Fragile X Syndrome Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Missing signals from Fragile astrocytes
Sci Signal. 2023 Jun 13;16(789):eadj1234. doi: 10.1126/scisignal.adj1234. Epub 2023 Jun 13.ABSTRACTThe loss of a secreted factor from astrocytes may underlie neuronal pathology in Fragile X syndrome.PMID:37311032 | DOI:10.1126/scisignal.adj1234 (Source: Science Signaling)
Source: Science Signaling - June 13, 2023 Category: Biomedical Science Authors: Leslie K Ferrarelli Source Type: research

Would be mandatory Fragile X syndrome screening in Premature Ovarian Insufficiency study?
We report the case of 33-year-old woman referred for 5-month-long amenorrhea. (Source: Maturitas)
Source: Maturitas - June 8, 2023 Category: Primary Care Authors: Elisabet Robert Marchal, Beatriz Roca Comella, Sandra Rodriguez Veret, Laia S ánchez Paniagua, Maria Jose Gamundi Rodriguez Tags: Abstract ID: 304 Source Type: research

Bryostatin-1: a promising compound for neurological disorders
The central nervous system (CNS) is the most complex system in human body, and there is often a lack of effective treatment strategies for the disorders related with CNS. Natural compounds with multiple pharmacological activities may offer better options because they have broad cellular targets and potentially produce synergic and integrative effects. Bryostatin-1 is one of such promising compounds, a macrolide separated from marine invertebrates. Bryostatin-1 has been shown to produce various biological activities through binding with protein kinase C (PKC). In this review, we mainly summarize the pharmacological effects ...
Source: Frontiers in Pharmacology - June 7, 2023 Category: Drugs & Pharmacology Source Type: research

EPH32 The Epidemiology of Fragile X Syndrome in the United Kingdom
In this study we aimed to explore the epidemiology of FXS from the primary care perspective of the United Kingdom. (Source: Value in Health)
Source: Value in Health - June 1, 2023 Category: International Medicine & Public Health Authors: L. Bitchell, C. Morgan, B. Jones, A. Stanfield, A. McKechanie, A. Cooper, P. Conway Source Type: research

EE288 The Healthcare Resource Utilisation Associated with Managing Fragile X Syndrome
Fragile X syndrome (FXS) is a genetic condition associated with cognitive impairment. Little is known concerning the healthcare burden of this population from a United Kingdom perspective. We wished to address this data gap. (Source: Value in Health)
Source: Value in Health - June 1, 2023 Category: International Medicine & Public Health Authors: L. Bitchell, C. Morgan, B. Jones, A. McKechanie, A. Stanfield, A. Cooper, P. Conway Source Type: research

Genes, Vol. 14, Pages 1148: Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023
own Fragile X syndrome (FXS) is the leading single-gene cause of inherited intellectual disability and autism [...] (Source: Genes)
Source: Genes - May 25, 2023 Category: Genetics & Stem Cells Authors: David E. Godler William T. Brown Tags: Editorial Source Type: research

Uncovering the Significance of STEP61 in Alzheimer's Disease: Structure, Substrates, and Interactome
Cell Mol Neurobiol. 2023 May 23. doi: 10.1007/s10571-023-01364-2. Online ahead of print.ABSTRACTSTEP (STriatal-Enriched Protein Tyrosine Phosphatase) is a brain-specific phosphatase that plays an important role in controlling signaling molecules involved in neuronal activity and synaptic development. The striatum is the main location of the STEP enzyme. An imbalance in STEP61 activity is a risk factor for Alzheimer's disease (AD). It can contribute to the development of numerous neuropsychiatric diseases, including Parkinson's disease (PD), schizophrenia, fragile X syndrome (FXS), Huntington's disease (HD), alcoholism, cer...
Source: Cellular and Molecular Neurobiology - May 23, 2023 Category: Cytology Authors: Pritam V Bagwe Radni D Deshpande Gabor Juhasz Sadhana Sathaye Shreerang V Joshi Source Type: research

Fragile X Messenger Ribonucleoprotein 1 (FMR1), a novel inhibitor of osteoblast/osteocyte differentiation, regulates bone formation, mass, and strength in young and aged male and female mice
Bone Res. 2023 May 17;11(1):25. doi: 10.1038/s41413-023-00256-x.ABSTRACTFragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and craniofacial abnormalities. Four-month-old (mo) male mice with deletion of the FMR1 gene exhibit a mild increase in cortical and cancellous femoral bone mass. However, consequences of absence of FMR1 in bone of young/aged male/female mice and the cellular basis of the skeletal phenotype remain unknown. We found that absence of FMR1 results in improved bone properties with higher bone mineral density in b...
Source: Cell Research - May 16, 2023 Category: Cytology Authors: Padmini Deosthale Juli án Balanta-Melo Amy Creecy Chongshan Liu Alejandro Marcial Laura Morales Julita Cridlin Sylvia Robertson Chiebuka Okpara David J Sanchez Mahdi Ayoubi Joaqu ín N Lugo Christopher J Hernandez Joseph M Wallace Lilian I Plotkin Source Type: research

Genes, Vol. 14, Pages 1060: Expression of Transposable Elements in the Brain of the Drosophila melanogaster Model for Fragile X Syndrome
This study highlights that flies kept in isolation, defined as asocial conditions, experience activation of transposable elements. In all, these results suggest a role for transposons in the pathogenesis of certain neurological alterations in Fragile X as well as in abnormal social behaviors. (Source: Genes)
Source: Genes - May 9, 2023 Category: Genetics & Stem Cells Authors: Maria Dolores De Donno Antonietta Puricella Simona D ’Attis Valeria Specchia Maria Pia Bozzetti Tags: Brief Report Source Type: research

Differential Effects of a Behavioral Treatment Probe on Social Gaze Behavior in Fragile X Syndrome and Non-Syndromic Autism Spectrum Disorder
J Autism Dev Disord. 2023 May 4. doi: 10.1007/s10803-023-05919-6. Online ahead of print.ABSTRACTThe purpose of this study was to examine potential differences in social learning between individuals with fragile X syndrome (FXS), the leading known inherited cause of intellectual disability, and individuals with non-syndromic autism spectrum disorder (ASD). Thirty school-aged males with FXS and 26 age and symptom-matched males with non-syndromic ASD, were administered a behavioral treatment probe designed to improve levels of social gaze during interactions with others. The treatment probe was administered by a trained behav...
Source: Journal of Autism and Developmental Disorders - May 4, 2023 Category: Psychiatry Authors: Scott S Hall Tobias C Britton Source Type: research