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Akademický článek

The Uncovered Function of the Drosophila GBA1a-Encoded Protein

Autor: Or Cabasso, Sumit Paul, Gali Maor, Metsada Pasmanik-Chor, Wouter Kallemeijn, Johannes Aerts, Mia Horowitz

Publikováno v: Cells, Vol 10, Iss 3, p 630 (2021)

Human GBA1 encodes lysosomal acid β-glucocerebrosidase (GCase), which hydrolyzes cleavage of the beta-glucosidic linkage of glucosylceramide (GlcCer). Mutations in this gene lead to reduced GCase activity, accumulation of glucosylceramide and glucos

Externí odkaz: https://doaj.org/article/1a3b960c9e94479e8bff3c7edfa4213b

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The Uncovered Function of the Drosophila GBA1a-Encoded Protein

Autor: Gali Maor, Sumit Paul, Johannes M. F. G. Aerts, Or Cabasso, Mia Horowitz, Wouter W. Kallemeijn, Metsada Pasmanik-Chor

Publikováno v: Cells, Vol 10, Iss 630, p 630 (2021)
Cells, 10(3). MDPI} {AG
Cells
Volume 10
Issue 3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e65edf09f484327f8f31aa116c442131
https://www.mdpi.com/2073-4409/10/3/630

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Misfolding of Lysosomal α-Galactosidase a in a Fly Model and its Alleviation by the Pharmacological Chaperone Migalastat

Autor: Gali Maor, Maria Papazian, Jan Lukas, Arndt Rolfs, Mia Horowitz, Hila Braunstein

Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 19
International Journal of Molecular Sciences, Vol 21, Iss 7397, p 7397 (2020)

Fabry disease, an X-linked recessive lysosomal disease, results from mutations in the GLA gene encoding lysosomal &alpha
galactosidase A (&alpha
Gal A). Due to these mutations, there is accumulation of globotriaosylceramide (GL-3) in plasma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89cc5486335a2185a8066231a0006adc

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Inflammation and its alleviation in a fly model for neuronopathic Gaucher disease

Autor: Sumit Paul, Or Cabasso, Mia Horowitz, Gali Maor, Orly Dorot, Johannes M. F. G. Aerts

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5af8e8d9abda924b1cc5d33f16762740
https://hdl.handle.net/1887/3142314

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UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease

Autor: Mia Horowitz, Gaya Chicco, Gali Maor, Ari Zimran, Hila Braunstein, Mirella Filocamo

Publikováno v: Blood Cells, Molecules, and Diseases. 68:21-29

Chronic presence of mutant, misfolded proteins in the endoplasmic reticulum (ER) initiates ER stress and induces the Unfolded Protein Response (UPR).In Gaucher disease (GD), resulting from mutations in the GBA1 gene, encoding lysosomal acid β-glucoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3207c5e274536a9a94974c882b942ba8
https://doi.org/10.1016/j.bcmd.2016.10.025

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Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease

Autor: Orly Dorot, Or Cabasso, Johannes M. F. G. Aerts, Gali Maor, Metsada Pasmanik-Chor, Mina Mirzaian, Sumit Paul, Maria J. Ferraz, Mia Horowitz, Olga Krivoruk

Publikováno v: Journal of Clinical Medicine, Vol 8, Iss 9, p 1420 (2019)
Journal of Clinical Medicine
Journal of Clinical Medicine, 8(9), 1420. MDPI
Journal of Clinical Medicine; Volume 8; Issue 9; Pages: 1420

Gaucher disease (GD) results from mutations in the GBA1 gene, which encodes lysosomal glucocerebrosidase (GCase). The large number of mutations known to date in the gene lead to a heterogeneous disorder, which is divided into a non-neuronopathic, typ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d8e58d52197c282cb28b6f354aee83
https://www.mdpi.com/2077-0383/8/9/1420

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The effect of mutant GBA1 on accumulation and aggregation of α-synuclein

Autor: Mia Horowitz, Gali Maor, Debora Rapaport

Publikováno v: Human molecular genetics. 28(11)

Gaucher disease (GD) patients and carriers of GD mutations have a higher propensity to develop Parkinson's disease (PD) in comparison to the non-GD population. This implies that mutant GBA1 allele is a predisposing factor for the development of PD. O

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9193bc7eec55b932a081c333e95fd782
https://pubmed.ncbi.nlm.nih.gov/30615125

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The fruit fly Drosophila melanogaster as a model to study Gaucher disease

Autor: Sumit Paul, Mina Mirzaian, Hans Aerts, Gali Maor, Orly Dorot, Mia Horowitz, Or Cabasso

Publikováno v: Molecular Genetics and Metabolism. 126:S35

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::218f74b52b3c8361eb63892e6889a323
https://doi.org/10.1016/j.ymgme.2018.12.068

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Processing and maturation of human glucocerebrosidase

Autor: Gali Maor, Inna Bendikov-Bar, Mia Horowitz

Publikováno v: Gaucher Disease: Basic and Clinical Perspectives. :140-157

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6abcffc097108db3a8095c954c5be583
https://doi.org/10.2217/ebo.12.298

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Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

Autor: Mirella Filocamo, Gali Maor, Mia Horowitz, Inna Bendikov-Bar

Publikováno v: Blood Cells, Molecules & Diseases

Gaucher disease (GD) is characterized by accumulation of glucosylceramide in lysosomes due to mutations in the GBA1 gene encoding the lysosomal hydrolase β-glucocerebrosidase (GCase). The disease has a broad spectrum of phenotypes, which were divide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::434104fc4f54a2b95498478b6b19b103
http://europepmc.org/articles/PMC3547170

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