| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Elma Aflaki, Daniel K Borger, Nima Moaven, Barbara K Stubblefield, Steven A Rogers, Samarjit Patnaik, Frank J Schoenen, Wendy Westbroek, Wei Zheng, Patricia Sullivan, Hideji Fujiwara, Rohini Sidhu, Zayd M Khaliq, Grisel J Lopez, David S Goldstein, Daniel S Ory, Juan Marugan, Ellen Sidransk. A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 36. issue 28. 2017-07-18. PMID:27413154. |
among the known genetic risk factors for parkinson disease, mutations in gba1, the gene responsible for the lysosomal disorder gaucher disease, are the most common. |
2017-07-18 |
2023-08-13 |
human |
| Manoj K Pandey, Thomas A Burrow, Reena Rani, Lisa J Martin, David Witte, Kenneth D Setchell, Mary A Mckay, Albert F Magnusen, Wujuan Zhang, Benjamin Liou, Jörg Köhl, Gregory A Grabowsk. Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease. Nature. vol 543. issue 7643. 2017-07-18. PMID:28225753. |
gaucher disease is caused by mutations in gba1, which encodes the lysosomal enzyme glucocerebrosidase (gcase). |
2017-07-18 |
2023-08-13 |
mouse |
| Kerri J Kinghorn, Sebastian Grönke, Jorge Iván Castillo-Quan, Nathaniel S Woodling, Li Li, Ernestas Sirka, Matthew Gegg, Kevin Mills, John Hardy, Ivana Bjedov, Linda Partridg. A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 36. issue 46. 2017-07-17. PMID:27852774. |
glucocerebrosidase (gba1) mutations are associated with gaucher disease (gd), an autosomal recessive disorder caused by functional deficiency of glucocerebrosidase (gba), a lysosomal enzyme that hydrolyzes glucosylceramide to ceramide and glucose. |
2017-07-17 |
2023-08-13 |
drosophila_melanogaster |
| Anna Migdalska-Richards, Anthony H V Schapir. The relationship between glucocerebrosidase mutations and Parkinson disease. Journal of neurochemistry. vol 139 Suppl 1. 2017-07-14. PMID:26860875. |
parkinson disease (pd) is the second most common neurodegenerative disorder after alzheimer disease, whereas gaucher disease (gd) is the most frequent lysosomal storage disorder caused by homozygous mutations in the glucocerebrosidase (gba1) gene. |
2017-07-14 |
2023-08-13 |
Not clear |
| Judith Blanz, Paul Safti. Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance. Journal of neurochemistry. vol 139 Suppl 1. 2017-07-14. PMID:26860955. |
the knowledge obtained from the study of carriers or patients suffering from gaucher disease (a common lysosomal storage disorder because of gba1 mutations) is of particular importance for understanding the role of the enzyme and its catabolic pathway in the development of synucleinopathies. |
2017-07-14 |
2023-08-13 |
Not clear |
| Ratana Charoenwattanasatien, Salila Pengthaisong, Imogen Breen, Risa Mutoh, Sompong Sansenya, Yanling Hua, Anupong Tankrathok, Liang Wu, Chomphunuch Songsiriritthigul, Hideaki Tanaka, Spencer J Williams, Gideon J Davies, Genji Kurisu, James R Ketudat Cairn. Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2). ACS chemical biology. vol 11. issue 7. 2017-07-04. PMID:27115290. |
genetic defects in gba2 result in spastic paraplegia and cerebellar ataxia, while cross-talk between gba2 and gba1 glucosylceramidases may affect gaucher disease. |
2017-07-04 |
2023-08-13 |
human |
| Roberto A Ortega, Paola A Torres, Matthew Swan, William Nichols, Sarah Boschung, Deborah Raymond, Matthew J Barrett, Brooke A Johannes, Lawrence Severt, Vicki Shanker, Ann L Hunt, Susan Bressman, Gregory M Pastores, Rachel Saunders-Pullma. Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 28. 2017-03-23. PMID:26857292. |
while glucocerebrosidase enzyme (gcase) activity is consistently low in gaucher disease, there is a range of leukocyte gcase activity in healthy heterozygous gba1 mutation carriers. |
2017-03-23 |
2023-08-13 |
Not clear |
| Roberto A Ortega, Paola A Torres, Matthew Swan, William Nichols, Sarah Boschung, Deborah Raymond, Matthew J Barrett, Brooke A Johannes, Lawrence Severt, Vicki Shanker, Ann L Hunt, Susan Bressman, Gregory M Pastores, Rachel Saunders-Pullma. Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 28. 2017-03-23. PMID:26857292. |
to determine whether gcase activity may be a marker for pd with heterozygous gba1 mutations (gba1 mutation pd, gba pd), gba pd patients (n=15) were compared to pd patients without heterozygous gba1 mutations (idiopathic pd; n=8), heterozygous gba1 carriers without pd (asymptomatic carriers; n=4), and biallelic mutation carriers with pd (gaucher disease with pd, gd1 pd; n=3) in a pilot study. |
2017-03-23 |
2023-08-13 |
Not clear |
| Jinlong Jian, Shuai Zhao, Qing-Yun Tian, Helen Liu, Yunpeng Zhao, Wen-Chi Chen, Gabriele Grunig, Paola A Torres, Betty C Wang, Bai Zeng, Gregory Pastores, Wei Tang, Ying Sun, Gregory A Grabowski, Max Xiangtian Kong, Guilin Wang, Ying Chen, Fengxia Liang, Herman S Overkleeft, Rachel Saunders-Pullman, Gerald L Chan, Chuan-Ju Li. Association Between Progranulin and Gaucher Disease. EBioMedicine. vol 11. 2017-02-14. PMID:27515686. |
gaucher disease (gd) is a genetic disease caused by mutations in the gba1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (gcase). |
2017-02-14 |
2023-08-13 |
Not clear |
| Jinlong Jian, Qing-Yun Tian, Aubryanna Hettinghouse, Shuai Zhao, Helen Liu, Jianlu Wei, Gabriele Grunig, Wujuan Zhang, Kenneth D R Setchell, Ying Sun, Herman S Overkleeft, Gerald L Chan, Chuan-Ju Li. Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease. EBioMedicine. vol 13. 2017-02-14. PMID:27789271. |
gaucher disease (gd), the most common lysosomal storage disease, is caused by mutations in gba1 encoding of β-glucocerebrosidase (gcase). |
2017-02-14 |
2023-08-13 |
mouse |
| Leonardo Astudillo, Nicole Therville, Céline Colacios, Bruno Ségui, Nathalie Andrieu-Abadie, Thierry Levad. Glucosylceramidases and malignancies in mammals. Biochimie. vol 125. 2017-01-13. PMID:26582417. |
gba1 is a lysosomal hydrolase whose deficiency causes gaucher disease, the most prevalent inherited lysosomal storage disorder. |
2017-01-13 |
2023-08-13 |
Not clear |
| Leonardo Astudillo, Nicole Therville, Céline Colacios, Bruno Ségui, Nathalie Andrieu-Abadie, Thierry Levad. Glucosylceramidases and malignancies in mammals. Biochimie. vol 125. 2017-01-13. PMID:26582417. |
defective gba1 enzyme activity in humans, i.e., gaucher disease, is associated with an increased risk of multiple myeloma and other malignancies. |
2017-01-13 |
2023-08-13 |
Not clear |
| Bethan S Kilpatrick, Joana Magalhaes, Michelle S Beavan, Alisdair McNeill, Matthew E Gegg, Michael W J Cleeter, Duncan Bloor-Young, Grant C Churchill, Michael R Duchen, Anthony H Schapira, Sandip Pate. Endoplasmic reticulum and lysosomal Ca²⁺ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts. Cell calcium. vol 59. issue 1. 2016-10-26. PMID:26691915. |
mutations in β-glucocerebrosidase (encoded by gba1) cause gaucher disease (gd), a lysosomal storage disorder, and increase the risk of developing parkinson disease (pd). |
2016-10-26 |
2023-08-13 |
human |
| Ola Awad, Chinmoy Sarkar, Leelamma M Panicker, Diana Miller, Xianmin Zeng, Judi A Sgambato, Marta M Lipinski, Ricardo A Feldma. Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells. Human molecular genetics. vol 24. issue 20. 2016-07-12. PMID:26220978. |
gaucher disease (gd) is caused by mutations in the gba1 gene, which encodes the lysosomal enzyme glucocerebrosidase (gcase). |
2016-07-12 |
2023-08-13 |
Not clear |
| Emily M Rocha, Gaynor A Smith, Eric Park, Hongmei Cao, Anne-Renee Graham, Eilish Brown, Jesse R McLean, Melissa A Hayes, Jonathan Beagan, Sarah C Izen, Eduardo Perez-Torres, Penelope J Hallett, Ole Isacso. Sustained Systemic Glucocerebrosidase Inhibition Induces Brain α-Synuclein Aggregation, Microglia and Complement C1q Activation in Mice. Antioxidants & redox signaling. vol 23. issue 6. 2016-05-18. PMID:26094487. |
loss-of-function mutations in gba1, which cause the autosomal recessive lysosomal storage disease, gaucher disease (gd), are also a key genetic risk factor for the α-synucleinopathies, including parkinson's disease (pd) and dementia with lewy bodies. |
2016-05-18 |
2023-08-13 |
mouse |
| Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Juan Garrido-Maraver, Mario D Cordero, Marina Villanueva Paz, Ana Delgado Pavón, Elizabet Alcocer-Gómez, Isabel de Lavera, Patricia Ybot-González, Ana Paula Zaderenko, Carmen Ortiz Mellet, José M García Fernández, José A Sánchez-Alcáza. Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease. Scientific reports. vol 5. 2016-03-24. PMID:26045184. |
gaucher disease (gd) is caused by mutations in the gba1 gene, which encodes lysosomal β-glucocerebrosidase. |
2016-03-24 |
2023-08-13 |
Not clear |
| Ying Sun, Jane Florer, Christopher N Mayhew, Zhanfeng Jia, Zhiying Zhao, Kui Xu, Huimin Ran, Benjamin Liou, Wujuan Zhang, Kenneth D R Setchell, Jianguo Gu, Gregory A Grabowsk. Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology. PloS one. vol 10. issue 3. 2016-02-23. PMID:25822147. |
gaucher disease (gd) is caused by insufficient activity of acid β-glucosidase (gcase) resulting from mutations in gba1. |
2016-02-23 |
2023-08-13 |
Not clear |
| Zdenek Berger, Sarah Perkins, Claude Ambroise, Christine Oborski, Matthew Calabrese, Stephen Noell, David Riddell, Warren D Hirs. Tool compounds robustly increase turnover of an artificial substrate by glucocerebrosidase in human brain lysates. PloS one. vol 10. issue 3. 2015-11-30. PMID:25763858. |
mutations in glucocerebrosidase (gba1) cause gaucher disease and also represent a common risk factor for parkinson's disease and dementia with lewy bodies. |
2015-11-30 |
2023-08-13 |
mouse |
| Ilaria Zancan, Stefania Bellesso, Roberto Costa, Marika Salvalaio, Marina Stroppiano, Chrissy Hammond, Francesco Argenton, Mirella Filocamo, Enrico Mor. Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling. Human molecular genetics. vol 24. issue 5. 2015-11-16. PMID:25326392. |
loss of lysosomal glucocerebrosidase (gba1) function is responsible for several organ defects, including skeletal abnormalities in type 1 gaucher disease (gd). |
2015-11-16 |
2023-08-13 |
human |
| Sonya Barnes, You-Hai Xu, Wujuan Zhang, Benjamin Liou, Kenneth D R Setchell, Liming Bao, Gregory A Grabowski, Ying Su. Ubiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model. PloS one. vol 9. issue 12. 2015-10-01. PMID:25551612. |
to modulate cellular substrate concentration in viable mouse models of gaucher disease (gba1 mutants), a novel mouse model was created with enhanced glycosphingolipid biosynthesis. |
2015-10-01 |
2023-08-13 |
mouse |