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Relevant bibliographies by topics / CRISPR-Cas9, genome editing, CDKL deficiency disorder

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Journal articles
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Academic literature on the topic 'CRISPR-Cas9, genome editing, CDKL deficiency disorder'

Author: Grafiati

Published: 14 March 2023

Last updated: 31 July 2025

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Journal articles on the topic "CRISPR-Cas9, genome editing, CDKL deficiency disorder"

1

Wang, Lili, Yang Yang, Camilo Breton, et al. "A mutation-independent CRISPR-Cas9–mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency." Science Advances 6, no. 7 (2020): eaax5701. http://dx.doi.org/10.1126/sciadv.aax5701.

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Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle disorder associated with high mortality. Although a promising treatment for late-onset OTC deficiency, adeno-associated virus (AAV) neonatal gene therapy would only provide short-term therapeutic effects as the non-integrated genome gets lost during hepatocyte proliferation. CRISPR-Cas9-mediated homology-directed repair can correct a G-to-A mutation in 10% of OTC alleles in the livers of newborn OTC spfash mice. However, an editing vector able to correct one mutation would not be applicable for patients carrying different OT

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Pereira, Ester M., Anatália Labilloy, Megan L. Eshbach, et al. "Characterization and phosphoproteomic analysis of a human immortalized podocyte model of Fabry disease generated using CRISPR/Cas9 technology." American Journal of Physiology-Renal Physiology 311, no. 5 (2016): F1015—F1024. http://dx.doi.org/10.1152/ajprenal.00283.2016.

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Fabry nephropathy is a major cause of morbidity and premature death in patients with Fabry disease (FD), a rare X-linked lysosomal storage disorder. Gb3, the main substrate of α-galactosidase A (α-Gal A), progressively accumulates within cells in a variety of tissues. Establishment of cell models has been useful as a tool for testing hypotheses of disease pathogenesis. We applied CRISPR/Cas9 genome editing technology to the GLA gene to develop human kidney cell models of FD in human immortalized podocytes, which are the main affected renal cell type. Our podocytes lack detectable α-Gal A activ

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Shin, Taehoon, Eun Jung Baek, Marcus A. F. Corat, et al. "Modeling Human Paroxysmal Nocturnal Hemoglobinuria Via CRISPR/Cas9 HSPC Gene Editing in Non-Human Primate." Blood 132, Supplement 1 (2018): 1309. http://dx.doi.org/10.1182/blood-2018-99-111984.

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Abstract Recent advances in CRISPR/Cas9 technology allowing precise genome editing at a site of interest have enabled relevant human disease modeling and the development of corrective gene therapies for various genetic disorders. Paroxysmal nocturnal hemoglobinuria (PNH) is a hematological disorder linked to acquired somatic loss-of-function mutations disrupting the X-linked PIG-A gene in hematopoietic stem and progenitor cells (HSPC), characterized by the clinical triad of intravascular hemolysis, thrombosis and bone marrow failure, as well as clonal expansion of HSPC defective in glycosylpho

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Saettini, Francesco, Fabiola Guerra, Benedetta Elena Di Majo, et al. "Investigating Neutropenia in FNIP1 Deficiency: A CRISPR/Cas9 Model in HL-60 Cells." Blood 144, Supplement 1 (2024): 2526. https://doi.org/10.1182/blood-2024-209621.

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Background FNIP1 (Folliculin Interacting Protein 1) deficiency is a rare inborn error of immunity characterized by heart defects and B-cell deficiency. Neutropenia is frequently reported in FNIP1-deficient patients, but its underlying mechanism has not been elucidated, with no evidence of neutropenia in the Fnip1 mouse model. Aims To test the hypothesis that FNIP1 deficiency could be directly associated with neutropenia we collected updated clinical and laboratory data of FNIP1-deficient patients. To unveil the role of FNIP1 in neutrophil development and function, we employed CRISPR/Cas9 genom

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Conte, Federica, Angel Ashikov, Rachel Mijdam, et al. "In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis." International Journal of Molecular Sciences 24, no. 9 (2023): 8247. http://dx.doi.org/10.3390/ijms24098247.

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Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder characterized by a highly heterogenous clinical spectrum, including hypoglycemia, cleft palate, liver dysfunction, growth delay, exercise intolerance, and dilated cardiomyopathy. Abnormal protein glycosylation has been observed in this disease. Oral supplementation with D-galactose efficiently restores protein glycosylation by replenishing the lacki

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Guerrero-Vargas, Jacky M., Diego A. Suarez-Garcia, Andrés F. Leal, et al. "Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs Disease." Pharmaceutics 17, no. 5 (2025): 628. https://doi.org/10.3390/pharmaceutics17050628.

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Background/Objectives: Tay–Sachs disease (TSD) is a neurodegenerative disorder caused by a deficiency in β-hexosaminidase A (HexA), which accumulates GM2 gangliosides, primarily in neurons. Currently, therapeutic options are limited, highlighting the need for new strategies such as gene therapy. Despite their effectiveness, viral vectors can elicit adverse immune responses; consequently, non-viral vectors are being explored as an alternative. We have previously investigated the use of CRISPR/Cas9 nickase (nCas9) as a potential tool for treating TSD. Here, we expanded our study by evaluating th

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Aring, Luisa, Eun-kyeong Choi, and Young-Ah Seo. "WDR45 Contributes to Iron Accumulation Through Dysregulation of Neuronal Iron Homeostasis." Current Developments in Nutrition 4, Supplement_2 (2020): 1188. http://dx.doi.org/10.1093/cdn/nzaa057_004.

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Abstract Objectives Neurodegeneration with brain iron accumulation (NBIA) is a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by an abnormal accumulation of brain iron and progressive degeneration of the nervous system. β-propeller protein-associated neurodegeneration (BPAN) (OMIM #300,894) is a recently identified subtype of NBIA. BPAN is caused by de novo mutations in the WD repeat domain 45 (WDR45) gene. WDR45 deficiency in BPAN patients and animal models has shown defects in autophagic flux, suggesting a role for WDR45 in autophagy. How WDR45 def

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Togashi, Tomoki, Nemekhbayar Baatartsogt, Yasumitsu Nagao, et al. "Cure of Congenital Purpura Fulminans via Expression of Engineered Protein C Through Neonatal Genome Editing in Mice." Arteriosclerosis, Thrombosis, and Vascular Biology, November 7, 2024. http://dx.doi.org/10.1161/atvbaha.123.319460.

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BACKGROUND: PC (protein C) is a plasma anticoagulant encoded by PROC ; mutation in both PROC alleles results in neonatal purpura fulminans—a fatal systemic thrombotic disorder. In the present study, we aimed to develop a genome editing treatment to cure congenital PC deficiency. METHODS: We generated an engineered APC (activated PC) to insert a furin-cleaving peptide sequence between light and heavy chains. The engineered PC was expressed in the liver of mice using an adeno-associated virus vector or CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats/clustered regularly int

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Cardo, Lucia F., Daniel C. de la Fuente, and Meng Li. "Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder." Molecular Autism 14, no. 1 (2023). http://dx.doi.org/10.1186/s13229-023-00540-x.

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Abstract Background Disruptions of SETBP1 (SET binding protein 1) on 18q12.3 by heterozygous gene deletion or loss-of-function variants cause SETBP1 disorder. Clinical features are frequently associated with moderate to severe intellectual disability, autistic traits and speech and motor delays. Despite the association of SETBP1 with neurodevelopmental disorders, little is known about its role in brain development. Methods Using CRISPR/Cas9 genome editing technology, we generated a SETBP1 deletion model in human embryonic stem cells (hESCs) and examined the effects of SETBP1-deficiency in neur

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Politiek, Frouwkje A., Marjolein Turkenburg, Rob Ofman, and Hans R. Waterham. "Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype." Frontiers in Immunology 15 (March 14, 2024). http://dx.doi.org/10.3389/fimmu.2024.1379220.

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ObjectiveBi-allelic pathogenic variants in the MVK gene, which encodes mevalonate kinase (MK), an essential enzyme in isoprenoid biosynthesis, cause the autoinflammatory metabolic disorder mevalonate kinase deficiency (MKD). We generated and characterized MK-deficient monocytic THP-1 cells to identify molecular and cellular mechanisms that contribute to the pro-inflammatory phenotype of MKD.MethodsUsing CRISPR/Cas9 genome editing, we generated THP-1 cells with different MK deficiencies mimicking the severe (MKD-MA) and mild end (MKD-HIDS) of the MKD disease spectrum. Following confirmation of

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Dissertations / Theses on the topic "CRISPR-Cas9, genome editing, CDKL deficiency disorder"

1

Carriero, Miriam Lucia. "CRISPR/Cas9-based targeted genome editing for the treatment of CDKL5 deficiency disorder." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1194543.

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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD), which is a rare neurodevelopmental disease characterized by severe epilepsy and global developmental delay. Most children affected suffer from seizures beginning in the first months of life and severe impairment of cognitive and motor skills, with great impact on their quality of life. Most cannot walk, talk, or feed themselves, and many are confined to using a wheelchair. Although rare, CDKL5 deficiency disorder is one of the most common forms of genetic epilepsy. Currently, there is n

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