| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Einat B Vitner, Ayelet Vardi, Timothy M Cox, Anthony H Futerma. Emerging therapeutic targets for Gaucher disease. Expert opinion on therapeutic targets. vol 19. issue 3. 2015-09-14. PMID:25416676. |
gaucher disease (gd) is an inherited metabolic disorder caused by mutations in the glucocerebrosidase (gba1) gene. |
2015-09-14 |
2023-08-13 |
Not clear |
| Chunzhang Yang, Herui Wang, Dongwang Zhu, Christopher S Hong, Pauline Dmitriev, Chao Zhang, Yan Li, Barbara Ikejiri, Roscoe O Brady, Zhengping Zhuan. Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation. Proceedings of the National Academy of Sciences of the United States of America. vol 112. issue 4. 2015-04-23. PMID:25583479. |
gaucher disease is caused by mutations of the gba1 gene, which encodes the lysosomal anchored gluococerebrosidase (gcase). |
2015-04-23 |
2023-08-13 |
Not clear |
| Gabriel L Galea, Lee B Meakin, Christopher M Williams, Sarah L Hulin-Curtis, Lance E Lanyon, Alastair W Poole, Joanna S Pric. Protein kinase Cα (PKCα) regulates bone architecture and osteoblast activity. The Journal of biological chemistry. vol 289. issue 37. 2015-02-19. PMID:25070889. |
female prkca(-/-) mice develop splenomegaly and reduced marrow gba1 expression reminiscent of gaucher disease, in which pkc involvement has been suggested previously. |
2015-02-19 |
2023-08-13 |
mouse |
| Maciej Machaczka, Monika Klimkowsk. Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1. Annals of hematology. vol 93. issue 10. 2015-02-18. PMID:24577513. |
novel heterozygous c.798c>g and c.1040t>g mutations in the gba1 gene are associated with a severe phenotype of gaucher disease type 1. |
2015-02-18 |
2023-08-12 |
Not clear |
| Manoj Kumar Pandey, Nicholas A Jabre, You-Hai Xu, Wujuan Zhang, Kenneth D R Setchell, Gregory A Grabowsk. Gaucher disease: chemotactic factors and immunological cell invasion in a mouse model. Molecular genetics and metabolism. vol 111. issue 2. 2014-09-23. PMID:24079945. |
gaucher disease results from mutations in gba1 that cause functional disruption of the encoded lysosomal enzyme, acid β-glucosidase. |
2014-09-23 |
2023-08-12 |
mouse |
| Tamar Farfel-Becker, Einat B Vitner, Samuel L Kelly, Jessica R Bame, Jingjing Duan, Vera Shinder, Alfred H Merrill, Kostantin Dobrenis, Anthony H Futerma. Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration. Human molecular genetics. vol 23. issue 4. 2014-09-09. PMID:24064337. |
gaucher disease is caused by the defective activity of the lysosomal enzyme, glucocerebrosidase (gcase; gba1), resulting in intracellular accumulation of the glycosphingolipids, glucosylceramide and psychosine. |
2014-09-09 |
2023-08-12 |
mouse |
| Yildiz Yildiz, Per Hoffmann, Stefan Vom Dahl, Bernadette Breiden, Roger Sandhoff, Claus Niederau, Mia Horwitz, Stefan Karlsson, Mirella Filocamo, Deborah Elstein, Michael Beck, Konrad Sandhoff, Eugen Mengel, Maria C Gonzalez, Markus M Nöthen, Ellen Sidransky, Ari Zimran, Manuel Mattheise. Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease. Orphanet journal of rare diseases. vol 8. 2014-07-17. PMID:24070122. |
gaucher disease (gd) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (gba1). |
2014-07-17 |
2023-08-12 |
Not clear |
| Nupur Dasgupta, You-Hai Xu, Sunghee Oh, Ying Sun, Li Jia, Mehdi Keddache, Gregory A Grabowsk. Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase. PloS one. vol 8. issue 10. 2014-07-11. PMID:24124461. |
gaucher disease: transcriptome analyses using microarray or mrna sequencing in a gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase. |
2014-07-11 |
2023-08-12 |
mouse |
| Nupur Dasgupta, You-Hai Xu, Sunghee Oh, Ying Sun, Li Jia, Mehdi Keddache, Gregory A Grabowsk. Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase. PloS one. vol 8. issue 10. 2014-07-11. PMID:24124461. |
gaucher disease type 1, an inherited lysosomal storage disorder, is caused by mutations in gba1 leading to defective glucocerebrosidase (gcase) function and consequent excess accumulation of glucosylceramide/glucosylsphingosine in visceral organs. |
2014-07-11 |
2023-08-12 |
mouse |
| Amar Ghisaidoobe, Pieter Bikker, Arjan C J de Bruijn, Frithjof D Godschalk, Eva Rogaar, Marieke C Guijt, Peter Hagens, Jerre M Halma, Steven M Van't Hart, Stijn B Luitjens, Vincent H S van Rixel, Mark Wijzenbroek, Thor Zweegers, Wilma E Donker-Koopman, Anneke Strijland, Rolf Boot, Gijs van der Marel, Herman S Overkleeft, Johannes M F G Aerts, Richard J B H N van den Ber. Identification of potent and selective glucosylceramide synthase inhibitors from a library of N-alkylated iminosugars. ACS medicinal chemistry letters. vol 2. issue 2. 2014-06-05. PMID:24900289. |
of these, gba1 itself is a potential drug target for the treatment of the lysosomal storage disorder, gaucher disease, and selective gba1 inhibitors are sought after as potential chemical chaperones. |
2014-06-05 |
2023-08-13 |
human |
| Derek G Burke, Ahad A Rahim, Simon N Waddington, Stefan Karlsson, Ida Enquist, Kailash Bhatia, Atul Mehta, Ashok Vellodi, Simon Heale. Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes. Journal of inherited metabolic disease. vol 36. issue 5. 2014-05-19. PMID:23151684. |
lysosomal glucocerebrosidase (gba1) deficiency is causative for gaucher disease. |
2014-05-19 |
2023-08-12 |
mouse |
| Derek G Burke, Ahad A Rahim, Simon N Waddington, Stefan Karlsson, Ida Enquist, Kailash Bhatia, Atul Mehta, Ashok Vellodi, Simon Heale. Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes. Journal of inherited metabolic disease. vol 36. issue 5. 2014-05-19. PMID:23151684. |
work is now required to ascertain whether gba2 activity is a disease modifying factor in gaucher disease and to identify the mechanism(s) responsible for triggering increased gba2 activity in gba1 deficiency states. |
2014-05-19 |
2023-08-12 |
mouse |
| Hisako Akiyama, Susumu Kobayashi, Yoshio Hirabayashi, Kimiko Murakami-Murofush. Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1. Biochemical and biophysical research communications. vol 441. issue 4. 2014-03-31. PMID:24211208. |
using a cell line generated from type 2 gaucher disease patients with severe defects in gba1 activity, we found that cholesterol glucosylation activity was very low in the cells and the overexpression of gba1 rescued the activity. |
2014-03-31 |
2023-08-12 |
human |
| M J Barrett, P Giraldo, J L Capablo, P Alfonso, P Irun, B Garcia-Rodriguez, M Pocovi, G M Pastore. Greater risk of parkinsonism associated with non-N370S GBA1 mutations. Journal of inherited metabolic disease. vol 36. issue 3. 2013-12-31. PMID:22968580. |
this study aimed to determine the comparative risk of parkinsonism in individuals who are affected or carriers of gaucher disease (gd) and to ascertain the influence of different gba1 mutations on risk/clinical expression. |
2013-12-31 |
2023-08-12 |
Not clear |
| M J Barrett, P Giraldo, J L Capablo, P Alfonso, P Irun, B Garcia-Rodriguez, M Pocovi, G M Pastore. Greater risk of parkinsonism associated with non-N370S GBA1 mutations. Journal of inherited metabolic disease. vol 36. issue 3. 2013-12-31. PMID:22968580. |
gba1 heterozygotes with non-n370s mutations associated with gaucher disease have an increased risk of parkinsonism compared to those with n370s mutations. |
2013-12-31 |
2023-08-12 |
Not clear |
| Na-Young Yang, Yu-Na Lee, He-Jin Lee, Yoon Suk Kim, Seung-Jae Le. Glucocerebrosidase, a new player changing the old rules in Lewy body diseases. Biological chemistry. vol 394. issue 7. 2013-11-05. PMID:23435096. |
mutations in the gene encoding glucocerebrosidase (gba1) cause gaucher disease (gd), a lysosomal storage disease with recessive inheritance. |
2013-11-05 |
2023-08-12 |
Not clear |
| Ying Sun, Wujuan Zhang, You-Hai Xu, Brian Quinn, Nupur Dasgupta, Benjamin Liou, Kenneth D R Setchell, Gregory A Grabowsk. Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. PloS one. vol 8. issue 3. 2013-09-10. PMID:23520473. |
substrate compositional variation with tissue/region and gba1 mutations in mouse models--implications for gaucher disease. |
2013-09-10 |
2023-08-12 |
mouse |
| Ying Sun, Wujuan Zhang, You-Hai Xu, Brian Quinn, Nupur Dasgupta, Benjamin Liou, Kenneth D R Setchell, Gregory A Grabowsk. Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. PloS one. vol 8. issue 3. 2013-09-10. PMID:23520473. |
gaucher disease results from gba1 mutations that lead to defective acid β-glucosidase (gcase) mediated cleavage of glucosylceramide (gc) and glucosylsphingosine as well as heterogeneous manifestations in the viscera and cns. |
2013-09-10 |
2023-08-12 |
mouse |
| Inna Bendikov-Bar, Gali Maor, Mirella Filocamo, Mia Horowit. Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase. Blood cells, molecules & diseases. vol 50. issue 2. 2013-07-03. PMID:23158495. |
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). |
2013-07-03 |
2023-08-12 |
Not clear |
| Hamid Saranjam, Sameer S Chopra, Harvey Levy, Barbara K Stubblefield, Emerson Maniwang, Ian J Cohen, Hagit Baris, Ellen Sidransky, Nahid Tayeb. A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. European journal of human genetics : EJHG. vol 21. issue 1. 2013-05-20. PMID:22713811. |
gaucher disease (gd) is an autosomal recessive storage disorder that most commonly results from the inheritance of one identifiable mutant glucocerebrosidase (gba1) allele from each parent. |
2013-05-20 |
2023-08-12 |
Not clear |