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A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases
npj Parkinson's DiseaseGiven the established association between numerous GBA1 variants and specific neurological diseases, we extended the exploration by a phenome-wide association study to assess the impact of GBA1 variants on a wider spectrum of health-related traits.Jiaqi Yang, Yuanfeng Huang, Zheng Wang, Shiyu Zhang, Dai Wu, Jiayi Xiong, Heng Wu, Yijing Wang, Qiao Zhou, Yixiao Zhu, Guihu Zhao, Bin Li, Jifeng Guo, Kun Xia, Beisha Tang, Jinchen Li +15 moredoaj +1 more sourceParkinsons disease variant detection and disclosure: PD GENEration, a North American study. [PDF]
Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have been formally adjudicated as causal contributors to Parkinsons disease; however, individuals with Parkinsons disease are often unaware of their genetic status since clinical ...Alcalay, Roy N, Beck, James C, Blauwendraat, Cornelis, Bressman, Susan, Carbonell, Janfreisy, Casaceli, Cynthia, Cook, Lola, Cruz Vicioso, Rossy, Fernandez, Hubert H, Foroud, Tatiana, Ghosh Galvelis, Kamalini, Hall, Anne, Haq, Ihtsham, Hodges, Priscila D, Katus, Linn, Litvan, Irene, Lohmann, Katja, Lyons, Kelly E, Marder, Karen S, Mata, Ignacio F, Mencacci, Niccolò E, Meng, Yan, Moore, Henry, Naito, Anna, Nance, Martha A, Parkinsons Fdn, Quinn, Joseph F, Rao, Shilpa C, Schulze, Jeanine, Schwantes-An, Tae-Hwi, Schwarzschild, Michael A, Shill, Holly A, Simuni, Tanya, Singer, Carlos, Strom, Samuel P, Tropea, Thomas F, Vanegas Arroyave, Nora, Verbrugge, Jennifer, Wills, Anne-Marie +38 morecore +2 more sourcesTherapeutic 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 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 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 sourceStearoyl-CoA desaturase inhibition normalizes brain lipid saturation, α-synuclein homeostasis, and motor function in mutant Gba1-Parkinson mice
JCI InsightLoss-of-function mutations in the GBA1 gene are a prevalent risk factor for Parkinson’s disease (PD). Defining features are Lewy bodies that can be rich in α-synuclein (αS), vesicle membranes, and other lipid membranes, coupled with striatal dopamine ...Silke Nuber, Harrison Hsiang, Esra’a Keewan, Tim E. Moors, Sydney J. Reitz, Anupama Tiwari, Gary P.H. Ho, Elena Su, Wolf Hahn, Marie-Alexandre Adom, Riddhima Pathak, Matthew Blizzard, Sangjune Kim, Han Seok Ko, Xiaoqun Zhang, Per Svenningsson, Dennis J. Selkoe, Saranna Fanning +17 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
