Publications by authors named "Mustafa Daghestani"
Article Synopsis
- BTBGD is a rare genetic disorder caused by mutations in the SLC19A3 gene, leading to severe neurological symptoms like confusion, seizures, and disabilities.
- Diagnosis is challenging due to the disease's rarity and varied symptoms, with current treatment involving thiamine and biotin supplementation, although long-term effectiveness is still unclear.
- Researchers have created induced pluripotent stem cell (iPSC) lines from a BTBGD patient, which can help study the disease's mechanisms and potentially lead to new treatments.
Background: Human iPSCs' derivation and use in clinical studies are transforming medicine. Yet, there is a high cost and long waiting time associated with autologous iPS-based cellular therapy, and the genetic engineering of hypo-immunogenic iPS cell lines is hampered with numerous hurdles. Therefore, it is increasingly interesting to create cell stocks based on HLA haplotype distribution in a given population.
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- Dravet syndrome (DRVT) is a common epileptic encephalopathy primarily linked to SCN1A gene mutations in 80% of cases.
- Researchers have created induced pluripotent stem cells (iPSCs) to model DRVT, but no studies have focused on rare genetic variants until now.
- This study introduces two new DRVT-iPSC lines with specific mutations in CPLX1 and SCN9A, offering a valuable tool to explore the molecular mechanisms behind the associated cellular dysfunctions.
Myoglobin (MB) is a cytoplasmic hemoprotein that is predominantly expressed in the heart and oxidative myofibers of skeletal muscle. It has been demonstrated that MB binds to oxygen and promotes its diffusion for energy production in the mitochondria. Recently, MB was found to be expressed in different forms of malignant tumors and cancer cell lines.
View Article and Find Full Text PDFIn this study we isolated and enriched erythroid progenitor cells (EPCs) from a 10 ml peripheral blood sample from a 37-year old healthy Saudi donor. After expansion, these EPCs were reprogrammed using episomal plasmids to generate an induced pluripotent stem (iPS) cell line, KAIMRCi001-A. The pluripotency of this line was confirmed by measuring the expression of typical pluripotency markers and assessing differentiation potential in vitro.
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