Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
Montfort, Magda; Chabás, Amparo; Vilageliu, Lluïsa; Grinberg, Daniel.
Blood Cells Mol Dis
; 36(1): 46-52, 2006 Jan-Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16326120
Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.
High-risk screening for Gaucher disease in patients with neurological symptoms.
Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant ß-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.
[Pathogenic mechanism and therapies for Gaucher's disease].
A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.
The clinical management of Type 2 Gaucher disease.
The relationship between glucocerebrosidase mutations and Parkinson disease.
Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.