| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jaehyeok Roh, Subbaya Subramanian, Neal J Weinreb, Reena V Karth. Gaucher disease - more than just a rare lipid storage disease. Journal of molecular medicine (Berlin, Germany). 2022-01-23. PMID:35066608. |
gaucher disease (gd), one of the most common lysosomal storage diseases, is caused by mutations in the gene, gba1, that leads to defective glucocerebrosidase activity resulting in the accumulation and storage of glycosphingolipids. |
2022-01-23 |
2023-08-13 |
Not clear |
| Ru-Xue Bo, Yan-Yan Li, Tian-Tian Zhou, Nai-Hong Chen, Yu-He Yua. The neuroinflammatory role of glucocerebrosidase in Parkinson's disease. Neuropharmacology. 2022-01-22. PMID:35065083. |
homologous gba1 mutations cause gaucher disease (gd) and heterologous mutations cause parkinson's disease (pd). |
2022-01-22 |
2023-08-13 |
Not clear |
| Guillermo I Drelichman, Nicolas Fernández Escobar, Barbara C Soberon, Nora F Basack, Joaquin Frabasil, Andrea B Schenone, Gabriel Aguilar, Maria S Larroudé, James R Knight, Dejian Zhao, Jiapeng Ruan, Pramod K Mistr. Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease. Molecular genetics and metabolism reports. vol 29. 2021-12-03. PMID:34820281. |
long-read single molecule real-time (smrt) sequencing of gba1 locus in gaucher disease national cohort from argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: collaborative study from the argentine group for diagnosis and treatment of gaucher disease. |
2021-12-03 |
2023-08-13 |
Not clear |
| Chiao-Yin Lee, Elisa Menozzi, Kai-Yin Chau, Anthony H V Schapir. Glucocerebrosidase 1 and leucine-rich repeat kinase 2 in Parkinson disease and interplay between the two genes. Journal of neurochemistry. vol 159. issue 5. 2021-11-29. PMID:34618942. |
the glucocerebrosidase 1 gene (gba1), bi-allelic variants of which cause gaucher disease (gd), encodes the lysosomal enzyme glucocerebrosidase (gcase) and is a risk factor for parkinson disease (pd). |
2021-11-29 |
2023-08-13 |
Not clear |
| Manasa P Srikanth, Jace W Jones, Maureen Kane, Ola Awad, Tea Soon Park, Elias T Zambidis, Ricardo A Feldma. Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates lysosomal compartment through mammalian target of rapamycin complex 1. Stem cells translational medicine. vol 10. issue 7. 2021-11-22. PMID:33656802. |
gaucher disease (gd) is a lysosomal storage disorder caused by mutations in gba1, the gene that encodes lysosomal β-glucocerebrosidase (gcase). |
2021-11-22 |
2023-08-13 |
human |
| Elisa Menozzi, Anthony H V Schapir. Enhancing the Activity of Glucocerebrosidase as a Treatment for Parkinson Disease. CNS drugs. vol 34. issue 9. 2021-10-20. PMID:32607746. |
homozygous or compound heterozygous gba1 mutations cause the lysosomal storage disorder gaucher disease (gd), characterized by deficient activity of the glucocerebrosidase enzyme (gcase). |
2021-10-20 |
2023-08-13 |
Not clear |
| M J Yañez, F Campos, T Marín, A D Klein, A H Futerman, A R Alvarez, S Zanlung. c-Abl activates RIPK3 signaling in Gaucher disease. Biochimica et biophysica acta. Molecular basis of disease. vol 1867. issue 5. 2021-09-10. PMID:33549745. |
gaucher disease (gd) is caused by homozygous mutations in the gba1 gene, which encodes the lysosomal β-glucosidase (gba) enzyme. |
2021-09-10 |
2023-08-13 |
mouse |
| P A Rozenfeld, A N Crivaro, M Ormazabal, J M Mucci, C Bondar, M V Delpin. Unraveling the mystery of Gaucher bone density pathophysiology. Molecular genetics and metabolism. vol 132. issue 2. 2021-08-09. PMID:32782168. |
gaucher disease (gd) is caused by pathogenic mutations in gba1, the gene that encodes the lysosomal enzyme β-glucocerebrosidase. |
2021-08-09 |
2023-08-13 |
Not clear |
| Emily C Daykin, Emory Ryan, Ellen Sidransk. Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes. Molecular genetics and metabolism. vol 132. issue 2. 2021-08-09. PMID:33483255. |
gaucher disease (gd), resulting from biallelic mutations in the gene gba1, is a monogenic recessively inherited mendelian disorder with a wide range of phenotypic presentations. |
2021-08-09 |
2023-08-13 |
Not clear |
| Nicoletta Plotegher, Dany Perocheau, Ruggero Ferrazza, Giulia Massaro, Gauri Bhosale, Federico Zambon, Ahad A Rahim, Graziano Guella, Simon N Waddington, Gyorgy Szabadkai, Michael R Duche. Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload. Cell death and differentiation. vol 27. issue 5. 2021-06-30. PMID:31685979. |
heterozygous mutations of the lysosomal enzyme glucocerebrosidase (gba1) represent the major genetic risk for parkinson's disease (pd), while homozygous gba1 mutations cause gaucher disease, a lysosomal storage disorder, which may involve severe neurodegeneration. |
2021-06-30 |
2023-08-13 |
Not clear |
| Aimee Donald, Chong Y Tan, Anupam Chakrapani, Derralyn A Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, Martin Gorges, Simon A Jones, Erich Schneide. Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease. Orphanet journal of rare diseases. vol 15. issue 1. 2021-06-18. PMID:33334373. |
neurological forms of gaucher disease, the inherited disorder of β-glucosylceramidase caused by bi-allelic variants in gba1, is a progressive disorder which lacks a disease-modifying therapy. |
2021-06-18 |
2023-08-13 |
Not clear |
| Safoura Reza, Maciej Ugorski, Jarosław Suchańsk. Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease. Glycobiology. 2021-06-03. PMID:34080016. |
such an important lysosomal storage disease as gaucher disease and a neurodegenerative disorder as parkinson's disease are characterized by mutations in the gba1 gene, decreased activity of lysosomal gba1 glucosylceramidase and accumulation of glccer. |
2021-06-03 |
2023-08-13 |
Not clear |
| Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio, Generoso Andri. Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives? Orphanet journal of rare diseases. vol 15. issue 1. 2021-05-18. PMID:32967694. |
how to address the counseling of lifetime risk of developing parkinson's disease in patients with gaucher disease and their family members carrying a single variant of the gba1 gene is not yet clearly defined. |
2021-05-18 |
2023-08-13 |
Not clear |
| A Crivaro, C Bondar, J M Mucci, M Ormazabal, R A Feldman, M V Delpino, P A Rozenfel. Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis. Molecular genetics and metabolism. vol 130. issue 4. 2021-05-03. PMID:32536424. |
gaucher disease (gd) is caused by pathogenic mutations in gba1, the gene that encodes the lysosomal enzyme β-glucocerebrosidase. |
2021-05-03 |
2023-08-13 |
Not clear |
| Tomohiko Akiyama, Saeko Sato, Shigeru B H Ko, Osamu Sano, Sho Sato, Masayo Saito, Hiroaki Nagai, Minoru S H Ko, Hidehisa Iwat. Synthetic mRNA-based differentiation method enables early detection of Parkinson's phenotypes in neurons derived from Gaucher disease-induced pluripotent stem cells. Stem cells translational medicine. vol 10. issue 4. 2021-03-24. PMID:33342090. |
gaucher disease, the most prevalent metabolic storage disorder, is caused by mutations in the glucocerebrosidase gene gba1, which lead to the accumulation of glucosylceramide (glccer) in affected cells. |
2021-03-24 |
2023-08-13 |
Not clear |
| Agnieszka Ługowska, Katarzyna Hetmańczyk-Sawicka, Roksana Iwanicka-Nowicka, Anna Fogtman, Jarosław Cieśla, Joanna Karolina Purzycka-Olewiecka, Dominika Sitarska, Rafał Płoski, Mirella Filocamo, Susanna Lualdi, Małgorzata Bednarska-Makaruk, Marta Koblowsk. Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes. Scientific reports. vol 9. issue 1. 2020-10-15. PMID:30988500. |
gaucher disease (gd) is a rare inherited metabolic disease caused by pathogenic variants in the gba1 gene. |
2020-10-15 |
2023-08-13 |
human |
| Benjamin Liou, Wujuan Zhang, Venette Fannin, Brian Quinn, Huimin Ran, Kui Xu, Kenneth D R Setchell, David Witte, Gregory A Grabowski, Ying Su. Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype. Scientific reports. vol 9. issue 1. 2020-10-06. PMID:30944381. |
gaucher disease is caused by mutations in gba1 encoding acid β-glucosidase (gcase). |
2020-10-06 |
2023-08-13 |
mouse |
| Mario de la Mata, David Cotán, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M Suárez-Rivero, Gustavo Tiscornia, Manuel Oropesa-Ávil. Mitochondrial Dysfunction in Lysosomal Storage Disorders. Diseases (Basel, Switzerland). vol 4. issue 4. 2020-10-01. PMID:28933411. |
gaucher disease (gd), the lsd with the highest prevalence, is caused by mutations in the gba1 gene that results in defective and insufficient activity of the enzyme β-glucocerebrosidase (gcase). |
2020-10-01 |
2023-08-13 |
mouse |
| Tamar Farfel-Becker, Jenny Do, Nahid Tayebi, Ellen Sidransk. Can GBA1-Associated Parkinson Disease Be Modeled in the Mouse? Trends in neurosciences. vol 42. issue 9. 2020-09-23. PMID:31288942. |
homozygous and heterozygous mutations in gba1, the gene implicated in gaucher disease, increase the risk and severity of parkinson disease (pd). |
2020-09-23 |
2023-08-13 |
mouse |
| Lindsey T Lelieveld, Mina Mirzaian, Chi-Lin Kuo, Marta Artola, Maria J Ferraz, Remco E A Peter, Hisako Akiyama, Peter Greimel, Richard J B H N van den Berg, Herman S Overkleeft, Rolf G Boot, Annemarie H Meijer, Johannes M F G Aert. Role of β-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish. Journal of lipid research. vol 60. issue 11. 2020-09-09. PMID:31562193. |
lysosomal gba1 and cytosol-facing gba2 degrade glucosylceramide (glccer); gba1 deficiency causes gaucher disease, a lysosomal storage disorder characterized by lysosomal accumulation of glccer, which is partly converted to glucosylsphingosine (glcsph). |
2020-09-09 |
2023-08-13 |
zebrafish |