Results 71 to 80 of about 2,680 (134)

Endoplasmic reticulum stress-related genes drive M1 macrophage polarization in preeclampsia via modulating metabolic reprogramming: a bioinformatic study

Hypertension in Pregnancy
Background Preeclampsia (PE), a serious obstetric complication impacting maternal and fetal health, still lacks reliable biomarkers owing to limited sensitivity, specificity, and disease heterogeneity.Methods Differentially expressed genes (DEGs) were ...
Chunzi Xu, Ruikun Hu, Yun Lu, Ling Gu, Hui Xu, Xu Huang   +5 more
doaj   +1 more source

Genetic and phenotypic characterization of Parkinson’s disease at the clinic-wide level

npj Parkinson's Disease
Observational studies in Parkinson’s disease (PD) deeply characterize relatively small numbers of participants. The Molecular Integration in Neurological Diagnosis Initiative seeks to characterize molecular and clinical features of every PD patient at ...
Thomas F. Tropea, Whitney Hartstone, Noor Amari, Dylan Baum, Jacqueline Rick, Eunran Suh, Hanwen Zhang, Rachel A. Paul, Noah Han, Rebecca Zack, Eliza M. Brody, Isabela Albuja, Justin James, Meredith Spindler, Andres Deik, Whitley W. Aamodt, Nabila Dahodwala, Ali Hamedani, Aaron Lasker, Howard Hurtig, Matthew Stern, Daniel Weintraub, Pavan Vaswani, Allison W. Willis, Andrew Siderowf, Sharon X. Xie, Vivianna Van Deerlin, Alice S. Chen-Plotkin   +27 more
doaj   +1 more source

A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands. [PDF]

Mov Disord, 2020
den Heijer JM, Cullen VC, Quadri M, Schmitz A, Hilt DC, Lansbury P, Berendse HW, van de Berg WDJ, de Bie RMA, Boertien JM, Boon AJW, Contarino MF, van Hilten JJ, Hoff JI, van Mierlo T, Munts AG, van der Plas AA, Ponsen MM, Baas F, Majoor-Krakauer D, Bonifati V, van Laar T, Groeneveld GJ.   +22 more
europepmc   +1 more source

Inhibition of cysteine protease cathepsin Lincreases the level and activity of lysosomal glucocerebrosidase

JCI Insight
The glucocerebrosidase (GCase) encoded by the GBA1 gene hydrolyzes glucosylceramide (GluCer) to ceramide and glucose in lysosomes. Homozygous or compound heterozygous GBA1 mutations cause the lysosomal storage disease Gaucher disease (GD) due to severe ...
Myung Jong Kim, Soojin Kim, Thomas Reinheckel, Dimitri Krainc   +3 more
doaj   +1 more source

A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases

npj Parkinson's Disease
Given 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 more
doaj   +1 more source

Therapeutic delivery of recombinant glucocerebrosidase enzyme-containing extracellular vesicles to human cells from Gaucher disease patients

Orphanet Journal of Rare Diseases
Background 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 more
doaj   +1 more source

Stearoyl-CoA desaturase inhibition normalizes brain lipid saturation, α-synuclein homeostasis, and motor function in mutant Gba1-Parkinson mice

JCI Insight
Loss-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 more
doaj   +1 more source

Polymeric nanoparticle-mediated GBA1 gene therapy is neuroprotective in a preclinical model of Parkinson's disease. [PDF]

Drug Deliv Transl Res
Kwatra M, Kwak G, Li H, Suk JS, Ko HS.
europepmc   +1 more source

Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Elsayed SM, Elsayh KI, Taha SA, Abdelmotogaly HSM, Embaby MM.   +5 more
europepmc   +1 more source