Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 24-year-old male patient affected by Lafora disease. The patient is homozygous for the c.721C>T, p.(Arg241*) nonsense variant in the EPM2A gene, which codes for the laforin protein. The generated iPSC line possesses a normal karyotype, expresses pluripotency markers, and can differentiate into derivatives of the three germ layers. It is configured as a useful tool for both disease modeling and therapy development.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.scr.2025.103792 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
E2027 (irsenontrine), a phosphodiesterase 9 inhibitor, enhances cholinergic function when combined with donepezil hydrochloride.
Eur J Pharmacol
September 2025
Eisai, Inc., 200 Metro Blvd. Nutley, NJ 07110, USA. Electronic address:
Phosphodiesterase 9 (PDE9) is an enzyme that hydrolyzes cyclic guanosine monophosphate (cGMP)-a second messenger that regulates neuronal plasticity and memory function. PDE9 inhibition has been shown to enhance cognitive function in rodents, underlining the potential of PDE9 inhibitors (PDE9Is) as novel therapeutics for cognitive dysfunction. Considering the critical role of nitric oxide (NO)-cGMP signaling cascade in acetylcholine (ACh) release, the combination of PDE9Is and acetylcholinesterase inhibitors may synergistically elevate ACh levels in the brain.
View Article and Find Full Text PDFFunctional validation of the Nav1.5/R1432G Brugada syndrome variant using a Nav1.5 knockout iPSC-derived cardiomyocyte model.
Biochem Biophys Res Commun
September 2025
CERVO Brain Research Centre, Quebec City, QC, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada. Electronic address:
Brugada syndrome is a rare inherited cardiac arrhythmia disorder primarily characterized by ventricular fibrillation, which can lead to sudden cardiac death. It follows an autosomal dominant pattern of inheritance and is most associated with dysfunction of the cardiac sodium channel Nav1.5.
View Article and Find Full Text PDFInnovations in cardiac regenerative medicine: The role of tissue engineering.
Int J Artif Organs
September 2025
Department of Clinical Engineering, Faculty of Medical Science and Technology, Gunma Paz University, Takasaki-shi, Gunma, Japan.
Cardiovascular disease (CVD) is a leading cause of death worldwide. CVD includes conditions such as myocardial infarction (MI), arrhythmias, valvular heart disease, and cardiomyopathy. The limitations of heart treatment are related to the inability of damaged cells to regenerate, which leads to an increasing demand for new therapies.
View Article and Find Full Text PDFElucidating the role of human skeletal muscles in the pathogenesis of enterovirus D68 infection.
Life Sci Alliance
November 2025
Department of Viroscience, Erasmus MC, Rotterdam, The Netherlands
Enterovirus D68 (EV-D68) is an emerging respiratory virus associated with extra-respiratory complications, especially acute flaccid myelitis. However, the pathogenesis of acute flaccid myelitis is not fully understood. It is hypothesised that through infection of skeletal muscles, the virus further infects motor neurons via the neuromuscular junction.
View Article and Find Full Text PDFDifferential cell survival outcomes in response to diverse amino acid stress.
Life Sci Alliance
November 2025
Immunoregulation Research Group, Max Planck Institute of Biochemistry, Martinsried, Germany
Amino acid (AA) detection is fundamental for cellular function, balancing translation demands, biochemical pathways, and signaling networks. Although the GCN2 and mTORC1 pathways are known to regulate AA sensing, the global cellular response to AA deprivation remains poorly understood, particularly in non-transformed cells, which may exhibit distinct adaptive strategies compared with cancer cells. Here, we employed murine pluripotent embryonic stem (ES) cells as a model system to dissect responses to AA stress.
View Article and Find Full Text PDF