| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Manoj K Pandey, Gregory A Grabowski, Jörg Köh. An unexpected player in Gaucher disease: The multiple roles of complement in disease development. Seminars in immunology. vol 37. 2018-11-09. PMID:29478824. |
a frequent lsd is gaucher disease (gd), caused by autosomal recessively inherited mutations in gba1, resulting in functional defects of the encoded enzyme, acid β-glucosidase (glucocerebrosidase, gcase). |
2018-11-09 |
2023-08-13 |
Not clear |
| Nahid Tayebi, Loukia Parisiadou, Bahafta Berhe, Ashley N Gonzalez, Jenny Serra-Vinardell, Raphael J Tamargo, Emerson Maniwang, Zachary Sorrentino, Hideji Fujiwara, Richard J Grey, Shahzeb Hassan, Yotam N Blech-Hermoni, Chuyu Chen, Ryan McGlinchey, Chrissy Makariou-Pikis, Mieu Brooks, Edward I Ginns, Daniel S Ory, Benoit I Giasson, Ellen Sidransk. Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course. Molecular genetics and metabolism. vol 122. issue 4. 2018-08-28. PMID:29173981. |
mutations in gba1 encountered in gaucher disease are a leading risk factor for parkinson disease and associated lewy body disorders. |
2018-08-28 |
2023-08-13 |
mouse |
| Santosh K Dasari, Eyal Schejter, Shani Bialik, Aya Shkedy, Vered Levin-Salomon, Smadar Levin-Zaidman, Adi Kimch. Death by over-eating: The Gaucher disease associated gene GBA1, identified in a screen for mediators of autophagic cell death, is necessary for developmental cell death in Drosophila midgut. Cell cycle (Georgetown, Tex.). vol 16. issue 21. 2018-08-07. PMID:28933588. |
death by over-eating: the gaucher disease associated gene gba1, identified in a screen for mediators of autophagic cell death, is necessary for developmental cell death in drosophila midgut. |
2018-08-07 |
2023-08-13 |
human |
| Suelen P Basgalupp, Marina Siebert, Filippo Pinto E Vairo, Anisse Marques Chami, Louise Lapagesse de Camargo Pinto, Gerson da S Carvalho, Ida Vanessa D Schwart. Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients. Blood cells, molecules & diseases. vol 68. 2018-07-16. PMID:27825739. |
use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the gba1 gene in gaucher disease patients. |
2018-07-16 |
2023-08-13 |
Not clear |
| Suelen P Basgalupp, Marina Siebert, Filippo Pinto E Vairo, Anisse Marques Chami, Louise Lapagesse de Camargo Pinto, Gerson da S Carvalho, Ida Vanessa D Schwart. Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients. Blood cells, molecules & diseases. vol 68. 2018-07-16. PMID:27825739. |
gaucher disease (gd) is caused by the deficient activity of β-glucocerebrosidase due to pathogenic mutations in the gba1. |
2018-07-16 |
2023-08-13 |
Not clear |
| Hila Braunstein, Gali Maor, Gaya Chicco, Mirella Filocamo, Ari Zimran, Mia Horowit. UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease. Blood cells, molecules & diseases. vol 68. 2018-07-16. PMID:27856178. |
upr activation and chop mediated induction of gba1 transcription in gaucher disease. |
2018-07-16 |
2023-08-13 |
drosophila_melanogaster |
| Hila Braunstein, Gali Maor, Gaya Chicco, Mirella Filocamo, Ari Zimran, Mia Horowit. UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease. Blood cells, molecules & diseases. vol 68. 2018-07-16. PMID:27856178. |
in gaucher disease (gd), resulting from mutations in the gba1 gene, encoding lysosomal acid β-glucocerebrosidase (gcase), a certain fraction of the mutant variants is retained in the er and activates the upr. |
2018-07-16 |
2023-08-13 |
drosophila_melanogaster |
| Sybrin P Schröder, Liang Wu, Marta Artola, Thomas Hansen, Wendy A Offen, Maria J Ferraz, Kah-Yee Li, Johannes M F G Aerts, Gijsbert A van der Marel, Jeroen D C Codée, Gideon J Davies, Herman S Overkleef. Gluco-1 H-imidazole: A New Class of Azole-Type β-Glucosidase Inhibitor. Journal of the American Chemical Society. vol 140. issue 15. 2018-07-09. PMID:29601200. |
all compounds inhibit human retaining β-glucosidase, gba1, with the most potent ones inhibiting this enzyme (deficient in gaucher disease) on a par with glucoimidazole. |
2018-07-09 |
2023-08-13 |
human |
| Deborah Elstein, Björn Mellgard, Quinn Dinh, Lan Lan, Yongchang Qiu, Claudia Cozma, Sabrina Eichler, Tobias Böttcher, Ari Zimra. Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials. Molecular genetics and metabolism. vol 122. issue 1-2. 2018-05-18. PMID:28851512. |
gaucher disease (gd), an autosomal recessive lipid storage disorder, arises from mutations in the gba1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. |
2018-05-18 |
2023-08-13 |
Not clear |
| Anna Migdalska-Richards, Wai Kin D Ko, Qin Li, Erwan Bezard, Anthony H V Schapir. Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate. Synapse (New York, N.Y.). vol 71. issue 7. 2018-02-27. PMID:28295625. |
mutations in the glucocerebrosidase 1 (gba1) gene are related to both parkinson disease (pd) and gaucher disease (gd). |
2018-02-27 |
2023-08-13 |
mouse |
| Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S Ory, William J Pavan, Ellen Sidransk. A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease. Disease models & mechanisms. vol 9. issue 7. 2017-12-04. PMID:27482815. |
gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene gba1 dysfunctional glucocerebrosidase leads to accumulation of glucosylceramide and glycosylsphingosine in various cell types and organs. |
2017-12-04 |
2023-08-13 |
mouse |
| Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S Ory, William J Pavan, Ellen Sidransk. A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease. Disease models & mechanisms. vol 9. issue 7. 2017-12-04. PMID:27482815. |
in recent years, research on the pathophysiology of gaucher disease, the molecular link between gaucher and parkinson disease, and novel therapeutics, have accelerated the need for relevant cell models with gba1 mutations. |
2017-12-04 |
2023-08-13 |
mouse |
| Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S Ory, William J Pavan, Ellen Sidransk. A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease. Disease models & mechanisms. vol 9. issue 7. 2017-12-04. PMID:27482815. |
although induced pluripotent stem cells, primary rodent neurons, and transfected neuroblastoma cell lines have been used to study the effect of glucocerebrosidase deficiency on neuronal function, these models have limitations because of challenges in culturing and propagating the cells, low yield, and the introduction of exogenous mutant gba1 to address some of these difficulties, we established a high yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of gaucher disease. |
2017-12-04 |
2023-08-13 |
mouse |
| Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M Suárez-Rivero, Gustavo Tiscornia, José A Sánchez-Alcáza. Coenzyme Q Orphanet journal of rare diseases. vol 12. issue 1. 2017-12-01. PMID:28166796. |
coenzyme q gaucher disease (gd) is caused by mutations in the gba1 gene which encodes lysosomal β-glucocerebrosidase (gcase). |
2017-12-01 |
2023-08-13 |
Not clear |
| Olive Jung, Samarjit Patnaik, Juan Marugan, Ellen Sidransky, Wendy Westbroe. Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease. Expert review of proteomics. vol 13. issue 5. 2017-10-18. PMID:27098312. |
gaucher disease, caused by pathological mutations gba1, encodes the lysosome-resident enzyme glucocerebrosidase, which cleaves glucosylceramide into glucose and ceramide. |
2017-10-18 |
2023-08-13 |
Not clear |
| Olive Jung, Samarjit Patnaik, Juan Marugan, Ellen Sidransky, Wendy Westbroe. Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease. Expert review of proteomics. vol 13. issue 5. 2017-10-18. PMID:27098312. |
gaucher disease has broad clinical heterogeneity, and mutations in gba1 are a risk factor for the development of different synucleinopathies. |
2017-10-18 |
2023-08-13 |
Not clear |
| Einat B Vitner, Tamar Farfel-Becker, Natalia Santos Ferreira, Dena Leshkowitz, Piyush Sharma, Karl S Lang, Anthony H Futerma. Induction of the type I interferon response in neurological forms of Gaucher disease. Journal of neuroinflammation. vol 13. issue 1. 2017-09-29. PMID:27175482. |
gaucher disease, the most common lysosomal storage disease, is caused by mutations in the gba1 gene and is a significant risk factor for parkinson's disease; in some forms of gaucher disease, neuroinflammation is observed. |
2017-09-29 |
2023-08-13 |
Not clear |
| Lungisa Bickle, John J Hopwood, Litsa Karageorgo. Analysis of sheep α-synuclein provides a molecular strategy for the reduction of fibrillation. Biochimica et biophysica acta. Proteins and proteomics. vol 1865. issue 3. 2017-09-26. PMID:28007442. |
recently, we characterized sheep with gaucher disease and since gba1 mutations represent the highest genetic risk factor for pd, we have investigated α-synuclein fibrillation in the sheep. |
2017-09-26 |
2023-08-13 |
human |
| Anthony H Futerman, Frances M Plat. The metabolism of glucocerebrosides - From 1965 to the present. Molecular genetics and metabolism. vol 120. issue 1-2. 2017-08-29. PMID:27955980. |
gaucher disease is caused by the defective catabolism of the simple glycosphingolipid, glucosylceramide (glccer), due to mutations in the gba1 gene which encodes for acid β-glucosidase (gcase), the lysosomal enzyme that degrades glccer. |
2017-08-29 |
2023-08-13 |
Not clear |
| Elma Aflaki, Wendy Westbroek, Ellen Sidransk. The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease. Neuron. vol 93. issue 4. 2017-08-22. PMID:28231462. |
the discovery of a link between mutations in gba1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with gaucher disease with parkinsonism. |
2017-08-22 |
2023-08-13 |
Not clear |