Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013T>G in the MAPT gene.

Frontotemporal dementia with parkinsonism-17 is a neurodegenerative disease characterised by pathological aggregation of the tau protein with the formation of neurofibrillary tangles and subsequent neuronal death. The inherited form of frontotemporal dementia can be caused by mutations in several genes, including the MAPT gene on chromosome 17, which encodes the tau protein. As there are currently no medically approved treatments for frontotemporal dementia, there is an urgent need for research using in vitro cell models to understand the molecular genetic mechanisms that lead to the development of the disease, to identify targets for therapeutic intervention and to test potential drugs to prevent neuronal death.

[Objective structural and functional monitoring of polypeptide retinal neuroprotective therapy in diabetic retinopathy].

Unlabelled: In recent years, there has been a growing interest in the contribution of neuroretinal degeneration to the pathogenesis of diabetic retinopathy (DR), preceding the classic vascular changes associated with DR.

Purpose: This study evaluated the impact of the polypeptide drug Retinalamin on the structural and functional condition of the retina in patients with DR using optical coherence tomography (OCT) (Topcon OCT 2000 FA, Japan) and the Diopsys Nova vision testing system for electrophysiological studies of the visual organ.

Material And Methods: The clinical study included 56 patients (112 eyes) with type 1 and type 2 diabetes and DR without macular edema.

Generation of iPSCs from a Patient with the M694V Mutation in the Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages.

Familial Mediterranean fever (FMF) is a systemic autoinflammatory disorder caused by inherited mutations in the (Mediterranean FeVer) gene, located on chromosome 16 (16p13.3) and encoding the pyrin protein. Despite the existing data on mutations, the exact mechanism of their effect on the development of the pathological processes leading to the spontaneous and recurrent autoinflammatory attacks observed in FMF, remains unclear.

Transcriptomic analysis of HEK293A cells with a CRISPR/Cas9-mediated TDP1 knockout.

Tyrosyl-DNA phosphodiesterase 1 (TDP1) is a human DNA repair protein. It is a member of the phospholipase D family based on structural similarity. TDP1 is a key enzyme of the repair of stalled topoisomerase 1 (TOP1)-DNA complexes.