Results 91 to 100 of about 9,202 (225)
Lentiviral vectors for gene therapy of Gaucher disease
, 2015 Gaucher disease (GD), a recessive disorder characterised by hepatosplenomegaly, pancytopenia and skeletal complications, is caused by deficiency of the enzyme glucocerebrosidase (GC).
Aitchison, KL
core
LIMP-2 Is a Receptor for Lysosomal Mannose-6-Phosphate-Independent Targeting of β-Glucocerebrosidase
, 2007 Summaryβ-glucocerebrosidase, the enzyme defective in Gaucher disease, is targeted to the lysosome independently of the mannose-6-phosphate receptor. Affinity-chromatography experiments revealed that the lysosomal integral membrane protein LIMP-2 is a ...
Edmunds, Tim +10 more
core +1 more source
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase
Blood Cells, Molecules, and Diseases, 2013 Gaucher disease (GD) is characterized by accumulation of glucosylceramide in lysosomes due to mutations in the GBA1 gene encoding the lysosomal hydrolase β-glucocerebrosidase (GCase). The disease has a broad spectrum of phenotypes, which were divided into three different Types; Type 1 GD is not associated with primary neurological disease while Types 2
Bendikov-Bar, Inna +3 more
openaire +3 more sources
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Acid sphingomyelinase deficiency (ASMD), historically known as Niemann‐Pick disease, is a rare and potentially fatal lysosomal storage disease caused by pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM).
Maria Cristina Robin +10 more
wiley +1 more source
Glucocerebrosidase expression and analysis
, 2008 Gaucher disease, an autosomal recessive disorder, is characterized by a heterogeneous set of signs and symptoms caused by a deficiency in the lysosomal enzyme glucocerebrosidase.
Campbell, Tessa Nicole.
core
Anàlisi molecular de la mucopolisacaridosi I, la mucopolisacaridosi II i la leucodistròfia metacromàtica en els pacients espanyols [PDF]
, 2000 [cat] La mucopolisacaridosi l, la mucopolisacaridosi II i la leucodistròfia metacromàtica sòn tres malalties Iisosòmiques hereditàries. Totes tres són degudes al defecte funcional d'un enzim Iisosòmic que és incapaç de degradar les macromolècules ...
Gort i Mas, Laura
core
Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways [PDF]
, 2021 Biallelic (homozygous or compound heterozygous) glucocerebrosidase gene (GBA) mutations cause Gaucher disease, whereas heterozygous mutations are numerically the most important genetic risk factor for Parkinson disease (PD) and are associated with the ...
Schapira, AHV, Vieira, SRL
core
Beyond Starch: Towards a Scalable Potato Platform for Molecular Farming
Plant Biotechnology Journal, Volume 24, Issue 7, Page 4619-4639, July 2026.Re‐engineering potato as a biosafe and host‐optimised platform for plant molecular farming by integrating intrinsic biological traits with targeted engineering strategies. ABSTRACT Thirty‐five years after the first recombinant protein was produced in potato and 30 years after clinical trials of edible vaccines from its tubers, the crop is being ...
Izabela Anna Chincinska +2 more
wiley +1 more source
Mutant glucocerebrosidase stabilization with 1-deoxynojirimycin
, 2019 β-Glucocerebrosidase is a lysosomal enzyme responsible for the degradation of glucosylceramide, a glycosphingolipid that accumulates in the lysosomes. Mutations in the β-glucocerebrosidase gene result in reduced activity or misfolding and degradation of ...
Seraste, Erkka
core
Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation
, 1988 Labelling of cultured human skin fibroblasts from either control subjects or patients with mucolipidosis II (I-cell disease) with [32P]phosphate resulted in tight association of phosphate with immunoprecipitated glucocerebrosidase, a membrane-associated ...
Strijland, A. +9 more
core +1 more source