| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Grisel Lopez, Daniel P Eisenberg, Michael D Gregory, Angela M Ianni, Shannon E Grogans, Joseph C Masdeu, Jenny Kim, Catherine Groden, Ellen Sidransky, Karen F Berma. Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations. Annals of neurology. vol 87. issue 4. 2020-07-27. PMID:32030791. |
mutations in gba1, the gene mutated in gaucher disease, are a common genetic risk factor for parkinson disease, although the penetrance is low. |
2020-07-27 |
2023-08-13 |
human |
| Ana Joana Duarte, Diogo Ribeiro, Renato Santos, Luciana Moreira, José Bragança, Olga Amara. Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene. Stem cell research. vol 41. 2020-07-01. PMID:31678773. |
induced pluripotent stem cell line (insai001-a) from a gaucher disease type 3 patient compound heterozygote for mutations in the gba1 gene. |
2020-07-01 |
2023-08-13 |
Not clear |
| Jenny Do, Cindy McKinney, Pankaj Sharma, Ellen Sidransk. Glucocerebrosidase and its relevance to Parkinson disease. Molecular neurodegeneration. vol 14. issue 1. 2020-06-23. PMID:31464647. |
a great deal is known about gba1, as mutations in gba1 are causal for the rare autosomal storage disorder gaucher disease. |
2020-06-23 |
2023-08-13 |
mouse |
| Yanyan Peng, Benjamin Liou, Venette Inskeep, Rachel Blackwood, Christopher N Mayhew, Gregory A Grabowski, Ying Su. Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease. Human molecular genetics. vol 28. issue 20. 2020-05-18. PMID:31373366. |
gaucher disease (gd) is caused by gba1 mutations leading to functional deficiency of acid-β-glucosidase (gcase). |
2020-05-18 |
2023-08-13 |
mouse |
| Emory Ryan, Gurpreet Seehra, Pankaj Sharma, Ellen Sidransk. GBA1-associated parkinsonism: new insights and therapeutic opportunities. Current opinion in neurology. vol 32. issue 4. 2020-04-20. PMID:31188151. |
gba1 mutations, which result in the lysosomal disorder gaucher disease, are the most common known genetic risk factor for parkinson disease and dementia with lewy bodies (dlb). |
2020-04-20 |
2023-08-13 |
Not clear |
| Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwart. Assessment of cellular cobalamin metabolism in Gaucher disease. BMC medical genetics. vol 21. issue 1. 2020-03-03. PMID:31931749. |
gaucher disease (gd) is a lysosomal disorder caused by biallelic pathogenic mutations in the gba1 gene that encodes beta-glucosidase (gcase), and more rarely, by a deficiency in the gcase activator, saposin c. clinically, gd manifests with heterogeneous multiorgan involvement mainly affecting hematological, hepatic and neurological axes. |
2020-03-03 |
2023-08-13 |
Not clear |
| Klaus Harzer, Yildiz Yildiz, Stefanie Beck-Wöd. Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue. Biological chemistry. vol 400. issue 6. 2020-02-17. PMID:30864417. |
gba2 was proposed as a modifier of gaucher disease, a lysosomal storage disease resulting from deficient β-glucosidase 1; gba1. |
2020-02-17 |
2023-08-13 |
human |
| Matheus V M B Wilke, Alícia D Dornelles, Artur S Schuh, Filippo P Vairo, Suelen P Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B Piltcher, Ida V D Schwart. Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1. Orphanet journal of rare diseases. vol 14. issue 1. 2019-11-25. PMID:31077260. |
gaucher disease (gd) is caused by deficiency of beta-glucocerebrosidase (gcase) due to biallelic variations in the gba1 gene. |
2019-11-25 |
2023-08-13 |
Not clear |
| Areian Eghbali, Shahzeb Hassan, Gurpreet Seehra, Edmond FitzGibbon, Ellen Sidransk. Ophthalmological findings in Gaucher disease. Molecular genetics and metabolism. vol 127. issue 1. 2019-11-15. PMID:31047801. |
gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene gba1, which encodes the lysosomal protein glucocerebrosidase. |
2019-11-15 |
2023-08-13 |
Not clear |
| Brad A Davidson, Shahzeb Hassan, Eric Joshua Garcia, Nahid Tayebi, Ellen Sidransk. Exploring genetic modifiers of Gaucher disease: The next horizon. Human mutation. vol 39. issue 12. 2019-10-07. PMID:30098107. |
gaucher disease is an autosomal recessive lysosomal storage disorder resulting from mutations in the gene gba1 that lead to a deficiency in the enzyme glucocerebrosidase. |
2019-10-07 |
2023-08-13 |
Not clear |
| Brad A Davidson, Shahzeb Hassan, Eric Joshua Garcia, Nahid Tayebi, Ellen Sidransk. Exploring genetic modifiers of Gaucher disease: The next horizon. Human mutation. vol 39. issue 12. 2019-10-07. PMID:30098107. |
in addition, we provide examples of candidate modifiers of gaucher disease, explore their relevance in the development of potential therapeutics, and discuss the impact of gba1 and modifying mutations on other more common diseases like parkinson disease. |
2019-10-07 |
2023-08-13 |
Not clear |
| Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Shet. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC medical genetics. vol 20. issue 1. 2019-08-20. PMID:30764785. |
gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-glucosidase (gba1) gene defect. |
2019-08-20 |
2023-08-13 |
Not clear |
| Shahzeb Hassan, Grisel Lopez, Barbara K Stubblefield, Nahid Tayebi, Ellen Sidransk. Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease. Molecular genetics and metabolism. vol 125. issue 1-2. 2019-04-26. PMID:29980418. |
focusing on gaucher disease, which results from mutations in gba1, we found that more comprehensive genotyping revealed important exceptions. |
2019-04-26 |
2023-08-13 |
Not clear |
| Rick Hamler, Nastry Brignol, Sean W Clark, Sean Morrison, Leo B Dungan, Hui H Chang, Richie Khanna, Michelle Frascella, Kenneth J Valenzano, Elfrida R Benjamin, Robert E Boy. Glucosylceramide and Glucosylsphingosine Quantitation by Liquid Chromatography-Tandem Mass Spectrometry to Enable In Vivo Preclinical Studies of Neuronopathic Gaucher Disease. Analytical chemistry. vol 89. issue 16. 2019-03-28. PMID:28686011. |
gaucher disease (gd) is caused by mutations in the gba1 gene that encodes the lysosomal enzyme acid β-glucosidase (gcase). |
2019-03-28 |
2023-08-13 |
mouse |
| Matthew C Reed, Capucine Schiffer, Simon Heales, Atul B Mehta, Derralynn A Hughe. Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease. Molecular genetics and metabolism. vol 124. issue 4. 2019-03-18. PMID:29934064. |
gaucher disease (gd) is an inherited disorder in which mutations in the gba1 gene lead to deficient β-glucocerebrosidase activity and accumulation of its substrate glucosylceramide. |
2019-03-18 |
2023-08-13 |
human |
| Leelamma M Panicker, Manasa P Srikanth, Thiago Castro-Gomes, Diana Miller, Norma W Andrews, Ricardo A Feldma. Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition. Human molecular genetics. vol 27. issue 5. 2019-01-04. PMID:29301038. |
gaucher disease (gd) is caused by bi-allelic mutations in gba1, the gene that encodes acid β-glucocerebrosidase (gcase). |
2019-01-04 |
2023-08-13 |
human |
| Wujuan Zhang, Melissa Oehrle, Carlos E Prada, Ida Vanessa D Schwartz, Somchai Chutipongtanate, Duangrurdee Wattanasirichaigoon, Venette Inskeep, Mei Dai, Dao Pan, Ying Sun, Kenneth D R Setchel. A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response. The Analyst. vol 142. issue 18. 2018-12-11. PMID:28812093. |
gaucher disease (gd) is caused by mutations on the gba1 gene leading to deficiency in acid β-glucosidase (gcase) and subsequent accumulation of its substrates, glucosylceramide (glcc) and glucosylsphingosine (glcs). |
2018-12-11 |
2023-08-13 |
mouse |
| 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 |