Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.
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GPR37 and GPR37L1 are receptors for the neuroprotective and glioprotective factors prosaptide and prosaposinThe protective role of prosaposin and its receptors in the nervous systemAn association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophreniaCathepsin D, a lysosomal protease, regulates ABCA1-mediated lipid effluxProsaposin down-modulation decreases metastatic prostate cancer cell adhesion, migration, and invasionThe birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.Multi-system disorders of glycosphingolipid and ganglioside metabolismSerum prosaposin levels are increased in patients with advanced prostate cancer.Differentially expressed proteins underlying childhood cortical dysplasia with epilepsy identified by iTRAQ proteomic profiling.Deciphering alternative splicing and nonsense-mediated decay modulate expression in primary lymphoid tissues of birds infected with avian pathogenic E. coli (APEC)Regional expression of prosaposin in the wild-type and saposin D-deficient mouse brain detected by an anti-mouse prosaposin-specific antibody.Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice.Lysosomal storage disorders in the newborn.Saposin B mobilizes lipids from cholesterol-poor and bis(monoacylglycero)phosphate-rich membranes at acidic pH. Unglycosylated patient variant saposin B lacks lipid-extraction capacity.Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposinThe lipoprotein receptor-related protein-1 (LRP) adapter protein GULP mediates trafficking of the LRP ligand prosaposin, leading to sphingolipid and free cholesterol accumulation in late endosomes and impaired efflux.Clinical, biochemical and molecular characterization of prosaposin deficiency.Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
P2860
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P2860
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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name
Prosaposin deficiency -- a rar ...... . Report of a further patient.
@en
Prosaposin deficiency -- a rar ...... . Report of a further patient.
@nl
type
label
Prosaposin deficiency -- a rar ...... . Report of a further patient.
@en
Prosaposin deficiency -- a rar ...... . Report of a further patient.
@nl
prefLabel
Prosaposin deficiency -- a rar ...... . Report of a further patient.
@en
Prosaposin deficiency -- a rar ...... . Report of a further patient.
@nl
P2093
P356
P1433
P1476
Prosaposin deficiency -- a rar ...... . Report of a further patient.
@en
P2093
Befekadu A
Hrebícek M
Jerábková M
Rosewich H
P304
P356
10.1055/S-2005-865608
P577
2005-06-01T00:00:00Z