|
Gaucher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
No immunoreactivity against sapC was detected in healthy donors and in other plasma cell dyscrasias, demonstrating that anti-sapC reactivity is highly restricted to GD.
|
30450574 |
2019 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The patient's phenotype depends then on the nature of the second allele - atypical Gaucher disease in case of saposin A, MLD in case of saposin B, and Krabbe disease in case of saposin C impairing mutations.
|
30632081 |
2019 |
|
Gaucher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
These variant Gaucher disease mouse models presented a mutation specific phenotype and underscored the in vivo role of Saposin C in the modulation of Gaucher disease.
|
30944381 |
2019 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our finding expands the mutation spectrum of Gaucher disease with saposin C deficiency.
|
28457694 |
2018 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To better understand regional brain glycosphingolipid (GSL) accumulation in Gaucher disease (GD) and its relationship to neuropathology, a feasibility study using mass spectrometry and immunohistochemistry was conducted using brains derived from a GD mouse model (4L/PS/NA) homozygous for a mutant GCase (V394L [4L]) and expressing a prosaposin hypomorphic (PS-NA) transgene.
|
28714776 |
2017 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
|
24925315 |
2014 |
|
Gaucher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The role of saposin C as an activator required for normal glucocerebrosidase function, and the consequences of saposin C deficiency are described, and are being explored as potential modifying factors in patients with Gaucher disease.
|
22652185 |
2012 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autophagy in Gaucher disease due to saposin C deficiency.
|
20980829 |
2011 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It was found that: (i) in the four Sap C-deficient cells PSAP was normally processed and sorted, the lack of Sap C being mainly due to the Sap C instability in late endosomal/lysosomal environment; (ii) the decrease/absence of Sap C affected the GCase intracellular localization; (iii) the lowest level of Sap C and enhanced autophagy were observed in the cells, which carried a Sap C mutation involving a cysteine residue; (iv) the four Sap C-deficient fibroblasts stored GC, ceramide and cholesterol, the last two lipids being clearly localized in lysosomes; (v) a correlation was observed between the type of Sap C mutation and the Gaucher phenotype: apparently, mutations involving cysteine residues lead to a neurological variant of GD.
|
20484222 |
2010 |
|
Gaucher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The few patients with saposin C deficiency develop a Gaucher disease-like central nervous system (CNS) phenotype attributed to diminished glucosylceramide (GC) cleavage activity by acid beta-glucosidase (GCase).
|
20015957 |
2010 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The prosaposin PSAP gene codes for a single protein which undergoes post-translational cleavage to yield four proteins named saposins A, B, C and D. Saposin (SAP-) C is required for glucosylceramide degradation, and its deficiency results in a variant form of Gaucher disease.
|
17919309 |
2007 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
|
15856305 |
2005 |
|
Gaucher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with Gaucher disease were shown to have an increased 16:0-glucosylceramide/16:0-lactosylceramide ratio and elevated concentrations of LAMP-1 and saposin C in plasma.
|
11825063 |
2002 |
|
Gaucher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
|
9225972 |
1997 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also review the glucocerebrosidase natural activator, designated saposin C and mutations in its gene, associated with Gaucher disease.
|
8118460 |
1994 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.
|
2060627 |
1991 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The differences in glucocerebrosidase activity (in the absence of taurocholate) in extracts from different cell types from Gaucher disease patients are attributable to differences in the proportion of glucocerebrosidase present as a monomer with low activity (form I) and as a highly active aggregate (form II) that may also contain sphingolipid activator protein 2 (SAP-2).
|
2225530 |
1990 |