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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 …
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 …
Klotho-Related Protein KLrP: Structure and Functions.
Hayashi Y, Ito M. Hayashi Y, et al. Vitam Horm. 2016;101:1-16. doi: 10.1016/bs.vh.2016.02.011. Epub 2016 Mar 29. Vitam Horm. 2016. PMID: 27125736 Review.
We describe here that KL-related protein (KLrP), which is composed of a single GH motif, is a cytosolic beta-glucocerebrosidase (GCase, EC 3.2.1.145). We detected a neutral conduritol B epoxide (CBE)-insensitive glucosylceramide (GlcCer)-degrading activity in the cy …
We describe here that KL-related protein (KLrP), which is composed of a single GH motif, is a cytosolic beta-glucocerebrosidase …
Mini review - The role of Glucocerebrosidase and Progranulin as possible targets in the treatment of Parkinson's disease.
Rodrigues PS, Kale PP. Rodrigues PS, et al. Rev Neurol (Paris). 2021 Nov;177(9):1082-1089. doi: 10.1016/j.neurol.2021.01.015. Epub 2021 Jun 24. Rev Neurol (Paris). 2021. PMID: 34175090 Review.
As per recent reports, there is an association between glucocerebrosidase (Gcase) enzyme and Parkinson's disease (PD). In addition, certain mutations in the Gcase gene (GBA) and the progranulin (PGRN) gene are found to be linked with the imbalance in the levels of G …
As per recent reports, there is an association between glucocerebrosidase (Gcase) enzyme and Parkinson's disease (PD). In addition, c …
The interplay between Glucocerebrosidase, alpha-synuclein and lipids in human models of Parkinson's disease.
Muñoz SS, Petersen D, Marlet FR, Kücükköse E, Galvagnion C. Muñoz SS, et al. Biophys Chem. 2021 Jun;273:106534. doi: 10.1016/j.bpc.2020.106534. Epub 2020 Dec 25. Biophys Chem. 2021. PMID: 33832803 Free article. Review.
GCase is a lysosomal glycoprotein responsible for the hydrolysis of glucosylceramide into glucose and ceramide. Mutations in GBA cause a decrease in GCase activity, stability and protein levels which in turn lead to the accumulation of GCase lipid substrates as well …
GCase is a lysosomal glycoprotein responsible for the hydrolysis of glucosylceramide into glucose and ceramide. Mutations in GBA cause a …
Lysosomal impairment in Parkinson's disease.
Dehay B, Martinez-Vicente M, Caldwell GA, Caldwell KA, Yue Z, Cookson MR, Klein C, Vila M, Bezard E. Dehay B, et al. Mov Disord. 2013 Jun;28(6):725-32. doi: 10.1002/mds.25462. Epub 2013 Apr 11. Mov Disord. 2013. PMID: 23580333 Free PMC article. Review.
Conversely, mutations in lysosomal-related genes, such as glucocerebrosidase (GBA) and lysosomal type 5 P-type ATPase (ATP13A2), have been linked to PD. ...According to these new findings, primary lysosomal defects could potentially account for Lewy body formation and neur …
Conversely, mutations in lysosomal-related genes, such as glucocerebrosidase (GBA) and lysosomal type 5 P-type ATPase (ATP13A2), have …
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, …
[Gaucher's disease ].
Belmatoug N, Caubel I, Stirnemann J, Billette de Villemeur T. Belmatoug N, et al. J Soc Biol. 2002;196(2):141-9. J Soc Biol. 2002. PMID: 12360743 Review. French.
Macrophages are the likely cellular source of biochemical abnormalities: elevated blood level of ferritin, angiotensin converting enzyme, immunoglobulins and haemostasis abnormalities. Lysosomal perturbations lead to increased blood level of tartrate resistant acid …
Macrophages are the likely cellular source of biochemical abnormalities: elevated blood level of ferritin, angiotensin converting enz …
Cutting Edge of the Pathogenesis of Atopic Dermatitis: Sphingomyelin Deacylase, the Enzyme Involved in Its Ceramide Deficiency, Plays a Pivotal Role.
Imokawa G. Imokawa G. Int J Mol Sci. 2021 Feb 5;22(4):1613. doi: 10.3390/ijms22041613. Int J Mol Sci. 2021. PMID: 33562655 Free PMC article. Review.
These functional abnormalities of the SC are mainly attributable to significantly decreased levels of total ceramides and the altered ceramide profile in the SC. ...The activity of SM deacylase is significantly increased in AD lesional epidermis as well as in the in …
These functional abnormalities of the SC are mainly attributable to significantly decreased levels of total ceramides and the …
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