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Fragile X Syndrome: From Molecular Aspect to Clinical Treatment.
Protic DD, Aishworiya R, Salcedo-Arellano MJ, Tang SJ, Milisavljevic J, Mitrovic F, Hagerman RJ, Budimirovic DB. Protic DD, et al. Int J Mol Sci. 2022 Feb 9;23(4):1935. doi: 10.3390/ijms23041935. Int J Mol Sci. 2022. PMID: 35216055 Free PMC article. Review.
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the full mutation as well as highly localized methylation of the fragile X mental retardation 1 (FMR1) gene on the long arm of the X chromosome. Children with FXS are commonly co-diagnosed wi …
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the full mutation as well as highly localized methy …
Effects of AFQ056 on language learning in fragile X syndrome.
Berry-Kravis E, Abbeduto L, Hagerman R, Coffey CS, Cudkowicz M, Erickson CA, McDuffie A, Hessl D, Ethridge L, Tassone F, Kaufmann WE, Friedmann K, Bullard L, Hoffmann A, Veenstra-VanderWeele J, Staley K, Klements D, Moshinsky M, Harkey B, Long J, Fedler J, Klingner E, Ecklund D, Costigan M, Huff T, Pearson B; NeuroNEXT FXLEARN Investigators. Berry-Kravis E, et al. J Clin Invest. 2023 Aug 31;134(5):e171723. doi: 10.1172/JCI171723. J Clin Invest. 2023. PMID: 37651202 Free PMC article. Clinical Trial.
BACKGROUNDFXLEARN, the first-ever large multisite trial of effects of disease-targeted pharmacotherapy on learning, was designed to explore a paradigm for measuring effects of mechanism-targeted treatment in fragile X syndrome (FXS). In FXLEARN, the ef …
BACKGROUNDFXLEARN, the first-ever large multisite trial of effects of disease-targeted pharmacotherapy on learning, was designed to e …
Autism medical comorbidities.
Al-Beltagi M. Al-Beltagi M. World J Clin Pediatr. 2021 May 9;10(3):15-28. doi: 10.5409/wjcp.v10.i3.15. eCollection 2021 May 9. World J Clin Pediatr. 2021. PMID: 33972922 Free PMC article.
Medical comorbidities are more common in children with autism spectrum disorders (ASD) than in the general population. Some genetic disorders are more common in children with ASD such as Fragile X syndrome, Down syndrome, Duchenne muscular dystr …
Medical comorbidities are more common in children with autism spectrum disorders (ASD) than in the general population. Some genetic …
Fragile X syndrome.
Laxova R. Laxova R. Adv Pediatr. 1994;41:305-42. Adv Pediatr. 1994. PMID: 7992687 Review.
Sensory motor integration is the therapy of choice for the learning disabilities in children with fragile X syndrome. The benefits of folic acid supplementation are equivocal. 6. ...Individuals with over 200 repeats are usually affected and said …
Sensory motor integration is the therapy of choice for the learning disabilities in children with fragile X s …
Fragile X syndrome.
Garber KB, Visootsak J, Warren ST. Garber KB, et al. Eur J Hum Genet. 2008 Jun;16(6):666-72. doi: 10.1038/ejhg.2008.61. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398441 Free PMC article. Review.
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. ...
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotiona …
Molecular Mechanisms of Synaptic Dysregulation in Fragile X Syndrome and Autism Spectrum Disorders.
Telias M. Telias M. Front Mol Neurosci. 2019 Mar 7;12:51. doi: 10.3389/fnmol.2019.00051. eCollection 2019. Front Mol Neurosci. 2019. PMID: 30899214 Free PMC article. Review.
Fragile X syndrome (FXS) is the most common form of monogenic hereditary cognitive impairment. FXS patient exhibit a high comorbidity rate with autism spectrum disorders (ASDs). This makes FXS a model disease for understanding how synaptic dysregulatio …
Fragile X syndrome (FXS) is the most common form of monogenic hereditary cognitive impairment. FXS patient exhibit a hi …
Basolateral Amygdala Hyperexcitability Is Associated with Precocious Developmental Emergence of Fear-Learning in Fragile X Syndrome.
Svalina MN, Rio CAC, Kushner JK, Levy A, Baca SM, Guthman EM, Opendak M, Sullivan RM, Restrepo D, Huntsman MM. Svalina MN, et al. J Neurosci. 2022 Sep 21;42(38):7294-7308. doi: 10.1523/JNEUROSCI.1776-21.2022. J Neurosci. 2022. PMID: 35970562 Free PMC article.
Fragile X Syndrome is a neurodevelopmental disorder and the most common monogenic cause of intellectual disability, autism spectrum disorders, and anxiety disorders. ...These results suggest that critical period plasticity in the amygdala of the …
Fragile X Syndrome is a neurodevelopmental disorder and the most common monogenic cause of intellectual disability, aut …
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S. Berry-Kravis EM, et al. Nat Rev Drug Discov. 2018 Apr;17(4):280-299. doi: 10.1038/nrd.2017.221. Epub 2017 Dec 8. Nat Rev Drug Discov. 2018. PMID: 29217836 Free PMC article. Review.
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. ...FXS is at the forefront of efforts to develop drugs for neurodevelopmental disorders …
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural defic …
Excitatory neuron-specific suppression of the integrated stress response contributes to autism-related phenotypes in fragile X syndrome.
Hooshmandi M, Sharma V, Thörn Perez C, Sood R, Krimbacher K, Wong C, Lister KC, Ureña Guzmán A, Bartley TD, Rocha C, Maussion G, Nadler E, Roque PM, Gantois I, Popic J, Lévesque M, Kaufman RJ, Avoli M, Sanz E, Nader K, Hagerman RJ, Durcan TM, Costa-Mattioli M, Prager-Khoutorsky M, Lacaille JC, Martinez-Cerdeno V, Gibson JR, Huber KM, Sonenberg N, Gkogkas CG, Khoutorsky A. Hooshmandi M, et al. Neuron. 2023 Oct 4;111(19):3028-3040.e6. doi: 10.1016/j.neuron.2023.06.017. Epub 2023 Jul 19. Neuron. 2023. PMID: 37473758
Here, we demonstrate that the main arm of the ISR, eIF2alpha phosphorylation (p-eIF2alpha), is suppressed in excitatory, but not inhibitory, neurons in a mouse model of fragile X syndrome (FXS; Fmr1(-/y)). We further show that the decrease in p-eIF2alpha is m …
Here, we demonstrate that the main arm of the ISR, eIF2alpha phosphorylation (p-eIF2alpha), is suppressed in excitatory, but not inhibitory, …
State-of-the-art therapies for fragile X syndrome.
Protic D, Hagerman R. Protic D, et al. Dev Med Child Neurol. 2024 Feb 22. doi: 10.1111/dmcn.15885. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 38385885 Review.
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a full mutation (> 200 CGG repeats) in the FMR1 gene. FXS is the leading cause of inherited intellectual disabilities and the most commonly known genetic cause of autism spectrum di …
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a full mutation (> 200 CGG repeats) in the FMR1 …
385 results