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
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
Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.
Fierabracci A et al.
Journal of Endocrinological Investigation, 2021
Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations.
Wan L et al.
Frontiers in Pediatrics, 2021
Prevalence and causes of infantile nystagmus in a large population-based Danish cohort.
Hvid K et al.
Acta Ophthalmologica, 2020
p53-responsive TLR8 SNP enhances human innate immune response to respiratory syncytial virus.
Menendez D et al.
The Journal of Clinical Investigation, 2019
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy.
Yuan Y et al.
Genetic Testing and Molecular Biomarkers, 2019
Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.
Ouled Amar Bencheikh B et al.
Neurobiology of Aging, 2018
A rare form of Gaucher disease resulting from saposin C deficiency.
Kang L et al.
Blood Cells, Molecules & Diseases, 2018
Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.
Chang X et al.
Frontiers in Genetics, 2018
Pharmacogenetic testing revisited: 5' nuclease real-time polymerase chain reaction test panels for genotyping CYP2D6 and CYP2C19.
Larsen JB et al.
Pharmacogenomics and Personalized Medicine, 2017
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.
Tatti M et al.
Human Molecular Genetics, 2015
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
Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin C.
Motta M et al.
Protein Expression and Purification, 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
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.
Kenna MA et al.
Archives of Otolaryngology--head & Neck Surgery, 2010
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
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
Pérez-Dueñas B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 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
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
Thusberg J et al.
Human Mutation, 2006
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
Thönnissen E et al.
Human Genetics, 2002