Associated Papers
Prosaposin in CNS health and disease, metabolic stress and exercise adaptation.
Taha HB et al.
Journal of Molecular Medicine (berlin, Germany), 2026
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
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
Characterization of human protein C gene promoter: insights from natural human mutants.
Tsay W et al.
Dna and Cell Biology, 1996