Zobrazeno 1 - 10
of 8 143
pro vyhledávání: '"MeCP2"'
Autor:
Alessandro Esposito, Tommaso Seri, Martina Breccia, Marzia Indrigo, Giuseppina De Rocco, Francesca Nuzzolillo, Vanna Denti, Francesca Pappacena, Gaia Tartaglione, Simone Serrao, Giuseppe Paglia, Luca Murru, Stefano de Pretis, Jean-Michel Cioni, Nicoletta Landsberger, Fabrizia Claudia Guarnieri, Michela Palmieri
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 11, Pp 2795-2826 (2024)
Abstract Loss-of-function mutations in MECP2 are associated to Rett syndrome (RTT), a severe neurodevelopmental disease. Mainly working as a transcriptional regulator, MeCP2 absence leads to gene expression perturbations resulting in deficits of syna
Externí odkaz:
https://doaj.org/article/19b041262fc340da86e090da09d36f4a
Autor:
Danielle L. Tomasello, M. Inmaculada Barrasa, David Mankus, Katia I. Alarcon, Abigail K. R. Lytton-Jean, X. Shawn Liu, Rudolf Jaenisch
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-27 (2024)
Abstract Studies on MECP2 function and its implications in Rett Syndrome (RTT) have traditionally centered on neurons. Here, using human embryonic stem cell (hESC) lines, we modeled MECP2 loss-of-function to explore its effects on astrocyte (AST) dev
Externí odkaz:
https://doaj.org/article/504471da9d3c4319ac418eab244a6290
Publikováno v:
Toxicology Reports, Vol 12, Iss , Pp 91-99 (2024)
Autism spectrum disorder, or individual disability (ID), is a condition characterized by complications in social interaction, restricted repetitive behavior, and difficulties in social communication. Neuquinon (NQ) possess a powerful therapeutic pote
Externí odkaz:
https://doaj.org/article/8c6c2940a4d647a09ffc168dc626126f
Probing a neural unreliability account of auditory sensory processing atypicalities in Rett Syndrome
Autor:
Tufikameni Brima, Shlomit Beker, Kevin D. Prinsloo, John S. Butler, Aleksandra Djukic, Edward G. Freedman, Sophie Molholm, John J. Foxe
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background In the search for objective tools to quantify neural function in Rett Syndrome (RTT), which are crucial in the evaluation of therapeutic efficacy in clinical trials, recordings of sensory-perceptual functioning using event-related
Externí odkaz:
https://doaj.org/article/018267cf49de46d48a374804fac3440b
Autor:
Rodrigo Lata, Liesbeth Steegmans, Ranie Kellens, Marnik Nijs, Hugo Klaassen, Matthias Versele, Frauke Christ, Zeger Debyser
Publikováno v:
Translational Medicine Communications, Vol 9, Iss 1, Pp 1-14 (2024)
Abstract Rett syndrome (OMIM 312750) is a rare neurodevelopmental disorder caused by de novo mutations in the Methyl-CpG Binding Protein 2 (MeCP2) gene located on the X-chromosome, typically affecting girls. Rett syndrome symptoms, characterized by m
Externí odkaz:
https://doaj.org/article/21119448f0024949a72193f1521e4bd7
Publikováno v:
Frontiers in Nutrition, Vol 11 (2024)
Extensive evidence demonstrates that prenatal nutrition is crucial for adequate fetal development. Specifically, maternal choline intake plays a significant role in gene expression, epigenetics, and cell membrane formation. Preclinical models have sh
Externí odkaz:
https://doaj.org/article/499eebf4a8464f8a9700456b226a039d
Autor:
Giorgia Pepe, Roberto Coco, Domenico Corica, Giovanni Luppino, Letteria Anna Morabito, Cecilia Lugarà, Tiziana Abbate, Giuseppina Zirilli, Tommaso Aversa, Stefano Stagi, Malgorzata Wasniewska
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
BackgroundRett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that involves mainly girls and is the second most frequent cause of genetic intellectual disability. RTT leads to neurological regression between 6 and 18 months of
Externí odkaz:
https://doaj.org/article/cf1e598adf0743ddaac5389c238e7144
Autor:
María Abellán-Álvaro, Anna Teruel-Sanchis, Maria Francisca Madeira, Enrique Lanuza, Mónica Santos, Carmen Agustín-Pavón
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
The olfactory system is a niche of continuous structural plasticity, holding postnatal proliferative neurogenesis in the olfactory bulbs and a population of immature neurons in the piriform cortex. These neurons in the piriform cortex are generated d
Externí odkaz:
https://doaj.org/article/ab974e7c37f3476698610f6aec58307e
Autor:
Lan Zeng, Hui Zhu, Jin Wang, Qiyan Wang, Ying Pang, Zemin Luo, Ai Chen, Shengfang Qin, Shuyao Zhu
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. It is characterized by delayed or absent speech development, severe motor and cognitive impairment, and recurrent respiratory infec
Externí odkaz:
https://doaj.org/article/b9bfe063974243c0b55e3259cae69b3a
Autor:
Samar Z. Rizvi, Wing Suen Chan, Eleonora Maino, Sydney Steiman, Georgiana Forguson, Maya Klepfish, Ronald D. Cohn, Evgueni A. Ivakine
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102356- (2024)
Recent progress in genome editing technologies has catalyzed the generation of sophisticated cell models; however, the precise modeling of copy-number variation (CNV) diseases remains a significant challenge despite their substantial prevalence in th
Externí odkaz:
https://doaj.org/article/16631687f3624b21a3da29b4dc879eca