Associated Papers
Prosaposin in CNS health and disease, metabolic stress and exercise adaptation.
Taha HB et al.
Journal of Molecular Medicine (berlin, Germany), 2026
Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.
Yoldas Celik M et al.
Journal of Child Neurology, 2025
Two Novel Mutations in the PSAP Gene Causing a Metachromatic Leukodystrophy (MLD)-like Phenotype and a Review of the Literature.
Dragoumi P et al.
Neurology India, 2025
A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report.
Li X et al.
The Journal of International Medical Research, 2024
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.
Sheth J et al.
Jimd Reports, 2023
PSAP variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Zhao YW et al.
Brain : a Journal of Neurology, 2021
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
Kolnikova M et al.
Journal of Molecular Neuroscience : Mn, 2019
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
Motta M et al.
Human Molecular Genetics, 2014
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.
Al-Hassnan ZN et al.
Journal of Child Neurology, 2009
Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.
Ruiz-Canada C et al.
Cell, 2009
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.
Remmel N et al.
The Febs Journal, 2007
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
Regis S et al.
European Journal of Human Genetics : Ejhg, 0
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