Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1993 1
1994 1
1995 1
1997 1
1998 1
1999 1
2000 1
2004 1
2006 1
2007 3
2008 4
2009 1
2010 1
2011 3
2012 2
2013 2
2014 2
2015 6
2016 9
2017 6
2018 3
2019 6
2020 5
2021 4
2022 6
2023 6
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

71 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Decreased beta-glucocerebrosidase level"
Page 1
Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial.
Mullin S, Smith L, Lee K, D'Souza G, Woodgate P, Elflein J, Hällqvist J, Toffoli M, Streeter A, Hosking J, Heywood WE, Khengar R, Campbell P, Hehir J, Cable S, Mills K, Zetterberg H, Limousin P, Libri V, Foltynie T, Schapira AHV. Mullin S, et al. JAMA Neurol. 2020 Apr 1;77(4):427-434. doi: 10.1001/jamaneurol.2019.4611. JAMA Neurol. 2020. PMID: 31930374 Free PMC article. Clinical Trial.
In vitro and in vivo studies have reported that ambroxol increases beta-glucocerebrosidase (GCase) enzyme activity and reduces alpha-synuclein levels. ...The CSF GCase activity decreased by 19% (0.059 nmol/mL per hour; 95% CI, -0.115 to -0.002; P = .04 …
In vitro and in vivo studies have reported that ambroxol increases beta-glucocerebrosidase (GCase) enzyme activity and reduces …
Glucocerebrosidase and its relevance to Parkinson disease.
Do J, McKinney C, Sharma P, Sidransky E. Do J, et al. Mol Neurodegener. 2019 Aug 29;14(1):36. doi: 10.1186/s13024-019-0336-2. Mol Neurodegener. 2019. PMID: 31464647 Free PMC article. Review.
Both patients with Gaucher disease and heterozygous carriers are at increased risk of developing Parkinson disease and Dementia with Lewy Bodies, although our understanding of the mechanism for this association remains incomplete. There appears to be an inverse relationship betwe …
Both patients with Gaucher disease and heterozygous carriers are at increased risk of developing Parkinson disease and Dementia with Lewy Bo …
Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial.
Silveira CRA, MacKinley J, Coleman K, Li Z, Finger E, Bartha R, Morrow SA, Wells J, Borrie M, Tirona RG, Rupar CA, Zou G, Hegele RA, Mahuran D, MacDonald P, Jenkins ME, Jog M, Pasternak SH. Silveira CRA, et al. BMC Neurol. 2019 Feb 9;19(1):20. doi: 10.1186/s12883-019-1252-3. BMC Neurol. 2019. PMID: 30738426 Free PMC article. Clinical Trial.
One of the leading genetic risk factors for Parkinson's disease is being a carrier in the gene for beta-Glucocerebrosidase (GCase; gene name GBA1). Studies in cell culture and animal models have shown that raising the levels of GCase can decrease le …
One of the leading genetic risk factors for Parkinson's disease is being a carrier in the gene for beta-Glucocerebrosidase (GC …
Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.
Blanz J, Saftig P. Blanz J, et al. J Neurochem. 2016 Oct;139 Suppl 1:198-215. doi: 10.1111/jnc.13517. Epub 2016 Feb 10. J Neurochem. 2016. PMID: 26860955 Free article. Review.
Glucosylceramide is suggested to stabilize toxic oligomeric forms of alpha-synuclein that negatively influence the activity of beta-glucocerebrosidase and to partially block export of newly synthesized beta-glucocerebrosidase from the endoplasmic retic …
Glucosylceramide is suggested to stabilize toxic oligomeric forms of alpha-synuclein that negatively influence the activity of beta- …
The relationship between glucocerebrosidase mutations and Parkinson disease.
Migdalska-Richards A, Schapira AH. Migdalska-Richards A, et al. J Neurochem. 2016 Oct;139 Suppl 1(Suppl Suppl 1):77-90. doi: 10.1111/jnc.13385. Epub 2016 Feb 10. J Neurochem. 2016. PMID: 26860875 Free PMC article. Review.
Here, we review the GBA1 gene, its role in GD, and its link with PD. The impact of glucocerebrosidase 1 (GBA1) mutations on functioning of endoplasmic reticulum (ER), lysosomes, and mitochondria. ...Impaired lysosomal functioning also causes a decrease in the cleara …
Here, we review the GBA1 gene, its role in GD, and its link with PD. The impact of glucocerebrosidase 1 (GBA1) mutations on functioni …
Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model.
Yang SY, Taanman JW, Gegg M, Schapira AHV. Yang SY, et al. Hum Mol Genet. 2022 Jul 21;31(14):2396-2405. doi: 10.1093/hmg/ddac038. Hum Mol Genet. 2022. PMID: 35179198 Free PMC article.
The stem cells were used to generate a cholinergic neuronal cell model. The effects of the GBA1 variant on glucocerebrosidase (GCase) protein and activity, and cathepsin D, tau and alpha-synuclein protein levels in cholinergic neurons were examined. ...Ambroxol sign …
The stem cells were used to generate a cholinergic neuronal cell model. The effects of the GBA1 variant on glucocerebrosidase (GCase) …
Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation.
Galvagnion C, Marlet FR, Cerri S, Schapira AHV, Blandini F, Di Monte DA. Galvagnion C, et al. Brain. 2022 Apr 29;145(3):1038-1051. doi: 10.1093/brain/awab371. Brain. 2022. PMID: 35362022 Free PMC article.
It was characterized by an overall increase in sphingolipid levels. It also featured a significant increase in the proportion of ceramide, sphingomyelin and hexosylceramide molecules with shorter chain length and a decrease in the percentage of longer-chain sphingol …
It was characterized by an overall increase in sphingolipid levels. It also featured a significant increase in the proportion of cera …
Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant beta-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease.
Kopytova AE, Rychkov GN, Cheblokov AA, Grigor'eva EV, Nikolaev MA, Yarkova ES, Sorogina DA, Ibatullin FM, Baydakova GV, Izyumchenko AD, Bogdanova DA, Boitsov VM, Rybakov AV, Miliukhina IV, Bezrukikh VA, Salogub GN, Zakharova EY, Pchelina SN, Emelyanov AK. Kopytova AE, et al. Int J Mol Sci. 2023 May 22;24(10):9105. doi: 10.3390/ijms24109105. Int J Mol Sci. 2023. PMID: 37240451 Free PMC article.
Mutations in the GBA1 gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), cause Gaucher disease (GD) and are the most common genetic risk factor for Parkinson's disease (PD). ...The results showed that NCGC607 treatment increased GCase activity (by 1.3-fold) an …
Mutations in the GBA1 gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), cause Gaucher disease (GD) and are the most com …
Who to Enroll in Parkinson Disease Prevention Trials? The Case for Genetically At-Risk Cohorts.
Niotis K, West AB, Saunders-Pullman R. Niotis K, et al. Neurology. 2022 Aug 16;99(7 Suppl 1):10-18. doi: 10.1212/WNL.0000000000200812. Neurology. 2022. PMID: 35970585 Review.
Genetically stratified groups offer many advantages to primary and secondary prevention trials. In addition to their ease of identification, they decrease disease heterogeneity on several levels. Particularly, they comprise a phenotypically and pathologically enrich …
Genetically stratified groups offer many advantages to primary and secondary prevention trials. In addition to their ease of identification, …
Saposin C, Key Regulator in the Alpha-Synuclein Degradation Mediated by Lysosome.
Ruz C, Barrero FJ, Pelegrina J, Bandrés-Ciga S, Vives F, Duran R. Ruz C, et al. Int J Mol Sci. 2022 Oct 9;23(19):12004. doi: 10.3390/ijms231912004. Int J Mol Sci. 2022. PMID: 36233303 Free PMC article.
The most significant evidence lies in the GBA gene, which encodes for the lysosomal enzyme beta-glucocerebrosidase (beta-GCase), considered the main genetic risk factor for sporadic PD. ...We also measured the GBA, beta-GAL, beta-HEX, CTSD, PSAP …
The most significant evidence lies in the GBA gene, which encodes for the lysosomal enzyme beta-glucocerebrosidase (beta …
71 results