Results 31 to 40 of about 4,309 (206)

Protein kinase Cα (PKCα) Regulates Bone Architecture and Osteoblast Activity* [PDF]

, 2014
Bones' strength is achieved and maintained through adaptation to load bearing. The role of the protein kinase PKCα in this process has not been previously reported.
Galea, Gabriel L, Hulin-Curtis, Sarah L, Lanyon, Lance E, Meakin, Lee B, Poole, Alastair W, Price, Joanna S, Williams, Christopher M   +6 more
core   +6 more sources

Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.

PLoS ONE, 2021
Multiple mutations have been described in the human GBA1 gene, which encodes the lysosomal enzyme beta-glucocerebrosidase (GCase) that degrades glucosylceramide and is pivotal in glycosphingolipid substrate metabolism.
Nicole K Polinski, Terina N Martinez, Alexander Gorodinsky, Ralph Gareus, Michael Sasner, Mark Herberth, Robert Switzer, Syed O Ahmad, Mali Cosden, Monika Kandebo, Robert E Drolet, Peter D Buckett, Weisong Shan, Yi Chen, Lee J Pellegrino, Gregory D Ellsworth, Leo B Dungan, Warren D Hirst, Sean W Clark, Kuldip D Dave   +19 more
doaj   +1 more source

Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson’s disease

npj Parkinson's Disease, 2023
GBA1 variants are important risk factors for Parkinson’s disease (PD). Most studies assessing GBA1-related PD risk have been performed in European-derived populations.
Yangjie Zhou, Yige Wang, Juan Wan, Yuwen Zhao, Hongxu Pan, Qian Zeng, Xun Zhou, Runcheng He, Xiaoxia Zhou, Yaqin Xiang, Zhou Zhou, Bin Chen, Qiying Sun, Qian Xu, Jieqiong Tan, Lu Shen, Hong Jiang, Xinxiang Yan, Jinchen Li, Jifeng Guo, Beisha Tang, Heng Wu, Zhenhua Liu   +22 more
doaj   +1 more source

and The Immune System: A Potential Role in Parkinson’s Disease?

Journal of Parkinson’s Disease, 2022
It is clear that the immune system and inflammation have a role in Parkinson’s disease (PD), including sporadic PD and some genetic forms such as LRRK2 -associated PD.
Zaid A.M. Al-Azzawi, Saman Arfaie, Ziv Gan-Or   +2 more
doaj   +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
Abstract Background This study aimed to identify GBA1 variants in Egyptian Gaucher disease (GD) patients residing in a region with high consanguinity and to correlate these genotypes with their clinical phenotypes. Methodology This descriptive study included 68 Egyptian ...
Youssef MAM, Elsayed SM, Elsayh KI, Taha SA, Abdelmotogaly HSM, Embaby MM.   +5 more
europepmc   +3 more sources

GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters

BMC Genomics, 2023
Background GBA1 variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood.
Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh   +7 more
doaj   +1 more source

No evidence for substrate accumulation in Parkinson brains with GBA mutations [PDF]

, 2015
To establish whether Parkinson's disease (PD) brains previously described to have decreased glucocerebrosidase activity exhibit accumulation of the lysosomal enzyme's substrate, glucosylceramide, or other changes in lipid ...
Gegg, ME, Sardi, SP, Schapira, AH, Shihabuddin, LS, Sweet, L, Wang, BH   +5 more
core   +1 more source

Effects of ambroxol on the autophagy-lysosome pathway and mitochondria in primary cortical neurons [PDF]

, 2018
Glucocerebrosidase (GBA1) mutations are the major genetic risk factor for Parkinson's Disease (PD). The pathogenic mechanism is still unclear, but alterations in lysosomal-autophagy processes are implicated due to reduction of mutated glucocerebrosidase (
Gegg, ME, Magalhaes, J, Migdalska-Richards, A, Schapira, AH   +3 more
core   +1 more source

Autophagic dysfunction and gut microbiota dysbiosis cause chronic immune activation in a Drosophila model of Gaucher disease.

PLoS Genetics, 2023
Mutations in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD) and are the greatest known genetic risk factors for Parkinson's disease (PD).
Magda L Atilano, Alexander Hull, Catalina-Andreea Romila, Mirjam L Adams, Jacob Wildfire, Enric Ureña, Miranda Dyson, Jorge Ivan-Castillo-Quan, Linda Partridge, Kerri J Kinghorn   +9 more
doaj   +1 more source

The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series. [PDF]

, 2018
We report the cognitive features and progression of Parkinson's disease (PD) in five patients with concurrent Gaucher disease. The patients presented at an earlier age than patients with sporadic PD, as previously noted by others; but in contrast to many
Barker, Roger A, Collins, Lucy M, Cox, Timothy M, Deegan, Patrick, Morris, Elizabeth, Williams-Gray, Caroline H   +5 more
core   +1 more source