All Relations between Gaucher Disease and gba1

Publication Sentence Publish Date Extraction Date Species
Adenrele M Gleason, Andrea D'Souza, Emory Ryan, Angela R Grochowsky, Camille R Carter, Ozlem Goker-Alpan, Grisel Lopez, Nahid Tayebi, Ellen Sidransk. The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era. American journal of medical genetics. Part A. 2023-04-12. PMID:37042183. gaucher disease (gd) is an autosomal recessive disorder resulting from glucocerebrosidase deficiency due to pathologic variants in gba1. 2023-04-12 2023-08-14 Not clear
Yuzhao Liu, Xiangli Zhao, Jinlong Jian, Sadaf Hasan, Chuanju Li. Interaction with ERp57 is required for progranulin protection against Type 2 Gaucher disease. Bioscience trends. 2023-03-08. PMID:36889696. gaucher disease (gd), one of the most common lysosomal storage diseases, is caused by gba1 mutations resulting in defective glucocerebrosidase (gcase) and consequent accumulation of its substrates β-glucosylceramide (β-glccer). 2023-03-08 2023-08-14 Not clear
Cornelis Blauwendraat, Nahid Tayebi, Elizabeth Geena Woo, Grisel Lopez, Luca Fierro, Marco Toffoli, Naomi Limbachiya, Derralynn Hughes, Vanessa Pitz, Dhairya Patel, Dan Vitale, Mathew J Koretsky, Dena Hernandez, Raquel Real, Roy N Alcalay, Mike A Nalls, Huw R Morris, Anthony H V Schapira, Manisha Balwani, Ellen Sidransk. Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease. Movement disorders : official journal of the Movement Disorder Society. 2023-03-03. PMID:36869417. biallelic pathogenic variants in gba1 are the cause of gaucher disease (gd) type 1 (gd1), a lysosomal storage disorder resulting from deficient glucocerebrosidase. 2023-03-03 2023-08-14 Not clear
Sarka Pokorna, Olga Khersonsky, Rosalie Lipsh-Sokolik, Adi Goldenzweig, Rebekka Nielsen, Yacov Ashani, Yoav Peleg, Tamar Unger, Shira Albeck, Orly Dym, Asa Tirosh, Rana Tarayra, Michaël Hocquemiller, Ralph Laufer, Shifra Ben-Dor, Israel Silman, Joel L Sussman, Sarel J Fleishman, Anthony H Futerma. Design of a stable human acid-β-glucosidase: towards improved Gaucher disease therapy and mutation classification. The FEBS journal. 2023-02-22. PMID:36808692. biallelic mutations in gba1 cause the human inherited metabolic disorder, gaucher disease (gd), in which glccer accumulates, while heterozygous gba1 mutations are the highest genetic risk factor for parkinson's disease (pd). 2023-02-22 2023-08-14 human
Manoj Kumar, Manasa P Srikanth, Michela Deleidi, Penelope J Hallett, Ole Isacson, Ricardo A Feldma. Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson's disease. Human molecular genetics. 2023-02-08. PMID:36752535. bi-allelic mutations in gba1, the gene that encodes β-glucocerebrosidase (gcase), cause gaucher disease (gd), whereas mono-allelic mutations do not cause overt pathology. 2023-02-08 2023-08-14 human
Leanne K Winner, Helen Beard, Litsa Karageorgos, Nicholas J Smith, John J Hopwood, Kim M Hemsle. The ovine Type II Gaucher disease model recapitulates aspects of human brain disease. Biochimica et biophysica acta. Molecular basis of disease. 2023-01-31. PMID:36720445. acute neuronopathic (type ii) gaucher disease (gd) is a devastating, untreatable neurological disorder resulting from mutations in the glucocerebrosidase gene (gba1), with subsequent accumulation of glucosylceramide and glucosylsphingosine. 2023-01-31 2023-08-14 mouse
Xiao-Ling Wen, Yao-Zi Wang, Xia-Lin Zhang, Jia-Qiang Tu, Zhi-Juan Zhang, Xia-Xia Liu, Hai-Yan Lu, Guo-Ping Hao, Xiao-Huan Wang, Lin-Hua Yang, Rui-Juan Zhan. Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report. World journal of clinical cases. vol 10. issue 36. 2023-01-23. PMID:36683633. compound heterozygous p.l483p and p.s310g mutations in gba1 cause type 1 adult gaucher disease: a case report. 2023-01-23 2023-08-14 Not clear
Tamaki Hoshikawa, Toru Watanabe, Makoto Kotake, Nathalie Tiberghien, Chi-Kit Woo, Sian Lewis, Thomas Briston, Mumta Koglin, James Staddon, Ben Powney, Anthony H V Schapira, Andrew Takl. Identification of pyrimidinyl piperazines as non-iminosugar glucocerebrosidase (GCase) pharmacological chaperones. Bioorganic & medicinal chemistry letters. 2023-01-14. PMID:36640928. glucocerebrosidase (gcase) is a lysosomal enzyme encoded by the gba1 gene, loss of function variants of which cause an autosomal recessive lysosomal storage disorder, gaucher disease (gd). 2023-01-14 2023-08-14 Not clear
Mahesh Venkatachari, Soumalya Chakraborty, Alec Reginald Errol Correa, Puneeta Mishra, Kanwal Preet Kocchar, Madhulika Kabra, Biswaroop Chakrabarty, Mani Kalaivani, Savita Sapra, Pallavi Mishra, Sheffali Gulati, Neerja Gupt. The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease. American journal of medical genetics. Part A. 2023-01-13. PMID:36637080. gaucher disease (gd), one of the most frequent autosomal recessive lysosomal storage disorders, occurs due to bi-allelic pathogenic variants in the gba1. 2023-01-13 2023-08-14 Not clear
Maria Domenica Cappellini, Irene Motta, Antonio Barbato, Gaetano Giuffrida, Raffaele Manna, Francesca Carubbi, Fiorina Gion. Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis. European journal of internal medicine. 2022-11-28. PMID:36443133. gaucher disease is the most common autosomal recessive lysosomal storage disorder due to mutations in the gba1 gene, resulting in the lysosomal deficiency of glucocerebrosidase activity. 2022-11-28 2023-08-14 Not clear
Hiroyuki Ida, Yuko Watanabe, Rieko Sagara, Yoichi Inoue, Jovelle Fernande. An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan. Orphanet journal of rare diseases. vol 17. issue 1. 2022-11-04. PMID:36329499. gaucher disease (gd) is an autosomal recessive disease caused by gba1 mutations resulting in glucosylceramide accumulation in macrophages. 2022-11-04 2023-08-14 Not clear
Zaid A M Al-Azzawi, Saman Arfaie, Ziv Gan-O. GBA1 and The Immune System: A Potential Role in Parkinson's Disease? Journal of Parkinson's disease. 2022-09-04. PMID:36057834. biallelic mutations in gba1 may cause gaucher disease, a lysosomal storage disorder with involvement of the immune system, and other lines of evidence link gba1 to the immune system and inflammation. 2022-09-04 2023-08-14 Not clear
Nevenka Ridova, Sanja Trajkova, Biljana Chonevska, Zlate Stojanoski, Martin Ivanovski, Marija Popova-Labachevska, Simona Stojanovska-Jakimovska, Venko Filipche, Aspazija Sofijanova, Irina Panovska-Stavridi. Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression. Molecular genetics and metabolism reports. vol 32. 2022-07-18. PMID:35845720. gaucher disease in north macedonia: unexpected prevalence of the n370s gba1 allele with attenuated disease expression. 2022-07-18 2023-08-14 Not clear
Nevenka Ridova, Sanja Trajkova, Biljana Chonevska, Zlate Stojanoski, Martin Ivanovski, Marija Popova-Labachevska, Simona Stojanovska-Jakimovska, Venko Filipche, Aspazija Sofijanova, Irina Panovska-Stavridi. Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression. Molecular genetics and metabolism reports. vol 32. 2022-07-18. PMID:35845720. the majority of gaucher disease (gd) cases result from pathologic mutations in the gba1 gene. 2022-07-18 2023-08-14 Not clear
Mia Horowitz, Hila Braunstein, Ari Zimran, Shoshana Revel-Vilk, Ozlem Goker-Alpa. Lysosomal functions and dysfunctions: Molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease. Advanced drug delivery reviews. 2022-06-28. PMID:35764179. gaucher disease (gd), an autosomal recessive disorder and one of the most common lsds, is caused by the deficiency of the lysosomal enzyme glucocerebrosidase (gcase), due to biallelic mutations in the gba1 gene. 2022-06-28 2023-08-14 Not clear
Lindsey T Lelieveld, Sophie Gerhardt, Saskia Maas, Kimberley C Zwiers, Claire de Wit, Ernst H Beijk, Maria J Ferraz, Marta Artola, Annemarie H Meijer, Christian Tudorache, Daniela Salvatori, Rolf G Boot, Johannes M F G Aert. Consequences of excessive glucosylsphingosine in glucocerebrosidase-deficient zebrafish. Journal of lipid research. 2022-03-22. PMID:35315333. in gaucher disease (gd), the deficiency of glucocerebrosidase (gcase/ gba1) causes lysosomal accumulation of glucosylceramide (glccer), which is partly converted by acid ceramidase (acase) to glucosylsphingosine (glcsph) in the lysosome. 2022-03-22 2023-08-13 zebrafish
Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanuma. A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene. Stem cell research. vol 60. 2022-02-12. PMID:35151019. a generation of human induced pluripotent stem cell line (mui031-a) from a type-3 gaucher disease patient carrying homozygous mutation on gba1 gene. 2022-02-12 2023-08-13 human
Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanuma. A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene. Stem cell research. vol 60. 2022-02-12. PMID:35151019. gaucher disease (gd) is one of the most prevalent lysosomal storage diseases caused by mutation of glucocerebrosidase (gba1) gene. 2022-02-12 2023-08-13 human
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