Associated Papers
Prosaposin in CNS health and disease, metabolic stress and exercise adaptation.
Taha HB et al.
Journal of Molecular Medicine (berlin, Germany), 2026
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E et al.
International Journal of Molecular Sciences, 2024
A genetic cause for intractable seizures: Atypical Gaucher disease with a novel pathological variant.
Üçem S et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene.
Mohamed FE et al.
Journal of Molecular Neuroscience : Mn, 2022
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
A rare form of Gaucher disease resulting from saposin C deficiency.
Kang L et al.
Blood Cells, Molecules & Diseases, 2018
Clinical, biochemical and molecular characterization of prosaposin deficiency.
Motta M et al.
Clinical Genetics, 2016
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.
Atçeken N et al.
Turkish Journal of Medical Sciences, 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
Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts.
Tatti M et al.
Human Molecular Genetics, 2012
The role of saposin C in Gaucher disease.
Tamargo RJ et al.
Molecular Genetics and Metabolism, 2012
Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.
Tylki-Szymańska A et al.
Molecular Genetics and Metabolism, 2011
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.
Vaccaro AM et al.
Human Molecular Genetics, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.
Gruenauer-Kloevekorn C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2008
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
Deconinck N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2008
Non-neuronopathic Gaucher disease due to saposin C deficiency.
Tylki-Szymańska A et al.
Clinical Genetics, 2007
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.
Elleder M et al.
Neuropediatrics, 2005