Results 101 to 110 of about 940,251 (149)

Correction: Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells. [PDF]

PLoS One, 2021
Dermentzaki G, Dimitriou E, Xilouri M, Michelakakis H, Stefanis L.   +4 more
europepmc   +1 more source

Engineering synthetic and recombinant human lysosomal β-glucocerebrosidase for enzyme replacement therapy for Gaucher disease

Gaucher Disease (GD) is an autosomal recessive, lysosomal storage disease caused by pathogenic variants in the glucocerebrosidase gene, leading to the loss of β-glucocerebrosidase (GCase) enzymatic activity.
Wilson Lau Junior, Aparecida Maria Fontes, Ester Silveira Ramos, Lílian L. Souza Figueiredo, Vasco Azevedo, Lucas Bleicher, Maristela Delgado Orellana, Velia Siciliano, Giuliano Bonfá, Kuruvilla Joseph Abraham, Victor Wendel da Silva Goncalves, Rigoberto Gadelha Chaves, Lucas Eduardo Botelho de Souza, Vania D’Almeida, Ron Weiss, Flávio Lichtenstein, Stanton Gerson, de Souza, Lucas E. B., Abraham, Kuruvilla J., D’Almeida, Vania, Ramos, Ester S., Orellana, Maristela D., Bleicher, Lucas, da Silva Goncalves, Victor W., Lichtenstein, Flávio, Figueiredo, Lílian L. S., Junior, Wilson L.   +26 more
core   +2 more sources

β-Glucocerebrosidase activity in GBA-linked Parkinson disease: The type of mutation matters. [PDF]

Neurology, 2020
Huh YE, Chiang MSR, Locascio JJ, Liao Z, Liu G, Choudhury K, Kuras YI, Tuncali I, Videnovic A, Hunt AL, Schwarzschild MA, Hung AY, Herrington TM, Hayes MT, Hyman BT, Wills AM, Gomperts SN, Growdon JH, Sardi SP, Scherzer CR.   +19 more
europepmc   +1 more source

A baculoviral system for the production of human β-glucocerebrosidase enables atomic resolution analysis. [PDF]

Acta Crystallogr D Struct Biol, 2020
Rowland RJ, Wu L, Liu F, Davies GJ.
europepmc   +1 more source

Diet, β-glucocerebrosidase deficiency, and Parkinson's disease. [PDF]

J Lipid Res
Shayman JA.
europepmc   +1 more source

Metabolic reprogramming and altered ATP content impair neuroprotective functions of microglia in β-glucocerebrosidase deficiency models. [PDF]

J Neuroinflammation
Brunialti E, Villa A, Szego EM, La Vitola P, Drago D, Pavlovic R, Fontana L, Tuna D, Panzeri A, Meda C, Weissleder C, Rondinone O, Pitasi M, Miozzo M, Deleidi M, Andolfo A, Di Monte DA, Ciana P.   +17 more
europepmc   +1 more source

Lewy Body–like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and α‐Synuclein Mutations [PDF]

Objective We utilized human midbrain-like organoids (hMLOs) generated from human pluripotent stem cells carrying glucocerebrosidase gene (GBA1) and α-synuclein (α-syn; SNCA) perturbations to investigate genotype-to-phenotype relationships in Parkinson ...
Saw, Tzuen Yih, Yaw, Lai‐Ping, Jung, Byung Chul, Lim, Grace Gui Yin, Tan, Eng‐King, Ng, Huck‐Hui, Lee, Seung‐Jae, Sun, Alfred Xuyang, Yu, Weonjin, Khoo, Audrey Tze Ting, Lim, Kah‐Leong, Je, Hyunsoo Shawn, Ong, Wei‐Yi, Yang, Lin, Jo, Junghyun, Xiao, Bin, Lokman, Hidayat, Chang, Ya Yin, Xie, Jessica Jiaxin, Tran, Hoang‐Dai   +19 more
core  

Long Noncoding RNA POU3F3 and α-Synuclein in Plasma L1CAM Exosomes Combined with β-Glucocerebrosidase Activity: Potential Predictors of Parkinson's Disease. [PDF]

Neurotherapeutics, 2020
Zou J, Guo Y, Wei L, Yu F, Yu B, Xu A.
europepmc   +1 more source

Investigating the Impact of the Parkinson's-Associated GBA1 E326K Mutation on β-Glucocerebrosidase Dimerization and Interactome Dynamics Through an In Silico Approach. [PDF]

Int J Mol Sci
Pietrafesa D, Casamassa A, Benassi B, Santoro M, Marano M, Consales C, Rosati J, Arcangeli C.   +7 more
europepmc   +1 more source

β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site. [PDF]

J Am Chem Soc, 2018
Zheng J, Chen L, Skinner OS, Ysselstein D, Remis J, Lansbury P, Skerlj R, Mrosek M, Heunisch U, Krapp S, Charrow J, Schwake M, Kelleher NL, Silverman RB, Krainc D.   +14 more
europepmc   +1 more source