ✦

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

✍ Scribed by Kathleen S. Hruska; Mary E. LaMarca; C. Ronald Scott; Ellen Sidransky

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 303 KB
Volume: 29
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.20676

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The identification of eight novel glucoc

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease

✍ E. Orvisky; J.K. Park; A. Parker; J.M. Walker; B.M. Martin; B.K. Stubblefield; E 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB

Mutations in the gene encoding for the lysosomal enzyme glucocerebrosidase (GBA) result in Gaucher disease. In this study, seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2T→A) were identified by dir

Glucocerebrosidase gene mutations in pat

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

✍ Deborah L. Stone; Nahid Tayebi; Eduard Orvisky; Barbara Stubblefield; Victor Mad 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 216 KB 👁 1 views

## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2

Glucocerebrosidase pseudogene variation

Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles

✍ Rosa Martínez-Arias; David Comas; Eva Mateu; Jaume Bertranpetit 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 196 KB

We surveyed the genetic variability of the glucocerebrosidase pseudogene (psGBA) in a worldwide sample of 100 human chromosomes. psGBA is the non-functional duplicate of the gene responsible for Gaucher disease (GBA), the most common lipid storage disorder. The existence of only one psGBA allele des

Analysis of the glucocerebrosidase gene

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

✍ Mirella Filocamo; Raffaella Mazzotti; Marina Stroppiano; Marco Seri; Fiorina Gio 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 176 KB

Gaucher disease (GD), the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the glucocerebrosidase gene (GBA). In this paper we report the molecular characterization of 144 unrelated Italian GD patients with t

Type 1 Gaucher disease: Identification o

Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

✍ Olga Amaral; Eugénia Pinto; Margarida Fortuna; Lucia Lacerda; M.C. Sá Miranda 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB 👁 1 views

Functional analysis of 13 GBA mutant all

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms

✍ Magda Montfort; Amparo Chabás; Lluïsa Vilageliu; Daniel Grinberg 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB

## Communicated by Dvorah Abeliovich Gaucher disease, the most prevalent sphingolipidosis, is caused by the deficient activity of acid b-glucosidase, mainly due to mutations in the GBA gene. Over 200 mutations have been identified worldwide, more than 25 of which were in Spanish patients. In order