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This report documents the successful use of plasma lysoSLs profiling in the PSAP deficiency diagnosis, as a reliable and informative tool to obtain a preliminary information in infantile cases with complex traits displaying severe neurological signs and visceral involvement.
an extensive review of all the PSAP-causative variants published in the literature to date, accounting for a total of 10 PSAP allele types (review)
Our findings suggest a novel pharmacological approach to Sap (Montrer APCS Anticorps) C deficiency directed to treat major secondary pathological aspects in this disorder.
PSAP is a secreted biomarker.
Data suggested that the abundance of Psap in sperm sample may be a sensitive endpoint to predict PCB (Montrer PC Anticorps) exposure.
Prosaposin facilitates sortilin (Montrer SORT1 Anticorps)-independent lysosomal trafficking of progranulin (Montrer GRN Anticorps).
findings support a lung metastasis-promoting function of the miR (Montrer MLXIP Anticorps)-23b/27b/24 cluster of miRNAs, which functions in part through the direct inhibition of PSAP in breast cancer
Mesotrypsin (Montrer PRSS3 Anticorps) generated saposins A-D from prosaposin, and mature caspase-14 (Montrer CASP14 Anticorps) contributed to this process by activating mesotrypsinogen (Montrer PRSS3 Anticorps) to mesotrypsin (Montrer PRSS3 Anticorps). Knockdown of these proteases markedly down-regulated saposin A synthesis in skin equivalent models.
Of the 2575 proteins identified, proteins upregulated in gallbladder cancer included several lysosomal proteins such as prosaposin, cathepsin Z (Montrer CTSZ Anticorps) and cathepsin H (Montrer CTSH Anticorps).
Saposin C protects glucocerebrosidase against alpha-synuclein inhibition.
Data show that matrix (ECM (Montrer MMRN1 Anticorps)) stiffness leads to mechano-signal transduction in mesenchymal stem cells (MSC (Montrer MSC Anticorps)), which promotes mammary tumor growth in part through secretion of the signaling protein prosaposin.
Low levels of prosaposin and its receptors in the mouse brain suggest the participation of prosaponin in pathological changes in the brains of dystrophic mdx (Montrer DMD Anticorps) mice.
These data show functional association between GPR37, prosaposin, and GM1 ganglioside in the plasma membrane.
Prosaposin is involved in the regulation of muscle differentiation of regenerated fibres
Saposins A and B deficiencies attenuated GalCer-beta-galactosylceramidase (Montrer GALC Anticorps) and GM1-beta-galactosidase (Montrer GLB1 Anticorps) functions in the degradation of lactosylceramide in the liver.
These data suggest that prosaposin plays an important role in the neuronal maturation processes of the vestibular sensory epithelium and the maintenance of normal vestibular system function.
The saposin C deficient mice backcrossed to point mutated GCase (Montrer GBA Anticorps) mimics the central nervous system phenotype and biochemistry of some type 3 (neuronopathic) variants of Gaucher disease.
identified 68 single-nucleotide polymorphisms and 9 indels in the pig PASP (Montrer CPB1 Anticorps) gene, and three single-nucleotide polymorphisms were nonsynonymous substitutions
Saposin B (Sap (Montrer APCS Anticorps) B) is not a limiting factor of the coupled Sap (Montrer APCS Anticorps) B-arylsulfatase A (Montrer ARSA Anticorps) reaction in mouse kidney cells even if sulfatide has accumulated to unphysiologically high levels.
This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms.
, sphingolipid activator protein-1
, snoRNA MBII-198
, sulfated glycoprotein 1
, prosaposin (sulfated glycoprotein, sphingolipid hydrolase activator)
, prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)
, proactivator polypeptide-like