Results 121 to 130 of about 3,185 (196)
IPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis
, 2014 Mutations in the acid β 2-glucocerebrosidase (GBA1) gene, responsible for the lysosomal storage disorder Gaucher s disease (GD), are the strongest genetic risk factor for Parkinson s disease (PD) known to date.C. J. Hindley, J. Hu, Valsecchi, Manuela, L. S. Shihabuddin, S. P. Gygi, D. Berg, L. K. Schwarz, F. Mayer, Deleidi, Michela, F. E. Mcallister, Hedrich, Ulrike, Shihabuddin, Lamya S., Schwarz, Lukas Kristoffer, Hindley, Christopher J., Pruszak, Jan, S. Sonnino, Sonnino, Sandro, M. Deleidi, M. Aureli, Berg, Daniela, McAllister, Fiona E., J. Pruszak, Aureli, Massimo, T. Gasser, B. Schmid, S. Hoffmann, D. C. Schöndorf, Schöndorf, David C., Schmid, Benjamin, Hu, Jing, Gygi, Steven P., S. P. Sardi, M. Valsecchi, Hoffmann, Susanna, U. Hedrich, Sardi, S. Pablo, Gasser, Thomas, Mayer, Florian +37 morecore +1 more sourceComparing GBA1-Parkinson's disease and idiopathic Parkinson's disease: α-Synuclein oligomers and synaptic density as biomarkers in the skin biopsy
The main genetic risk factors for Parkinson's disease (PD) are presently represented by variants in GBA1 gene encoding for the beta-glucocerebrosidase (GCase). Searching for a peripheral biomarker that can be used for selecting and monitoring patients in Isaias, Ioannis Ugo, Straniero, Letizia, Novello, Claudia, Calandrella, Daniela, Basellini, Milo Jarno, Asselta, Rosanna, Ferri, Valentina, Pezzoli, Gianni, Calogero, Alessandra Maria, Contaldi, Elena, Cereda, Emanuele, Cappelletti, Graziella, Garrì, Federica, Mazzetti, Samanta, Del Sorbo, Francesca +14 morecore +1 more sourceAdditional file 4 of GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
Additional file 4: Supplementary Methods.Wang, Chung-Hsing, Huang, Yu‐Nan, Liao, Wen-Ling, Hsieh, Ai-Ru, Lin, Wei-De, Liu, Kai-Wen, Lu, Wen-Li, Huang, Chieh‐Chen, Chien, Yin-Hsiu, Lee, Ni-Chung, Su, Pen-Hua, Tsai, Fuu-Jen +11 moreopenaire +1 more sourceAdditional file 1 of GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
Additional file 1: List of the 17 Osteoporosis-associated GBA1 SNPs genotyped in the study cohort.Wang, Chung-Hsing, Huang, Yu‐Nan, Liao, Wen-Ling, Hsieh, Ai-Ru, Lin, Wei-De, Liu, Kai-Wen, Lu, Wen-Li, Huang, Chieh‐Chen, Chien, Yin-Hsiu, Lee, Ni-Chung, Su, Pen-Hua, Tsai, Fuu-Jen +11 moreopenaire +1 more sourceAdditional file 3 of GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
Additional file 3: Characteristics of the patients with Gaucher disease in this study.Wang, Chung-Hsing, Huang, Yu‐Nan, Liao, Wen-Ling, Hsieh, Ai-Ru, Lin, Wei-De, Liu, Kai-Wen, Lu, Wen-Li, Huang, Chieh‐Chen, Chien, Yin-Hsiu, Lee, Ni-Chung, Su, Pen-Hua, Tsai, Fuu-Jen +11 moreopenaire +1 more sourceTherapeutic delivery of recombinant glucocerebrosidase enzyme-containing extracellular vesicles to human cells from Gaucher disease patients
Orphanet Journal of Rare DiseasesBackground Gaucher disease (GD) is one of the most common types of lysosomal storage diseases (LSDs) caused by pathogenic variants of lysosomal β-glucocerebrosidase gene (GBA1), resulting in the impairment of Glucocerebrosidase (GCase) enzyme function ...Keatdamrong Janpipatkul, Nareerat Sutjarit, Amornrat Tangprasittipap, Tai Chaiamarit, Pawarit Innachai, Kanoknetr Suksen, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Usanarat Anurathapan, Natee Jearawiriyapaisarn, Alisa Tubsuwan, Supareak Bowornpinyo, Nithi Asavapanumas, Arthit Chairoungdua, Kanit Bhukhai, Suradej Hongeng +15 moredoaj +1 more sourceAdditional file 6 of GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
Additional file 6: The primer information for quantitative PCR.Wang, Chung-Hsing, Huang, Yu‐Nan, Liao, Wen-Ling, Hsieh, Ai-Ru, Lin, Wei-De, Liu, Kai-Wen, Lu, Wen-Li, Huang, Chieh‐Chen, Chien, Yin-Hsiu, Lee, Ni-Chung, Su, Pen-Hua, Tsai, Fuu-Jen +11 moreopenaire +1 more source
