| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Chung-Hsing Wang, Yu-Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh-Chen Huang, Yin-Hsiu Chien, Ni-Chung Lee, Pen-Hua Su, Fuu-Jen Tsa. GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease. Orphanet journal of rare diseases. vol 19. issue 1. 2024-04-04. PMID:38575988. |
gba1 as a risk gene for osteoporosis in the specific populations and its role in the development of gaucher disease. |
2024-04-04 |
2024-04-07 |
Not clear |
| Chung-Hsing Wang, Yu-Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh-Chen Huang, Yin-Hsiu Chien, Ni-Chung Lee, Pen-Hua Su, Fuu-Jen Tsa. GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease. Orphanet journal of rare diseases. vol 19. issue 1. 2024-04-04. PMID:38575988. |
gaucher disease (gd) is caused by glucocerebrosidase (gba1) deficiency, leading to skeletal complications. |
2024-04-04 |
2024-04-07 |
Not clear |
| Jian-Hui Zhang, Hui Chen, Dan-Dan Ruan, Ying Chen, Li Zhang, Mei-Zhu Gao, Qian Chen, Hong-Ping Yu, Jia-Yi Wu, Xin-Fu Lin, Zhu-Ting Fang, Xiao-Ling Zheng, Jie-Wei Luo, Li-Sheng Liao, Hong L. Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report. Annals of hematology. 2024-03-21. PMID:38509388. |
adult type i gaucher disease with splenectomy caused by a compound heterozygous gba1 mutation in a chinese patient: a case report. |
2024-03-21 |
2024-03-23 |
Not clear |
| Jian-Hui Zhang, Hui Chen, Dan-Dan Ruan, Ying Chen, Li Zhang, Mei-Zhu Gao, Qian Chen, Hong-Ping Yu, Jia-Yi Wu, Xin-Fu Lin, Zhu-Ting Fang, Xiao-Ling Zheng, Jie-Wei Luo, Li-Sheng Liao, Hong L. Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report. Annals of hematology. 2024-03-21. PMID:38509388. |
gaucher disease (gd) is an autosomal recessive ailment resulting from glucocerebrosidase deficiency caused by a mutation in the gba1 gene, leading to multi-organ problems in the liver, spleen, and bone marrow. |
2024-03-21 |
2024-03-23 |
Not clear |
| Ilaria Gregorio, Loris Russo, Enrica Torretta, Pietro Barbacini, Gabriella Contarini, Giada Pacinelli, Dario Bizzotto, Manuela Moriggi, Paola Braghetta, Francesco Papaleo, Cecilia Gelfi, Enrico Moro, Matilde Cesco. GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice. Molecular neurodegeneration. vol 19. issue 1. 2024-03-08. PMID:38454456. |
mutations in the β-glucocerebrosidase (gba1) gene do cause the lysosomal storage gaucher disease (gd) and are among the most frequent genetic risk factors for parkinson's disease (pd). |
2024-03-08 |
2024-03-10 |
mouse |
| Myung Jong Kim, Soojin Kim, Thomas Reinheckel, Dimitri Krain. Inhibition of cysteine protease cathepsin Lincreases the level and activity of lysosomal glucocerebrosidase. JCI insight. vol 9. issue 3. 2024-02-08. PMID:38329128. |
homozygous or compound heterozygous gba1 mutations cause the lysosomal storage disease gaucher disease (gd) due to severe loss of gcase activity. |
2024-02-08 |
2024-02-10 |
mouse |
| Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calama. Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction. Molecules (Basel, Switzerland). vol 29. issue 2. 2024-01-23. PMID:38257371. |
gaucher disease (gd) is a rare genetic metabolic disorder characterized by a dysfunction of the lysosomal glycoside hydrolase glucocerebrosidase (gcase) due to mutations in the gene gba1, leading to the cellular accumulation of glucosylceramide (glccer). |
2024-01-23 |
2024-01-25 |
Not clear |
| Magda L Atilano, Alexander Hull, Catalina-Andreea Romila, Mirjam L Adams, Jacob Wildfire, Enric Ureña, Miranda Dyson, Jorge Ivan-Castillo-Quan, Linda Partridge, Kerri J Kinghor. Autophagic dysfunction and gut microbiota dysbiosis cause chronic immune activation in a Drosophila model of Gaucher disease. PLoS genetics. vol 19. issue 12. 2023-12-21. PMID:38127816. |
mutations in the gba1 gene cause the lysosomal storage disorder gaucher disease (gd) and are the greatest known genetic risk factors for parkinson's disease (pd). |
2023-12-21 |
2023-12-24 |
drosophila_melanogaster |
| Shani Blumenreich, Doreen Padan Ben-Yashar, Tali Shalit, Meital Kupervaser, Ivan Milenkovic, Tammar Joseph, Anthony H Futerma. Proteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1. Journal of neurochemistry. 2023-12-10. PMID:38071490. |
gaucher disease (gd) is a lysosomal storage disorder (lsd) caused by the defective activity of acid β-glucosidase (gcase) which results from mutations in gba1. |
2023-12-10 |
2023-12-17 |
mouse |
| Asuka Hamamoto, Natsuki Kita, Siddabasave Gowda B Gowda, Hiroyuki Takatsu, Kazuhisa Nakayama, Makoto Arita, Shu-Ping Hui, Hye-Won Shi. Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease. Cell structure and function. 2023-12-10. PMID:38072450. |
gaucher disease (gd) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (gba1). |
2023-12-10 |
2023-12-17 |
Not clear |
| Kitsada Kangboonruang, Tanapat Pornsukjantra, Pirut Tong-Ngam, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas, Kanit Bhukhai, Alisa Tubsuwa. Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease. Stem cell research. vol 73. 2023-12-07. PMID:37890332. |
establishment of mui030-a: a human induced pluripotent stem cell line carrying homozygous l444p mutation in the gba1 gene to study type-3 gaucher disease. |
2023-12-07 |
2023-12-17 |
human |
| Kitsada Kangboonruang, Tanapat Pornsukjantra, Pirut Tong-Ngam, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas, Kanit Bhukhai, Alisa Tubsuwa. Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease. Stem cell research. vol 73. 2023-12-07. PMID:37890332. |
gaucher disease (gd) is a common lysosomal storage disease resulting from mutations in the glucocerebrosidase (gba1) gene. |
2023-12-07 |
2023-12-17 |
human |
| Kunitoshi Takeda, Toru Watanabe, James R Smith, David Vesey, Nathalie Tiberghien, Sian Lewis, Ben Powney, Anthony H V Schapira, Tamaki Hoshikawa, Andrew K Takl. Identification of novel glucocerebrosidase chaperones by unexpected skeletal rearrangement reaction. Bioorganic & medicinal chemistry letters. vol 96. 2023-11-05. PMID:37866711. |
compound 5 was identified from a high-throughput screening campaign as a small molecule pharmacological chaperone of glucocerebrocidase (gcase), a lysosomal hydrolase encoded by the gba1 gene, variants of which are associated with gaucher disease and parkinson's disease. |
2023-11-05 |
2023-11-08 |
Not clear |
| Marco Toffoli, Harneek Chohan, Stephen Mullin, Aaron Jesuthasan, Selen Yalkic, Sofia Koletsi, Elisa Menozzi, Soraya Rahall, Naomi Limbachiya, Nadine Loefflad, Abigail Higgins, Jonathan Bestwick, Sara Lucas-Del-Pozo, Federico Fierli, Audrey Farbos, Roxana Mezabrovschi, Chiao Lee-Yin, Anette Schrag, David Moreno-Martinez, Derralynn Hughes, Alastair Noyce, Kevin Colclough, Aaron R Jeffries, Christos Proukakis, Anthony H V Schapir. Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study. Neurobiology of disease. 2023-11-05. PMID:37926171. |
variants in the gba1 gene cause the lysosomal storage disorder gaucher disease (gd). |
2023-11-05 |
2023-11-08 |
Not clear |
| Wen-Li Lu, Yin-Hsiu Chien, Fuu-Jen Tsai, Wuh-Liang Hwu, Yen-Yin Chou, Shao-Yin Chu, Meng-Ju Li, An-Ju Lee, Chao-Chuan Liao, Chung-Hsing Wang, Ni-Chung Le. Changing clinical manifestations of Gaucher disease in Taiwan. Orphanet journal of rare diseases. vol 18. issue 1. 2023-09-15. PMID:37715271. |
gaucher disease (gd) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the gba1 gene. |
2023-09-15 |
2023-10-07 |
Not clear |
| Dishary Banerjee, Margarita M Ivanova, Nazmiye T Celik, Myoung Hwan Kim, Irem Deniz Derman, Renuka Pudi Limgala, Ibrahim T Ozbolat, Ozlem Goker-Alpa. Biofabrication of an in-vitro bone model for Gaucher disease. Biofabrication. 2023-09-13. PMID:37703870. |
gaucher disease (gd), the most prevalent lysosomal disorder, is caused by gba1 gene mutations, leading to deficiency of glucocerebrosidase, and accumulation of glycosphingolipids in cells of the mononuclear phagocyte system. |
2023-09-13 |
2023-10-07 |
human |
| Emory Ryan, Nahid Tayebi, Andrea D'Souza, Grisel Lopez, Jens Lichtenberg, Ellen Sidransk. Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants. American journal of medical genetics. Part A. 2023-07-14. PMID:37449546. |
revisiting the diagnosis of gaucher disease in a family with multiple gba1 variants. |
2023-07-14 |
2023-08-14 |
Not clear |
| Emory Ryan, Nahid Tayebi, Andrea D'Souza, Grisel Lopez, Jens Lichtenberg, Ellen Sidransk. Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants. American journal of medical genetics. Part A. 2023-07-14. PMID:37449546. |
our ability to identify different variants in gba1, the gene mutated in the lysosomal storage disorder gaucher disease (gd), has greatly improved. |
2023-07-14 |
2023-08-14 |
Not clear |
| Yusuke Naito, Sou Sakamoto, Takuto Kojima, Misaki Homma, Maiko Tanaka, Hideki Matsu. Novel beta-Glucocerebrosidase Chaperone Compounds Identified from Cell-based Screening Reduce Pathologically Accumulated Glucosylsphingosine in iPS-derived Neuronal Cells. SLAS discovery : advancing life sciences R & D. 2023-06-27. PMID:37369311. |
biallelic loss-of-function mutations in gba1 such as l444p cause gaucher disease (gd), which is the most prevalent lysosomal storage disease and is histopathologically characterized by abnormal accumulation of the gcase substrates glccer and glcsph. |
2023-06-27 |
2023-08-14 |
Not clear |
| Ellen Hertz, Grisel Lopez, Jens Lichtenberg, Dietrich Hauenberger, Nahid Tayebi, Mark Hallett, Ellen Sidransk. Rapid-onset dystonia and parkinsonism in a patient with Gaucher disease. Journal of movement disorders. 2023-06-13. PMID:37309111. |
biallelic mutations in gba1 cause the lysosomal storage disorder gaucher disease and even carriers of gba1 variants have an increased risk of parkinson disease (pd). |
2023-06-13 |
2023-08-14 |
Not clear |