Výsledky vyhledávání - "metabolism [Glucosylceramidase]"

Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson’s disease

Autor: Manoj Kumar, Manasa P Srikanth, Michela Deleidi, Penelope J Hallett, Ole Isacson, Ricardo A Feldman

Publikováno v: Human molecular genetics 32(11), 1888-1900 (2023). doi:10.1093/hmg/ddad025

Bi-allelic mutations in GBA1, the gene that encodes β-glucocerebrosidase (GCase), cause Gaucher disease (GD), whereas mono-allelic mutations do not cause overt pathology. Yet mono- or bi-allelic GBA1 mutations are the highest known risk factor for P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e623d80d2d569f3311782fe53a2d787
https://doi.org/10.1093/hmg/ddad025

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Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism

Autor: Pascale Baden, Maria Jose Perez, Hariam Raji, Federico Bertoli, Stefanie Kalb, María Illescas, Fokion Spanos, Claudio Giuliano, Alessandra Maria Calogero, Marvin Oldrati, Hannah Hebestreit, Graziella Cappelletti, Kathrin Brockmann, Thomas Gasser, Anthony H. V. Schapira, Cristina Ugalde, Michela Deleidi

Publikováno v: Nature Communications 14(1), 1930 (2023). doi:10.1038/s41467-023-37454-4

Mutations in GBA1, the gene encoding the lysosomal enzyme β-glucocerebrosidase (GCase), which cause Gaucher’s disease, are the most frequent genetic risk factor for Parkinson’s disease (PD). Here, we employ global proteomic and single-cell genom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27055f5aa48d03d5dd4db093bb00cd70

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Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol

Autor: Supansa Pantoom, Larissa Hules, Christopher Schöll, Andranik Petrosyan, Maria Monticelli, Jola Pospech, Maria Vittoria Cubellis, Andreas Hermann, Jan Lukas

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 7; Pages: 3536
International journal of molecular sciences 23(7), 3536 (2022). doi:10.3390/ijms23073536

Ambroxol (ABX) is a mucolytic agent used for the treatment of respiratory diseases. Bioactivity has been demonstrated as an enhancement effect on lysosomal acid β-glucosidase (β-Glu) activity in Gaucher disease (GD). The positive effects observed h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1a416993aa00e0160dc86e341d18796
http://hdl.handle.net/11588/883958

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SWATH Mass Spectrometry-Based CSF Proteome Profile of GBA-Linked Parkinson’s Disease Patients

Autor: Saima Zafar, Aneeqa Noor, Neelam Younas, Mohsin Shafiq, Matthias Schmitz, Isabel Wurster, Kathrin Brockmann, Thomas Gasser, Inga Zerr

Publikováno v: International journal of molecular sciences 23(22), 14166 (2022). doi:10.3390/ijms232214166
International Journal of Molecular Sciences; Volume 23; Issue 22; Pages: 14166

β-glucocerebrosidase (GBA)-associated mutations are a significant risk factor for Parkinson’s disease (PD) that aggravate the disease pathology by upregulating the deposition of α-Synuclein (α-Syn). The resultant clinical profile varies for PD p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1132634afd72012180981f73d5fc494c
https://doi.org/10.3390/ijms232214166

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GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson’s Disease

Autor: Micol Avenali, Gerardo Ongari, Stefania Croce, Cristina Ghezzi, Silvia Cerri, Donato A. Di Monte, Fabio Blandini, Roberta Zangaglia, Enza Maria Valente

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 2215, p 2215 (2021)
International journal of molecular sciences 22(4), 2215 (2021). doi:10.3390/ijms22042215
International Journal of Molecular Sciences
Volume 22
Issue 4

Heterozygous mutations in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), are the strongest known genetic risk factor for Parkinson’s disease (PD). The molecular mechanisms underlying the increased PD risk and the variable p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d9f135670233cc83ce5569d9444f633
https://www.mdpi.com/1422-0067/22/4/2215

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Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation

Autor: Céline Galvagnion, Frederik Ravnkilde Marlet, Silvia Cerri, Anthony H V Schapira, Fabio Blandini, Donato A Di Monte

Publikováno v: Brain Communications
Brain 145(3), 1038-1051 (2022). doi:10.1093/brain/awab371
Galvagnion, C, Marlet, F R, Cerri, S, Schapira, A H V, Blandini, F & Di Monte, D A 2022, ' Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation ', Brain, vol. 145, no. 3, pp. 1038-1051 . https://doi.org/10.1093/brain/awab371

Intraneuronal accumulation of aggregated α-synuclein is a pathological hallmark of Parkinson’s disease. Therefore, mechanisms capable of promoting α-synuclein deposition bear important pathogenetic implications. Mutations of the glucocerebrosidas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9623e56fcb78c36ef0d281571c3eb691
https://pubmed.ncbi.nlm.nih.gov/35362022

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The NAD+ Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC and Fly Models of Parkinson’s Disease

Autor: Sigrun Nestel, Silvia De Cicco, Vasiliki Panagiotakopoulou, Cong Yu, David C. Schöndorf, Michela Deleidi, Lukas Kristoffer Schwarz, Ivana Giunta, Oliver Bandmann, Thomas Gasser, Bernd Heimrich, Pascale Baden, Jan Pruszak, Gabriele Di Napoli, Marcus Keatinge, Alexander J. Whitworth, Alvaro Sanchez-Martinez, Dina Ivanyuk

Publikováno v: Cell reports 23(10), 2976-2988 (2018). doi:10.1016/j.celrep.2018.05.009

While mitochondrial dysfunction is emerging as key in Parkinson's disease (PD), a central question remains whether mitochondria are actual disease drivers and whether boosting mitochondrial biogenesis and function ameliorates pathology. We address th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23332f701e589a7a2b4f378a16eaf621
https://doi.org/10.1016/j.celrep.2018.05.009

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Generation of two iPSC lines derived from two unrelated patients with Gaucher disease

Autor: Nagel, Maike, Reichbauer, Jennifer, Böhringer, Judith, Schelling, Yvonne, Krägeloh-Mann, Inge, Schüle, Rebecca, Ulmer, Ulrike

Publikováno v: Stem cell research 35, 101336 (2019). doi:10.1016/j.scr.2018.10.021
Stem Cell Research, Vol 35, Iss, Pp-(2019)

Gaucher disease is the most common autosomal recessive lysosomal storage disorder, caused by mutations in the β-glucocerebrosidase gene GBA. Here we describe generation of iPSC from skin-derived fibroblasts from two unrelated individuals with neuron

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7bb870179088fccc1eb55b0ab11c1f61
https://pubmed.ncbi.nlm.nih.gov/30606667

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Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease

Autor: Uwe Walter, Peter Kropp, Daniela Berg, Reiner Benecke, Arndt Rolfs, Tobias Böttcher, Bianca Meyer, Annette Grossmann

Publikováno v: Journal of neurology 260(10), 2523-2531 (2013). doi:10.1007/s00415-013-7011-2

Homozygous or compound heterozygous mutations in the glucocerebrosidase gene cause Gaucher disease. Moreover, heterozygous glucocerebrosidase gene mutations represent the most common genetic risk factor for Parkinson’s disease (PD) known so far. Su

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