Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder
Gaucher disease (GD) is a metabolic disorder caused by mutations in the GBA1, located on 1q22. This gene encodes glucocerebrosidase (glucosylceramidase) enzyme. GD has a wide range of clinical manifestations from a perinatally lethal type to an asymptomatic form. While different types of targeted th...
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Elsevier
2024-12-01
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| Series: | Biochemistry and Biophysics Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S240558082400236X |
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| author | Mehran Reyhani-Ardabili Mohadeseh Fathi Soudeh Ghafouri-Fard |
| author_facet | Mehran Reyhani-Ardabili Mohadeseh Fathi Soudeh Ghafouri-Fard |
| author_sort | Mehran Reyhani-Ardabili |
| collection | DOAJ |
| description | Gaucher disease (GD) is a metabolic disorder caused by mutations in the GBA1, located on 1q22. This gene encodes glucocerebrosidase (glucosylceramidase) enzyme. GD has a wide range of clinical manifestations from a perinatally lethal type to an asymptomatic form. While different types of targeted therapies and hematopoietic stem cell transplantation have been suggested as therapeutic options for patients with GD, success rates were not optimal. Recent advance in the CRISPR technology has raised the hope for treatment of metabolic disorders such as GD. This technology has also facilitated identification of the molecular mechanisms underlying pathologic events in this disorder. The current review addresses both mentioned aspects of application of CRISPR technology in the field of GD. |
| format | Article |
| id | doaj-art-b92f11cb75084d8e833919b789fbbc92 |
| institution | OA Journals |
| issn | 2405-5808 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Biochemistry and Biophysics Reports |
| spelling | doaj-art-b92f11cb75084d8e833919b789fbbc922025-08-20T02:19:51ZengElsevierBiochemistry and Biophysics Reports2405-58082024-12-014010187210.1016/j.bbrep.2024.101872Application of CRISPR/Cas9 technology in the modeling of Gaucher disorderMehran Reyhani-Ardabili0Mohadeseh Fathi1Soudeh Ghafouri-Fard2Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, IranCorresponding author.; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, IranGaucher disease (GD) is a metabolic disorder caused by mutations in the GBA1, located on 1q22. This gene encodes glucocerebrosidase (glucosylceramidase) enzyme. GD has a wide range of clinical manifestations from a perinatally lethal type to an asymptomatic form. While different types of targeted therapies and hematopoietic stem cell transplantation have been suggested as therapeutic options for patients with GD, success rates were not optimal. Recent advance in the CRISPR technology has raised the hope for treatment of metabolic disorders such as GD. This technology has also facilitated identification of the molecular mechanisms underlying pathologic events in this disorder. The current review addresses both mentioned aspects of application of CRISPR technology in the field of GD.http://www.sciencedirect.com/science/article/pii/S240558082400236XGaucher disease (GD)GBA1CRISPR |
| spellingShingle | Mehran Reyhani-Ardabili Mohadeseh Fathi Soudeh Ghafouri-Fard Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder Biochemistry and Biophysics Reports Gaucher disease (GD) GBA1 CRISPR |
| title | Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder |
| title_full | Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder |
| title_fullStr | Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder |
| title_full_unstemmed | Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder |
| title_short | Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder |
| title_sort | application of crispr cas9 technology in the modeling of gaucher disorder |
| topic | Gaucher disease (GD) GBA1 CRISPR |
| url | http://www.sciencedirect.com/science/article/pii/S240558082400236X |
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