Results 41 to 50 of about 4,639 (191)

The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene

Journal of Integrative Neuroscience
Background: Mutations in the glucocerebrosidase (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes, encoding lysosomal enzyme glucocerebrosidase (GCase) and leucine-rich repeat kinase 2 (LRRK2), respectively, are the most common related to Parkinson’s
Tatiana S. Usenko, Alla Timofeeva, Mariia Beletskaia, Katerina Basharova, Galina Baydakova, Anastasia Bezrukova, Maria Grunina, Anton Emelyanov, Irina Miliukhina, Ekaterina Zakharova, Sofya Pchelina   +10 more
doaj   +1 more source

Glucocerebrosidase activity, cathepsin D and monomeric α-synuclein interactions in a stem cell derived neuronal model of a PD associated GBA1 mutation

Neurobiology of Disease, 2020
The presence of GBA1 gene mutations increases risk for Parkinson's disease (PD), but the pathogenic mechanisms of GBA1 associated PD remain unknown. Given that impaired α-synuclein turnover is a hallmark of PD pathogenesis and cathepsin D is a key enzyme
Shi-yu Yang, Matthew Gegg, David Chau, Anthony Schapira   +3 more
doaj   +1 more source

Table1_Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation.docx

, 2022
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which produces the glucocerebrosidase (GCase) protein. There are more than 500 mutations reported in GBA1, among which L444P (p.Leu444Pro) and
Na Li (6550), Jin Zhang (53297), Duan Ma (40293), Ming Guan (126815), Nan Jiang (21252), Jia-ni Guo (12696950), Ya-jun Li (12696953)   +6 more
core   +1 more source

Deregulation of mTORC1-TFEB axis in human iPSC model of GBA1-associated Parkinson’s disease

Frontiers in Neuroscience, 2023
Mutations in the GBA1 gene are the single most frequent genetic risk factor for Parkinson’s disease (PD). Neurodegenerative changes in GBA1-associated PD have been linked to the defective lysosomal clearance of autophagic substrates and aggregate-prone ...
Fahad Mubariz, Afsoon Saadin, Nicholas Lingenfelter, Chinmoy Sarkar, Aditi Banerjee, Marta M. Lipinski, Marta M. Lipinski, Ola Awad   +7 more
doaj   +1 more source

Mouse and human GBA1 exhibit maximal activity at similar pH.

, 2015
GBA1 in human and mouse brain lysates exhibit similar pH-dependent profile. Maximal activity of mouse GBA1 is seen at pH 4.7, maximal activity of human GBA1 is observed at pH 5.0 (value at pH 4.7 is only ~ 2% lower).
David Riddell (701428), Claude Ambroise (701424), Zdenek Berger (440685), Christine Oborski (701425), Sarah Perkins (5662369), Warren D. Hirst (238891), Stephen Noell (701427), Matthew Calabrese (701426)   +7 more
core   +1 more source

Fluorinated Iminosugar Glycomimetics: Synthesis and Activity as GCase Ligands

European Journal of Organic Chemistry, EarlyView.
DAST‐mediated deoxyfluorination of suitably functionalized piperidines provided regio‐ and stereoselective access to fluorinated piperidine and pyrrolidine glycomimetics, the latter arising from an unusual ring‐contraction process. Fluorination generally enhanced β‐glucocerebrosidase (GCase) inhibitory potency, but lost PC activity toward L444P/L444P ...
Francesca Mangiavacchi, Alessio Morano, Cosimo Margheri, Cristina Faggi, Amelia Morrone, Camilla Matassini, Francesca Clemente, Andrea Goti, Martina Cacciarini, Francesca Cardona   +9 more
wiley   +1 more source

Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease [PDF]

Introduction: Gaucher's disease (GD) is caused by biallelic mutations in the GBA1 gene, leading to reduced glucocerebrosidase (GCase) activity and substrate (glucosylceramide and glucosylsphingosine, GlcSph) accumulation.
Di Vico, Ilaria, Duro, Giovanni, Bentivoglio, Anna Rita, Zibetti, Maurizio, Cavallieri, Francesco, Erro, Roberto, Fabbrini, Giovanni, Bonato, Giulia, Spagnolo, Francesca, Mostile, Giovanni, Zizzo, Carmela, Colucci, Fabiana, Marano, Massimo, Cilia, Roberto, Schirinzi, Tommaso, Di Lazzaro, Vincenzo, Tessitore, Alessandro, Carecchio, Miryam, Di Fonzo, Alessio, De Micco, Rosa, Arabia, Gennarina, Tinazzi, Michele, Cossu, Giovanni, Bovenzi, Roberta, Ramat, Silvia, Sorrentino, Cristiano, Pilotto, Andrea, Tambasco, Nicola, Lupini, Alessandro, Manganotti, Paolo, Ceravolo, Maria Gabriella, Malaguti, Maria Chiara, Caputo, Elena, Tamma, Filippo, Modugno, Nicola, Zappia, Mario, Bacchin, Ruggero, Valzania, Franco, Sucapane, Patrizia, Magliozzi, Alessandro, Marano M., Fabbrini G., Bovenzi R., Carecchio M., Tambasco N., Manganotti P., Malaguti M. C., Caputo E., Zibetti M., Modugno N., Di Fonzo A., Bacchin R., Cilia R., Di Vico I., De Micco R., Lupini A., Duro G., Cossu G., Erro R., Sorrentino C., Di Lazzaro V., Sucapane P., Spagnolo F., Arabia G., Zappia M., Valzania F., Bentivoglio A. R., Ceravolo M. G., Zizzo C., Colucci F., Tinazzi M., Mostile G., Ramat S., Magliozzi A., Pilotto A., Schirinzi T., Tessitore A., Cavallieri F., Tamma F., Bonato G.   +79 more
core   +3 more sources

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies [PDF]

Molecular Genetics and Metabolism, 2020
The discovery that patients with Gaucher Disease (GD), a rare lysosomal storage disorder, were developing symptoms similar to Parkinson's disease (PD) led to investigation of the relationship between the two seemingly unrelated pathologies. GD, an autosomal recessive disorder, is the result of a biallelic mutation in the gene GBA1, which encodes for ...
Parker H, Johnson, Neal J, Weinreb, James C, Cloyd, Paul J, Tuite, Reena V, Kartha   +4 more
openaire   +2 more sources

Serum phosphorylated tau 217 in variant carriers with and without Parkinson disease

Journal of Parkinson’s Disease
It is unclear whether Alzheimer disease pathology drives cognitive decline in Parkinson disease (PD) patients carrying GBA1 variants. We evaluated levels of serum phosphorylated tau 217 (p-tau217) in samples from 29 GBA1 -PD, 32 idiopathic PD, 20 non ...
Elisa Menozzi, Roxana Mezabrovschi, Aleesa Nazeer, Amelia Anderson, Nadine Loefflad, Amanda J Heslegrave, Elena Veleva, Vlada Drotsevitch, Matthew Gegg, Anthony HV Schapira   +9 more
doaj   +1 more source