All Relations between Fragile X Syndrome and fmr1

Publication Sentence Publish Date Extraction Date Species
Carissa L Sirois, Yu Guo, Meng Li, Natalie E Wolkoff, Tomer Korabelnikov, Soraya Sandoval, Jiyoun Lee, Minjie Shen, Amaya Contractor, Andre M M Sousa, Anita Bhattacharyya, Xinyu Zha. CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons. Cell reports. vol 43. issue 6. 2024-06-12. PMID:38865241. the 5' untranslated region (utr) of the fragile x messenger ribonucleoprotein 1 (fmr1) gene contains polymorphic cgg repeats, the length of which has differing effects on fmr1 expression and human health, including the neurodevelopmental disorder fragile x syndrome. 2024-06-12 2024-06-15 human
Bohan Zhang, Jingbao Zhang, Huan Chen, Dan Qiao, Fangzhen Guo, Xiangting Hu, Chao Qin, Xiaowen Jin, Kaixi Zhang, Chang Wang, Huixian Cui, Sha L. Role of FMRP in AKT/mTOR pathway-mediated hippocampal autophagy in fragile X syndrome. Progress in neuro-psychopharmacology & biological psychiatry. vol 134. 2024-06-08. PMID:38823765. fragile x syndrome (fxs) is caused by epigenetic silencing of the fmr1 gene, leading to the deletion of the coding protein fmrp. 2024-06-08 2024-06-11 mouse
Cui Yang, Yu-Ting Huang, Yi-Fei Yao, Jun-Yi Fu, Yue-Sheng Lon. Hippocampal proteome comparison of infant and adult Fmr1 deficiency mice reveals adult-related changes associated with postsynaptic density. Journal of proteomics. 2024-05-26. PMID:38797434. deficiency in fragile x mental retardation 1 (fmr1) leads to loss of its encoded protein fmrp and causes fragile x syndrome (fxs) by dysregulating its target gene expression in an age-related fashion. 2024-05-26 2024-05-31 mouse
Olivier Dionne, Armita Abolghasemi, François Corbin, Artuela Çak. Implication of the endocannabidiome and metabolic pathways in fragile X syndrome pathophysiology. Psychiatry research. vol 337. 2024-05-19. PMID:38763080. fragile x syndrome (fxs) results from the silencing of the fmr1 gene and is the most prevalent inherited cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorder. 2024-05-19 2024-05-27 Not clear
S D'Antoni, M Spatuzza, C M Bonaccorso, M V Catani. Role of Fragile X Messenger Ribonucleoprotein 1 in the pathophysiology of brain disorders: a glia perspective. Neuroscience and biobehavioral reviews. 2024-05-19. PMID:38763180. mutations in the fmr1 gene encoding fmrp are responsible for fragile x syndrome (fxs), a leading genetic cause of intellectual disability and autism spectrum disorder, and fragile x-associated tremor-ataxia syndrome (fxtas), a neurodegenerative disorder in aging men. 2024-05-19 2024-05-27 Not clear
Giovanni Pagano, Alex Lyakhovich, Federico V Pallardó, Luca Tiano, Adriana Zatterale, Marco Trifuogg. Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients. Molecular biology reports. vol 51. issue 1. 2024-04-05. PMID:38578387. fragile x syndrome (fxs) is a genetic disorder characterized by mutation in the fmr1 gene, leading to the absence or reduced levels of fragile x messenger ribonucleoprotein 1 (fmrp). 2024-04-05 2024-04-07 Not clear
Anna L Vlasits, Maria Syeda, Annelise Wickman, Pedro Guzman, Tiffany M Schmid. Atypical retinal function in a mouse model of Fragile X syndrome. bioRxiv : the preprint server for biology. 2024-04-01. PMID:38559003. we explored retinal function in the fmr1 knockout model of fragile x syndrome, focusing on a specific type of retinal neuron, the "sustained on alpha" retinal ganglion cell. 2024-04-01 2024-04-04 mouse
Diana A Abbasi, Elizabeth Berry-Kravis, Xinyu Zhao, Stephanie M Cologn. Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues. Neurobiology of disease. 2024-03-28. PMID:38548140. 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 that results in a deficiency or absence of its protein product, fragile x messenger ribonucleoprotein (fmrp). 2024-03-28 2024-03-31 Not clear
Pablo Juarez, Maria Jimena Salcedo-Arellano, Brett Dufour, Veronica Martinez-Cerdeñ. Fragile X cortex is characterized by decreased parvalbumin-expressing interneurons. Cerebral cortex (New York, N.Y. : 1991). vol 34. issue 3. 2024-03-24. PMID:38521994. fragile x syndrome is a genetic neurodevelopmental disorder caused by a mutation of the fragile x messenger ribonucleoprotein 1 (fmr1) gene in the x chromosome. 2024-03-24 2024-03-26 Not clear
Dragana Protic, Randi Hagerma. State-of-the-art therapies for fragile X syndrome. Developmental medicine and child neurology. 2024-02-22. PMID:38385885. fragile x syndrome (fxs) is a neurodevelopmental disorder caused by a full mutation (> 200 cgg repeats) in the fmr1 gene. 2024-02-22 2024-02-24 Not clear
Gabriele Giua, Daniela Iezzi, Alba Caceres-Rodriguez, Benjamin Strauss, Pascale Chavis, Olivier J Manzon. Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome. Biology of sex differences. vol 15. issue 1. 2024-02-21. PMID:38383408. sex-specific modulation of early life vocalization and cognition by fmr1 gene dosage in a mouse model of fragile x syndrome. 2024-02-21 2024-02-24 mouse
Judith L A Fishburn, Heather L Larson, An Nguyen, Chloe J Welch, Taylor Moore, Aliyah Penn, Johnathan Newman, Anthony Mangino, Erin Widman, Rana Ghobashy, Jocelyn Witherspoon, Wendy Lee, Kimberly A Mulliga. Bisphenol F affects neurodevelopmental gene expression, mushroom body development and behavior in Drosophila melanogaster. Neurotoxicology and teratology. 2024-02-01. PMID:38301979. further, bpf may elicit a gene-environment interaction with drosophila fragile x messenger ribonucleoprotein 1 (dfmr1)-the ortholog of human fmr1, which causes fragile x syndrome and is the most common monogenetic cause of intellectual disability and autism spectrum disorder. 2024-02-01 2024-02-04 human
Heleen M Van't Spijker, Joel D Richte. FMRP regulation of aggrecan mRNA translation controls perineuronal net development. Journal of neurochemistry. 2024-01-15. PMID:38225196. pnn formation is disrupted in fragile x syndrome, which is caused by silencing of the fragile x messenger ribonucleoprotein 1 (fmr1) gene and loss of its protein product fmrp. 2024-01-15 2024-01-18 mouse
Julián Ramírez-Cheyne, Diana López, César Payán, Mauricio Arcos-Burgos, Wilmar Saldarriag. Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline. American journal of medical genetics. Part A. 2024-01-02. PMID:38164622. the fmr1 5' regulation gene region harbors a cgg trinucleotide repeat expansion (cgg-tre) that causes fragile x syndrome (fxs) when it expands to more than 200 repetitions. 2024-01-02 2024-01-05 Not clear
Areerat Hnoonual, Oradawan Plong-On, Juthamas Worachotekamjorn, Chariyawan Charalsawadi, Pornprot Limpraser. Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature. Clinica chimica acta; international journal of clinical chemistry. vol 553. 2023-12-28. PMID:38142803. clinical and molecular characteristics of fmr1 microdeletion in patient with fragile x syndrome and review of the literature. 2023-12-28 2023-12-31 Not clear
Areerat Hnoonual, Oradawan Plong-On, Juthamas Worachotekamjorn, Chariyawan Charalsawadi, Pornprot Limpraser. Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature. Clinica chimica acta; international journal of clinical chemistry. vol 553. 2023-12-28. PMID:38142803. fragile x syndrome (fxs) is mainly caused by fmr1 cgg repeat expansions. 2023-12-28 2023-12-31 Not clear
Thomas Malachowski, Keerthivasan Raanin Chandradoss, Ravi Boya, Linda Zhou, Ashley L Cook, Chuanbin Su, Kenneth Pham, Spencer A Haws, Ji Hun Kim, Han-Seul Ryu, Chunmin Ge, Jennifer M Luppino, Son C Nguyen, Katelyn R Titus, Wanfeng Gong, Owen Wallace, Eric F Joyce, Hao Wu, Luis Alejandro Rojas, Jennifer E Phillips-Cremin. Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome. Cell. vol 186. issue 26. 2023-12-22. PMID:38134876. in fragile x syndrome (fxs), mutation-length expansion of a cgg str represses fmr1 via local dna methylation. 2023-12-22 2023-12-25 Not clear
Suna Jung, Sneha Shah, Geongoo Han, Joel D Richte. FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm. PLoS biology. vol 21. issue 12. 2023-12-04. PMID:38048343. fragile x syndrome (fxs) is a neurodevelopmental disorder that is often modeled in fmr1 knockout mice where the rna-binding protein fmrp is absent. 2023-12-04 2023-12-10 mouse
Xiuzhen Chen, Mervin Fansler, Urška Janjoš, Jernej Ule, Christine May. The FXR1 network acts as signaling scaffold for actomyosin remodeling. bioRxiv : the preprint server for biology. 2023-11-14. PMID:37961296. a point mutation in fxr1, which is found in its fmr1 homolog and causes fragile x syndrome, disrupts the network. 2023-11-14 2023-11-20 Not clear
Shanshan Zhao, Xiangyu Jiang, Linkun Han, Yiru Jiang, Yong Wang, Jian Meng, Xiang Zhu, Xian Zhang, Hong Luo, Yun-Wu Zhan. Tau reduction attenuates autism-like features in Fmr1 knockout mice. Molecular autism. vol 14. issue 1. 2023-11-08. PMID:37936174. fragile x syndrome (fxs) is a leading cause of autism spectrum disorder (asd) and resulted from a loss of the fmr1-encoded fragile x messenger ribonucleoprotein 1 (fmrp) protein due to large cgg repeat expansions in the promoter region of the fmr1 gene. 2023-11-08 2023-11-20 mouse