Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Bidollari, Eris; Rotundo, Giovannina; Altieri, Filomena; Amicucci, Mariangela; Wiquel, Daniele; Ferrari, Daniela; Goldoni, Marina; Bernardini, Laura; Consoli, Federica; Luca, Alessandro De; Fanelli, Sergio; Lamorte, Giuseppe; D’Agruma, Leonardo; Vescovi, Angelo L.; Squitieri, Ferdinando; Rosati, Jessica

doi:10.1016/j.scr.2019.101551

Cited by 9 publications

(4 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To date, only two iPSC lines derived from DRPLA patients have been established. 102,103 The potential applicability of these models will be discussed in the "Future Perspectives" section.…”

Section: Atrophin-1 Function and Dysfunctionmentioning

confidence: 99%

“…Induced pluripotent stem cell (iPSC) technology can restore the embryonic state of somatic cells, for example, patients' fibroblasts, by the delivery of just four reprograming factors. To date, only two iPSC lines derived from DRPLA patients have been established 102,103 . The potential applicability of these models will be discussed in the “Future Perspectives” section.…”

Section: Modelsmentioning

confidence: 99%

See 1 more Smart Citation

Atrophin‐1 Function and Dysfunction in Dentatorubral–Pallidoluysian Atrophy

et al. 2023

View full text Add to dashboard Cite

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, incurable genetic disease that belongs to the group of polyglutamine (polyQ) diseases. DRPLA is the most common in the Japanese population; however, its global prevalence is also increasing due to better clinical recognition. It is characterized by cerebellar ataxia, myoclonus, epilepsy, dementia, and chorea. DRPLA is caused by dynamic mutation of CAG repeat expansion in ATN1 gene encoding the atrophin-1 protein. In the cascade of molecular disturbances, the pathological form of atrophin-1 is the initial factor, which has not been precisely characterized so far. Reports indicate that DRPLA is associated with disrupted protein-protein interactions (in which an expanded polyQ tract plays a crucial role), as well as gene expression deregulation. There is a great need to design efficient therapy that would address the underlying neurodegenerative process and thus prevent or alleviate DRPLA symptoms. An in-depth understanding of the normal atrophin-1 function and mutant atrophin-1 dysfunction is crucial for this purpose.

show abstract

“…To date, only two iPSC lines derived from DRPLA patients have been established. 102,103 The potential applicability of these models will be discussed in the "Future Perspectives" section.…”

Section: Atrophin-1 Function and Dysfunctionmentioning

confidence: 99%

Section: Modelsmentioning

confidence: 99%

Atrophin‐1 Function and Dysfunction in Dentatorubral–Pallidoluysian Atrophy

et al. 2023

View full text Add to dashboard Cite

show abstract

“…ATN1 is highly expressed in brain tissues and mutations in the ATN1 gene can cause a rare neurodegenerative disease, dentatorubralpallidoluysian atrophy (DRPLA) [9]. In most of the previous ATN1 expression studies [10,11], the focus was on DRPLA. Recently, ATN1 was reported to play an important role in NSC maintenance [12], which is in agreement with our results.…”

Section: Introductionmentioning

confidence: 99%

Maternal sevoflurane exposure affects differentiation of hippocampal neural stem cells by regulating miR-410-3p and ATN1

Zhang

et al. 2020

Stem Cell Res Ther

View full text Add to dashboard Cite

Background Currently, numerous animal studies have shown that exposure to commonly used general anesthetics during pregnancy may cause neurocognitive impairment in the offspring. Reportedly, exposure to sevoflurane during mid-trimester of pregnancy can inhibit proliferation of neural stem cells (NSCs) and lead to early apoptosis. Whether exposure to sevoflurane during pregnancy affects the differentiation of NSCs remains unclear. Methods In the present study, pregnant rats were exposed to 3% sevoflurane once for 2 h on gestational day 14 (G14) or 3 times for 2 h on G13, G14, and G15. Next, the differentiation of NSCs was measured using neuron marker β-tubulin III and astrocyte marker glial fibrillary acidic protein (GFAP) in fetal brain tissues 24 h and 72 h after anesthesia and in hippocampus on postnatal day 28. Primary cultured rat NSCs were exposed to 4.1% sevoflurane to explore the mechanism. Results The results showed that during mid-trimester, multiple exposures to sevoflurane can cause premature differentiation of NSCs in developing brains of offspring and lead to long-term neuron reduction and astrocyte proliferation in hippocampus. The data from the present study indicated that repeated exposure to sevoflurane downregulated atrophin-1 (ATN1) expression and caused early differentiation of NSCs. Overexpression of ATN1 via lentivirus transfection attenuated the influence of sevoflurane. Using dual luciferase assay, ATN1 was found to be a target gene of microRNA-410-3p (miR-410-3p). MiR-410-3p suppression via lentivirus transfection recovered the ATN1 expression and differentiation of NSCs. Conclusions The results from the present study demonstrated that repeated exposure to sevoflurane leads to early differentiation of NSCs and long-term effects via the miR-410-3p/ATN1 pathway.

show abstract

“…ATN1 is highly expressed in brain tissues and mutations in the ATN1 gene can cause a rare neurodegenerative disease, Dentatorubral-pallidoluysian atrophy (DRPLA) (Schilling et al, 1999). In most of the previous ATN1 expression studies (Bidollari et al, 2019) (Napoletano et al, 2011), the focus was on DRPLA. Recently, ATN1 was reported to play an important role in NSC maintenance (F. Zhang, Xu, Yuan, Sun, & Xu, 2014), which is in agreement with our results.…”

Section: Introductionmentioning

confidence: 99%

Maternal sevoflurane exposure affects differentiation of hippocampal neural stem cells by regulating miR-410-3p and ATN1

Zhang

et al. 2020

Preprint

View full text Add to dashboard Cite

Background Currently, numerous animal studies have shown that exposure to commonly used general anesthetics during pregnancy may cause neurocognitive impairment in the offspring. Reportedly, exposure to sevoflurane during mid-trimester of pregnancy can inhibit proliferation of neural stem cells (NSCs) and lead to early apoptosis. Whether exposure to sevoflurane during pregnancy affects the differentiation of NSCs remains unclear. Methods In the present study, pregnant rats were exposed to 3% sevoflurane once for 2 h on gestational day 14 (G14) or 3 times for 2 h on G13, G14, and G15. Next, the differentiation of NSCs was measured using neuron marker β-tubulin III and astrocyte marker glial fibrillary acidic protein (GFAP) in fetal brain tissues 24 h and 72 h after anesthesia and in hippocampus on postnatal day 28. Primary cultured rat NSCs were exposed to 4.1% sevoflurane to explore the mechanism. Results The results showed that during mid-trimester, multiple exposures to sevoflurane can cause premature differentiation of NSCs in developing brains of offspring and lead to long-term neuron reduction and astrocyte proliferation in hippocampus. The data from the present study indicated that repeated exposure to sevoflurane downregulated atrophin-1 (ATN1) expression and caused early differentiation of NSCs. Overexpression of ATN1 via lentivirus transfection attenuated the influence of sevoflurane. Using dual luciferase assay, ATN1 was found to be a target gene of microRNA‐410-3p (miR‐410-3p). MiR-410-3p suppression via lentivirus transfection recovered the ATN1 expression and differentiation of NSCs.Conclusions The results from the present study demonstrated that repeated exposure to sevoflurane leads to early differentiation of NSCs and long-term effects via the miR-410-3p/ATN1 pathway.

show abstract

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Cited by 9 publications

References 6 publications

Atrophin‐1 Function and Dysfunction in Dentatorubral–Pallidoluysian Atrophy

Atrophin‐1 Function and Dysfunction in Dentatorubral–Pallidoluysian Atrophy

Maternal sevoflurane exposure affects differentiation of hippocampal neural stem cells by regulating miR-410-3p and ATN1

Maternal sevoflurane exposure affects differentiation of hippocampal neural stem cells by regulating miR-410-3p and ATN1

Contact Info

Product

Resources

About