| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Heinz G Körschen, Yildiz Yildiz, Diana Nancy Raju, Sophie Schonauer, Wolfgang Bönigk, Vera Jansen, Elisabeth Kremmer, U Benjamin Kaupp, Dagmar Wachte. The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi. The Journal of biological chemistry. vol 288. issue 5. 2013-03-28. PMID:23250757. |
mutations in the lysosomal gba1 underlie gaucher disease, the most common lysosomal storage disease in humans. |
2013-03-28 |
2023-08-12 |
mouse |
| Heinz G Körschen, Yildiz Yildiz, Diana Nancy Raju, Sophie Schonauer, Wolfgang Bönigk, Vera Jansen, Elisabeth Kremmer, U Benjamin Kaupp, Dagmar Wachte. The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi. The Journal of biological chemistry. vol 288. issue 5. 2013-03-28. PMID:23250757. |
furthermore, our results suggest that gba2 might affect the phenotype of gaucher disease, because gba2 activity is reduced in gba1 knock-out fibroblasts and fibroblasts from a gaucher patient. |
2013-03-28 |
2023-08-12 |
mouse |
| Maciej Machaczka, Martin Paucar Arce, Malgorzata Rucinska, Takashi Yoshitake, Jan Kehr, Wojciech Jurczak, Aleksander B Skotnicki, Jan-Erik Månsson, Anna Tylki-Szymanska, Per Svenningsso. A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease. JIMD reports. vol 3. 2013-02-25. PMID:23430873. |
mutations in the glucocerebrosidase gene (gba1) cause gaucher disease (gd) and are the most common genetic risk factor for the development of parkinson's disease (pd). |
2013-02-25 |
2023-08-12 |
Not clear |
| Gholamreza Babajani, Michael B Tropak, Don J Mahuran, Allison R Kermod. Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant. Molecular genetics and metabolism. vol 106. issue 3. 2012-10-19. PMID:22592100. |
gaucher disease is a prevalent lysosomal storage disease in which affected individuals inherit mutations in the gene (gba1) encoding lysosomal acid β-glucosidase (glucocerebrosidase, gcase, ec 3.2.1.45). |
2012-10-19 |
2023-08-12 |
human |
| Manoj Kumar Pandey, Reena Rani, Wujuan Zhang, Kenneth Setchell, Gregory A Grabowsk. Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease. Molecular genetics and metabolism. vol 106. issue 3. 2012-10-19. PMID:22595426. |
increases in several such populations were identified in a gba1 mouse model (d409v/null; 9v/null) of gaucher disease including antigen presenting cells (apcs), i.e., mϕ, dendritic cells (dcs), neutrophils (pmns), and cd4(+) t cells. |
2012-10-19 |
2023-08-12 |
mouse |
| Tony Yuen, Jameel Iqbal, Ling-Ling Zhu, Li Sun, Aiping Lin, Hongyu Zhao, Jun Liu, Pramod K Mistry, Mone Zaid. Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice. Biochemical and biophysical research communications. vol 422. issue 4. 2012-09-06. PMID:22588172. |
disease-drug pairs revealed by computational genomic connectivity mapping on gba1 deficient, gaucher disease mice. |
2012-09-06 |
2023-08-12 |
mouse |
| Tony Yuen, Jameel Iqbal, Ling-Ling Zhu, Li Sun, Aiping Lin, Hongyu Zhao, Jun Liu, Pramod K Mistry, Mone Zaid. Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice. Biochemical and biophysical research communications. vol 422. issue 4. 2012-09-06. PMID:22588172. |
we have reported that, in addition to recapitulating the classical human gaucher disease (gd1) phenotype, deletion of the glucocerebrosidase (gba1) gene in mice results in the dysfunction of a diverse population of immune cells. |
2012-09-06 |
2023-08-12 |
mouse |
| S Pablo Sardi, Priyanka Singh, Seng H Cheng, Lamya S Shihabuddin, Michael G Schlossmache. Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models. Neuro-degenerative diseases. vol 10. issue 1-4. 2012-08-29. PMID:22327140. |
homozygous gba1 mutations lead to reduced gba1 lysosomal activity underlying three variants of gaucher disease (gd). |
2012-08-29 |
2023-08-12 |
mouse |
| Xu He, Jason D Galpin, Michael B Tropak, Don Mahuran, Thomas Haselhorst, Mark von Itzstein, Daniel Kolarich, Nicolle H Packer, Yansong Miao, Liwen Jiang, Gregory A Grabowski, Lorne A Clarke, Allison R Kermod. Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants. Glycobiology. vol 22. issue 4. 2012-06-22. PMID:22061999. |
gaucher disease is a prevalent lysosomal storage disease in which affected individuals inherit mutations in the gene (gba1) encoding gcase. |
2012-06-22 |
2023-08-12 |
mouse |
| Clarence K Zhang, Philip B Stein, Jun Liu, Zuoheng Wang, Ruhua Yang, Judy H Cho, Peter K Gregersen, Johannes M F G Aerts, Hongyu Zhao, Gregory M Pastores, Pramod K Mistr. Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. American journal of hematology. vol 87. issue 4. 2012-05-29. PMID:22388998. |
mutations in gba1 gene result in defective acid β-glucosidase and the complex phenotype of gaucher disease (gd) related to the accumulation of glucosylceramide-laden macrophages. |
2012-05-29 |
2023-08-12 |
Not clear |
| S Pablo Sardi, Jennifer Clarke, Cathrine Kinnecom, Thomas J Tamsett, Lingyun Li, Lisa M Stanek, Marco A Passini, Gregory A Grabowski, Michael G Schlossmacher, Richard L Sidman, Seng H Cheng, Lamya S Shihabuddi. CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proceedings of the National Academy of Sciences of the United States of America. vol 108. issue 29. 2011-10-03. PMID:21730160. |
here, we provide evidence that a mouse model of gaucher disease (gba1(d409v/d409v)) exhibits characteristics of synucleinopathies, including progressive accumulation of proteinase k-resistant α-synuclein/ubiquitin aggregates in hippocampal neurons and a coincident memory deficit. |
2011-10-03 |
2023-08-12 |
mouse |
| Valerie Cullen, S Pablo Sardi, Juliana Ng, You-Hai Xu, Ying Sun, Julianna J Tomlinson, Piotr Kolodziej, Ilana Kahn, Paul Saftig, John Woulfe, Jean-Christophe Rochet, Marcie A Glicksman, Seng H Cheng, Gregory A Grabowski, Lamya S Shihabuddin, Michael G Schlossmache. Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Annals of neurology. vol 69. issue 6. 2011-08-22. PMID:21472771. |
a loss in lysosomal acid-β-glucosidase enzyme (gcase) activity due to biallelic gba1 mutations underlies gaucher disease. |
2011-08-22 |
2023-08-12 |
Not clear |
| Pramod K Mistry, Neal J Weinreb, Paige Kaplan, J Alexander Cole, Andrea R Gwosdow, Thomas Hangartne. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood cells, molecules & diseases. vol 46. issue 1. 2011-06-08. PMID:21112800. |
in gaucher disease (gd), acid-β-glucosidase (gba1) gene mutations result in defective glucocerebrosidase and variable combinations of hematological, visceral, and diverse bone disease. |
2011-06-08 |
2023-08-12 |
Not clear |
| Maciej Machaczka, Monika Klimkowska, Sofie Regenthal, Hans Hägglun. Gaucher disease with foamy transformed macrophages and erythrophagocytic activity. Journal of inherited metabolic disease. vol 34. issue 1. 2011-05-12. PMID:21113739. |
here, we describe the case of an adult non-jewish caucasian male with a heterozygous gaucher disease type 1 (mutations c.1226a>g and c.1448t>c in the gba1 gene) who presented with atypical morphology of gc on bone marrow examination. |
2011-05-12 |
2023-08-12 |
Not clear |
| Timothy M Co. Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. Current opinion in investigational drugs (London, England : 2000). vol 11. issue 10. 2011-03-14. PMID:20872320. |
gaucher disease is an inherited defect of lysosomal functions caused by mutations in the gba1 gene leading to accumulation of glucocerebroside, primarily in macrophages. |
2011-03-14 |
2023-08-12 |
mouse |
| Pramod K Mistry, Jun Liu, Mei Yang, Timothy Nottoli, James McGrath, Dhanpat Jain, Kate Zhang, Joan Keutzer, Wei-Lien Chuang, Wei-Lein Chuang, Wajahat Z Mehal, Hongyu Zhao, Aiping Lin, Shrikant Mane, Xuan Liu, Yuan Z Peng, Jian H Li, Manasi Agrawal, Ling-Ling Zhu, Harry C Blair, Lisa J Robinson, Jameel Iqbal, Li Sun, Mone Zaid. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proceedings of the National Academy of Sciences of the United States of America. vol 107. issue 45. 2010-12-30. PMID:20962279. |
in nonneuronopathic type 1 gaucher disease (gd1), mutations in the glucocerebrosidase gene (gba1) gene result in glucocerebrosidase deficiency and the accumulation of its substrate, glucocerebroside (gl-1), in the lysosomes of mononuclear phagocytes. |
2010-12-30 |
2023-08-12 |
mouse |
| Gilberto Bultron, Katherine Kacena, Daniel Pearson, Michael Boxer, Ruhua Yang, Swati Sathe, Gregory Pastores, Pramod K Mistr. The risk of Parkinson's disease in type 1 Gaucher disease. Journal of inherited metabolic disease. vol 33. issue 2. 2010-07-21. PMID:20177787. |
in gaucher disease, defective lysosomal glucocerebrosidase due to mutations in the gba1 gene results in lysosomal accumulation of glucocerebroside in mononuclear phagocytes and a multisystemic phenotype. |
2010-07-21 |
2023-08-12 |
Not clear |
| Gilberto Bultron, Katherine Kacena, Daniel Pearson, Michael Boxer, Ruhua Yang, Swati Sathe, Gregory Pastores, Pramod K Mistr. The risk of Parkinson's disease in type 1 Gaucher disease. Journal of inherited metabolic disease. vol 33. issue 2. 2010-07-21. PMID:20177787. |
observations of occurrence of parkinson's disease in some patients with non-neuronopathic type 1 gaucher disease (gd1) and their first degree relatives has led to the identification of gba1 heterozygous mutations as a genetic risk factor for idiopathic parkinson's disease (pd). |
2010-07-21 |
2023-08-12 |
Not clear |
| Sarah M Lo, Philip Stein, Sean Mullaly, Michael Bar, Dhanpat Jain, Gregory M Pastores, Pramod K Mistr. Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype. American journal of hematology. vol 85. issue 5. 2010-05-24. PMID:20425796. |
in gaucher disease (gd), inherited deficiency of lysosomal glucocerebrosidase due to mutations in gba1 gene results in accumulation of glucosylceramide in tissue macrophages, systemic macrophage activation, and a complex multisystemic phenotype. |
2010-05-24 |
2023-08-12 |
Not clear |