Zobrazeno 1 - 10
of 594
pro vyhledávání: '"fxs"'
Autor:
Navneeta Kaul, Sarala J. Pradhan, Nathan G. Boin, Madeleine M. Mason, Julian Rosales, Emily L. Starke, Emily C. Wilkinson, Erich G. Chapman, Scott A. Barbee
Publikováno v:
RNA Biology, Vol 21, Iss 1, Pp 859-870 (2024)
Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability and is caused by mutations in the gene encoding the Fragile X messenger ribonucleoprotein (FMRP). FMRP is an evolutionarily conserved and neuronally enriched RNA-bi
Externí odkaz:
https://doaj.org/article/2ceefdce3e2846ea83bca36538c1d3c1
Autor:
Vipendra Kumar, Kwan Young Lee, Anirudh Acharya, Matthew S Babik, Catherine A Christian-Hinman, Justin S Rhodes, Nien-Pei Tsai
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 3, Pp 506-522 (2024)
Abstract Fragile X syndrome (FXS) is the leading cause of inherited autism and intellectual disabilities. Aberrant protein synthesis due to the loss of fragile X messenger ribonucleoprotein (FMRP) is the major defect in FXS, leading to a plethora of
Externí odkaz:
https://doaj.org/article/b326dbbf75824151a5fca593719224e0
Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues
Publikováno v:
Neurobiology of Disease, Vol 194, Iss , Pp 106486- (2024)
Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene tha
Externí odkaz:
https://doaj.org/article/bd4c2ff882ad436e9388c5261b14161c
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 11, Pp 9306-9315 (2023)
The complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patien
Externí odkaz:
https://doaj.org/article/802551c21b9c4ef9935e7090b09bf23c
Autor:
Minggang Fang, Sara K. Deibler, Pranathi Meda Krishnamurthy, Feng Wang, Paola Rodriguez, Shahid Banday, Ching-Man Virbasius, Miguel Sena-Esteves, Jonathan K. Watts, Michael R. Green
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Fragile X Syndrome (FXS) is a neurological disorder caused by epigenetic silencing of the FMR1 gene. Reactivation of FMR1 is a potential therapeutic approach for FXS that would correct the root cause of the disease. Here, using a candidate-based shRN
Externí odkaz:
https://doaj.org/article/3a274fd2567945d28c750f6d92ecc94f
Autor:
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Zohor A. Azher, Alaa H. Falemban, Wefaq M. Madani, Wafaa Alosaimi, Ghydda Alghamdi, Ikhlas A. Sindi
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome’s variable expressivity and common como
Externí odkaz:
https://doaj.org/article/3c0b8312931542ca91a8be99b5e1acde
Autor:
Chiara Picciuca, Martina Assogna, Romina Esposito, Alessia D’Acunto, Matteo Ferraresi, Silvia Picazio, Ilaria Borghi, Alex Martino Cinnera, Sonia Bonnì, Pietro Chiurazzi, Giacomo Koch
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundFragile X syndrome (FXS) is the leading cause of genetic intellectual disability. Among the neurobehavioral dysfunctions in FXS individuals, language development and literacy are compromised. Recent evidence hypothesized that the disruption
Externí odkaz:
https://doaj.org/article/1134743ae3e74ce4901b43fa8e8f37ea
Autor:
Magdalena Chojnacka, Anna Beroun, Marta Magnowska, Aleksandra Stawikowska, Dominik Cysewski, Jacek Milek, Magdalena Dziembowska, Bozena Kuzniewska
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Fragile X syndrome (FXS) is the most common monogenetic cause of inherited intellectual disability and autism in humans. One of the well-characterized molecular phenotypes of Fmr1 KO mice, a model of FXS, is increased translation of synaptic proteins
Externí odkaz:
https://doaj.org/article/67dff7026efd4af9827db0312dff2d8e
Publikováno v:
Molecular Brain, Vol 16, Iss 1, Pp 1-8 (2023)
Abstract FMRP, an RNA-binding protein, has previously shown to be involved in regulation of circadian rhythms in flies and mice. However, the molecular mechanism remains elusive. Here we demonstrate that core circadian component Per1 mRNA was a targe
Externí odkaz:
https://doaj.org/article/96855a94a21c4e92b9d324644ba27b94
Autor:
Lauren M. Schmitt, Joy Li, Rui Liu, Paul S. Horn, John A. Sweeney, Craig A. Erickson, Ernest V. Pedapati
Publikováno v:
Molecular Autism, Vol 13, Iss 1, Pp 1-16 (2022)
Abstract Background Fragile X syndrome (FXS) is the leading inherited monogenic cause of intellectual disability and autism spectrum disorder. Executive function (EF), necessary for adaptive goal-oriented behavior and dependent on frontal lobe functi
Externí odkaz:
https://doaj.org/article/0a0ef5b228ce45da8f357b395815f3ff