Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome
ConclusionsOverall, we noted synchronized target engagement of RBAC on resting state electrophysiology, in particular the reduction of aberrant high frequency gamma activity, across species in FXS. This finding holds promise for translational medicine approaches to drug development for FXS, synchronizing treatment study across species using well-established EEG biological markers in this field.Trial registrationThe human experiments are registered under NCT02998151. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 27, 2022 Category: Neurology Source Type: research
Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat
CONCLUSIONS: The expression levels of the isoforms vary within each follicular stage but not between different stages of folliculogenesis. Importantly, we identify for the first time in rat, an isoform that contains exon 12 and two isoforms, one that includes and one that excludes exon 14 and use the third acceptor site in exon 15.IMPLICATIONS: Characterisation of the different FMR1 variants expressed during folliculogenesis will help to understand the potential distinct cellular roles of each of them and the possible implication in the development of FXPOI.PMID:36116785 | DOI:10.1071/RD22059 (Source: Reproduction, Fertility, and Development)
Source: Reproduction, Fertility, and Development - September 18, 2022 Category: Reproduction Medicine Authors: Ianina C Ferder Luc ía D Espeche Carlos D Bruque Fernanda Parborell Marta Tesone Liliana Dain Source Type: research
Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat
CONCLUSIONS: The expression levels of the isoforms vary within each follicular stage but not between different stages of folliculogenesis. Importantly, we identify for the first time in rat, an isoform that contains exon 12 and two isoforms, one that includes and one that excludes exon 14 and use the third acceptor site in exon 15.IMPLICATIONS: Characterisation of the different FMR1 variants expressed during folliculogenesis will help to understand the potential distinct cellular roles of each of them and the possible implication in the development of FXPOI.PMID:36116785 | DOI:10.1071/RD22059 (Source: Reproduction, Fertility, and Development)
Source: Reproduction, Fertility, and Development - September 18, 2022 Category: Reproduction Medicine Authors: Ianina C Ferder Luc ía D Espeche Carlos D Bruque Fernanda Parborell Marta Tesone Liliana Dain Source Type: research
Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat
CONCLUSIONS: The expression levels of the isoforms vary within each follicular stage but not between different stages of folliculogenesis. Importantly, we identify for the first time in rat, an isoform that contains exon 12 and two isoforms, one that includes and one that excludes exon 14 and use the third acceptor site in exon 15.IMPLICATIONS: Characterisation of the different FMR1 variants expressed during folliculogenesis will help to understand the potential distinct cellular roles of each of them and the possible implication in the development of FXPOI.PMID:36116785 | DOI:10.1071/RD22059 (Source: Reproduction, Fertility, and Development)
Source: Reproduction, Fertility, and Development - September 18, 2022 Category: Reproduction Medicine Authors: Ianina C Ferder Luc ía D Espeche Carlos D Bruque Fernanda Parborell Marta Tesone Liliana Dain Source Type: research
Genes, Vol. 13, Pages 1666: The Impact of the COVID-19 Pandemic on School-Aged Children with Fragile X Syndrome
This study surveyed parent perspectives of the impact on 33 school-aged children with FXS across daily living skills, education, therapies, behaviors, health visits, and mask wearing. Academic performance was perceived to have decreased in most of the children (58%). Students in online school had the most reports of decline and those in person had the most reported improvement. Parents were significantly more satisfied with services that remained in person compared to those delivered online or in hybrid settings. Additionally, depression (75%), sleep problems (80%), attention problems (73%), and social skills (61%) were re...
Source: Genes - September 17, 2022 Category: Genetics & Stem Cells Authors: Hailey Silver Hilary Rosselot Rebecca Shaffer Reymundo Lozano Tags: Article Source Type: research
Genes, Vol. 13, Pages 1660: Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives
Farmer
David Hessl
Caregiver reports, clinical observations, and diagnostic assessments indicate that most individuals with fragile X syndrome experience high levels of chronic anxiety. However, anxiety is a challenging endpoint for outcome measurement in FXS because most individuals cannot reliably report internal emotional or body states. A comprehensive survey of the presence, frequency, and duration of anxiety-related symptoms and questions to elicit open-ended responses was completed by caregivers of 456 individuals with FXS, ages 2–81 years (87 female, 369 male) and 24 female and 2 male FXS self-...
Source: Genes - September 16, 2022 Category: Genetics & Stem Cells Authors: Reymundo Lozano Talia Thompson Jayne Dixon-Weber Craig A. Erickson Elizabeth Berry-Kravis Sara Williams Elizabeth Smith Jean A. Frazier Hilary Rosselot Cristan Farmer David Hessl Tags: Article Source Type: research
Genes, Vol. 13, Pages 1654: Exploring Parents & rsquo; Concerns Regarding Long-Term Support and Living Arrangements for Their Children with Fragile X Syndrome
Genes, Vol. 13, Pages 1654: Exploring Parents’ Concerns Regarding Long-Term Support and Living Arrangements for Their Children with Fragile X Syndrome
Genes doi: 10.3390/genes13091654
Authors:
Kaylynn Shuleski
Laura Zalles
Reymundo Lozano
Given limited data regarding future planning specific to Fragile X Syndrome (FXS) individuals and the growing population of individuals within this community, this study sought to explore the concerns and challenges caregivers of individuals affected by FXS encounter when considering long-term support plans. This involved identifying the reasons individuals with FXS ...
Source: Genes - September 15, 2022 Category: Genetics & Stem Cells Authors: Kaylynn Shuleski Laura Zalles Reymundo Lozano Tags: Article Source Type: research
Lysine acetylome profiling in mouse hippocampus and its alterations upon FMRP deficiency linked to abnormal energy metabolism
J Proteomics. 2022 Sep 8:104720. doi: 10.1016/j.jprot.2022.104720. Online ahead of print.ABSTRACTLoss of fragile X retardation protein (FMRP) leads to fragile X syndrome (FXS), a common cause of inherited intellectual disability. Protein lysine acetylation (K-ac), a reversible post-translational modification of proteins, is associated with the regulation of brain development and neuropathies. However, a comprehensive hippocampal K-ac protein profile in response to FMRP deficiency has not been reported until now. Using LC-MS/MS to analyze the enriched K-ac peptides, this study identified 1629 K-ac hits across 717 proteins i...
Source: Journal of Proteomics - September 11, 2022 Category: Biochemistry Authors: Yue-Ying Wu Cui Yang Hua-Juan Yan Ping Lu Li Zhang Weng-Cai Feng Yue-Sheng Long Source Type: research
ADHD and ASD symptoms in young males with fragile X syndrome: associations with early trajectories of inhibitory control
Child Neuropsychol. 2022 Sep 9:1-27. doi: 10.1080/09297049.2022.2120605. Online ahead of print.ABSTRACTInhibitory control (IC), the ability to suppress inappropriate responses, emerges late in the first year of life and improves across typical development, concurrent with brain maturation. The development of IC is critical to various social-emotional and behavioral functions, with IC difficulties being linked to numerous neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Fragile X syndrome (FXS) is a single-gene disorder characterized by IC difficulti...
Source: Child Neuropsychology - September 9, 2022 Category: Child Development Authors: Erin Hunt Abigail Hogan Elizabeth A Will Jane E Roberts Source Type: research
ADHD and ASD symptoms in young males with fragile X syndrome: associations with early trajectories of inhibitory control
Child Neuropsychol. 2022 Sep 9:1-27. doi: 10.1080/09297049.2022.2120605. Online ahead of print.ABSTRACTInhibitory control (IC), the ability to suppress inappropriate responses, emerges late in the first year of life and improves across typical development, concurrent with brain maturation. The development of IC is critical to various social-emotional and behavioral functions, with IC difficulties being linked to numerous neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Fragile X syndrome (FXS) is a single-gene disorder characterized by IC difficulti...
Source: Child Neuropsychology - September 9, 2022 Category: Child Development Authors: Erin Hunt Abigail Hogan Elizabeth A Will Jane E Roberts Source Type: research
ADHD and ASD symptoms in young males with fragile X syndrome: associations with early trajectories of inhibitory control
Child Neuropsychol. 2022 Sep 9:1-27. doi: 10.1080/09297049.2022.2120605. Online ahead of print.ABSTRACTInhibitory control (IC), the ability to suppress inappropriate responses, emerges late in the first year of life and improves across typical development, concurrent with brain maturation. The development of IC is critical to various social-emotional and behavioral functions, with IC difficulties being linked to numerous neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Fragile X syndrome (FXS) is a single-gene disorder characterized by IC difficulti...
Source: Child Neuropsychology - September 9, 2022 Category: Child Development Authors: Erin Hunt Abigail Hogan Elizabeth A Will Jane E Roberts Source Type: research
