Gaucher disease: multiple lessons from a single gene disorder.

Gaucher disease: multiple lessons from a single gene disorder. Research Abstract Details 

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Gaucher disease: multiple lessons from a single gene disorder. Abstract Text:

Gaucher disease is the most common lysosomal storage disease. It is caused by a deficiency in the lysosomal enzyme glucocerebrosidase, a beta-glucosidase, which results in the accumulation of the lipid glucocerebroside in macrophages throughout the body. Gaucher disease is most common in the Ashkenazi Jewish population, and three mutations of the gene encoding glucocerebrosidase (GBA) have been shown to be prevalent in this population (c.1226 A > C [N370S], 84GG and IVS2[+1]). In non-Jewish patients, the most common mutation is c.1448 G > C (L444P). Until 15 years ago, treatment has been restricted to symptomatic interventions, such as splenectomy or hip replacement. However, there are now specific treatment options - enzyme replacement therapy and substrate reduction therapy. Future developments may include the use of chaperone therapy.Conclusion: The lessons that we have learned from Gaucher disease may well be applicable to the development of therapies for some of the other less common lysosomal storage diseases.

Gaucher disease: multiple lessons from a single gene disorder. Publishing Authors By Initials

For similar surgical procedures, operative: splenectomy research abstracts see: surgical procedures, operative: splenectomy research

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Gaucher disease: multiple lessons from a single gene disorder. Journal Published:

PUBLICATION TYPE: Review

Journal: Acta paediatrica (Oslo, Norway : 1992). Supplement

VOLUME: 95

Page Numbers: 103-9

Journal Abbreviation: Acta Paediatr Suppl

ISSN: 0803-5326

DAY: 12

MONTH: Apr

YEAR: 2006

Gaucher disease: multiple lessons from a single gene disorder. Information

Number of References: 52

LANGUAGE: eng

NlmUniqueID: 9315043

Gaucher disease: multiple lessons from a single gene disorder. Keywords Mesh Terms:

KEYWORDS: Splenectomy

MESH TERMS: pathology

Chemical & Substance for Abstract: Gaucher disease: multiple lessons from a single gene disorder. Information

Substance Name: 1-Deoxynojirimycin

Registry Number: 19130-96-2

Grant and Affiliation Information for Gaucher disease: multiple lessons from a single gene disorder.

AFFILIATION: The Scripps Research Institute, La Jolla, CA 92037, USA. beutler@scripps.edu

Country: Norway

AGENCY: United States NIDDK

GRANT: DK061370-03

ACRONYM: DK

MEDLINETA: Acta Paediatr Suppl

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