Publications by authors named "D V Mamaeva"
Article Synopsis
- Inherited retinal diseases (IRDs) cause people to lose their vision slowly, and there are over 270 genes that can cause these problems.
- One specific gene, RLBP1, leads to different eye disorders depending on changes in that gene, affecting proteins important for seeing.
- Researchers created a method to treat these disorders using gene therapy, and they discovered a new form of the CRALBP protein that could help improve treatments in both humans and mice.
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, which to date has never been associated with an IRD. To validate TBC1D32 as a putative RP causative gene, we combined Xenopus in vivo approaches and human induced pluripotent stem cell-derived (iPSC-derived) retinal models.
View Article and Find Full Text PDFBackground: Human-induced pluripotent stem cell-derived retinal organoids are a valuable tool for disease modelling and therapeutic development. Many efforts have been made over the last decade to optimise protocols for the generation of organoids that correctly mimic the human retina. Most protocols use common media supplements; however, protocol-dependent variability impacts data interpretation.
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- * RNA profiling revealed that after injury, these cells activate specific signaling pathways (STAT3 and ERK/MAPK) and drastically upregulate 510 genes while downregulating others related to cilia formation.
- * The study suggests that the interaction between microglial cells and the Osmr/Oncostatin pathway influences the differentiation of ependymal cells towards astrocytes after spinal cord injuries.
The ability to reprogram somatic cells into induced pluripotent stem cells (iPSCs) was developed in 2006 and represented a major breakthrough in stem cell research. A more recent milestone in biomedical research was reached in 2013 when the CRISPR/Cas9 system was used to edit the genome of mammalian cells. The coupling of both human (h)iPSCs and CRISPR/Cas9 technology offers great promise for cell therapy and regenerative medicine.
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