Associated Papers
Prosaposin in CNS health and disease, metabolic stress and exercise adaptation.
Taha HB et al.
Journal of Molecular Medicine (berlin, Germany), 2026
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
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
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
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
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
Molecular genetics of metachromatic leukodystrophy.
Gieselmann V et al.
Human Mutation, 1994
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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