4 documents found, page 1 of 1
Parkinson’s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging A...
Gago, Miguel Fernandes; Azevedo, Olga; Guimarães, Andreia; Teresa Vide, Ana; Lamas, Nuno J.; Oliveira, Tiago Gil; Gaspar, Paulo; Bicho, EstelaBackground: Sporadic Parkinson's disease (PD) patients have lower α-galactosidase A (α-GAL A) enzymatic activity and Fabry disease (FD) patients potentially carry an increased risk of PD. Objective: Determination of PD prevalence in FD and clinical, biochemical and vascular neuroimaging description of FD pedigrees with concomitant PD. Methods: Clinical screening for PD in 229 FD patients belonging to 31 familie...
Parkinson’s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging A...
Gago, Miguel Fernandes; Azevedo, Olga; Guimarães, Andreia; Teresa Vide, Ana; Lamas, Nuno J.; Oliveira, Tiago Gil; Gaspar, Paulo; Bicho, EstelaBackground: Sporadic Parkinson's disease (PD) patients have lower α-galactosidase A (α-GAL A) enzymatic activity and Fabry disease (FD) patients potentially carry an increased risk of PD. Objective: Determination of PD prevalence in FD and clinical, biochemical and vascular neuroimaging description of FD pedigrees with concomitant PD. Methods: Clinical screening for PD in 229 FD patients belonging to 31 familie...
Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's...
Marote, Ana; Pomeshchik, Yuriy; Collin, Anna; Goldwurm, Stefano; Lamas, Nuno J.; Pinto, Luísa; Salgado, A. J.; Roybon, LaurentThe leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation is the most common genetic cause of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line CSC-41 was generated from a 75-year old patient diagnosed with PD caused by a p.G2019S mutation in LRRK2. Skin fibroblasts were reprogrammed using a non-integrating Sendai virus-based technology to deliver OCT3/4, SOX2, c-MYC and KLF4 transcription...
Generation of an integration-free induced pluripotent stem cell line (CSC-43) f...
Marote, Ana Maria Franco Aveiro; Pomeshchik, Yuriy; Goldwurm, Stefano; Collin, Anna; Lamas, Nuno J.; Pinto, Luísa; Salgado, A. J.; Roybon, LaurentAn induced pluripotent stem cell (iPSC) line was generated from a 36-year-old patient with sporadic Parkinson's disease (PD). Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line (CSC-43) exhibits expression of common pluripotency markers, in vitro differentiation into three germ layers and normal karyotype....