Editors' Choice Impaired phagocytosis in Fragile X

Defects in phagocytosis underlie both neurological and immunological symptoms in a fly model of Fragile X syndrome.
Source: Signal Transduction Knowledge Environment - Category: Science Authors: Source Type: news

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Valeria Specchia, Antonietta Puricella, Simona D ’Attis, Serafina Massari, Angela Giangrande, Maria Pia Bozzetti
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Publication date: 5 February 2019Source: Cell Reports, Volume 26, Issue 6Author(s): Pernille Bülow, T.J. Murphy, Gary J. Bassell, Peter WennerSummaryCortical hyperexcitability is a hallmark of fragile X syndrome (FXS). In the Fmr1 knockout (KO) mouse model of FXS, cortical hyperexcitability is linked to sensory hypersensitivity and seizure susceptibility. It remains unclear why homeostatic mechanisms fail to prevent such activity. Homeostatic intrinsic plasticity (HIP) adjusts membrane excitability through regulation of ion channels to maintain activity levels following activity perturbation. Despite the critical role...
Source: Cell Reports - Category: Cytology Source Type: research
AbstractNeuronal calcium sensor 1 (NCS-1) is a high-affinity calcium-binding protein and its ubiquitous expression in the nervous system implies a wide range of functions. To date, it has been implicated in regulation of calcium channels in both axonal growth cones and presynaptic terminals, pre- and postsynaptic plasticity mechanisms, learning and memory behaviors, dopaminergic signaling, and axonal regeneration. This review summarizes these functions and relates them to several diseases in which NCS-1 plays a role, such as schizophrenia and bipolar disorder, X-linked mental retardation and fragile X syndrome, and spinal ...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
Publication date: Available online 10 December 2018Source: Reproductive BioMedicine OnlineAuthor(s): Lisa M Pastore, Mindy S Christianson, Bailey McGuinness, Kamaria Cayton Vaught, Jacqueline Y Maher, William G KearnsAbstractFMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of FMR1 on the success of fertility treatment is unclear. The effect of FMR1 CGG repeat lengths on IVF outcomes after ovarian stimulation was reviewed. PubMed was searched for studies on IVF-related outcomes reported by FMR1 trinucleotide rep...
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research
Increases noted in total absolute looking time, number of fixations to eye region while viewing faces
Source: The Doctors Lounge - Psychiatry - Category: Psychiatry Tags: Neurology, Pediatrics, Pharmacy, Psychiatry, Journal, Source Type: news
ConclusionsThese findings suggest fragile X syndrome social deficits center on social anxiety without the prominent reduction in social interest associated with autism spectrum disorder. Specifically designed eye tracking techniques clarify the nature of social deficits in fragile X syndrome and may have applications to improve phenotyping and evaluate interventions targeting social functioning impairments.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Abstract Sleep is a mysterious, developmentally regulated behavior fundamental for cognition in both adults and developing animals. A large number of studies offer a substantive body of evidence that demonstrates that the ontogeny of sleep architecture parallels brain development. Sleep deprivation impairs the consolidation of learned tasks into long-term memories and likely links sleep to the neural mechanisms underlying memory and its physiological roots in brain plasticity. Consistent with this notion is the alarming frequency of sleep and circadian rhythm dysfunction in children with neurodevelopmental disorde...
Source: Neurobiology of Learning and Memory - Category: Neurology Authors: Tags: Neurobiol Learn Mem Source Type: research
Authors: Mahato PK, Ramsakha N, Ojha P, Gulia R, Sharma R, Bhattacharyya S Abstract Glutamate is a nonessential amino acid, known to act as a major excitatory neurotransmitter in the central nervous system. Glutamate transduces its signal by activating two types of receptors, viz., ionotropic glutamate receptors and metabotropic glutamate receptors (mGluRs). mGluR1 and mGluR5 are members of the group I mGluR family, and they belong to the G-protein-coupled receptor (GPCR) family. These receptors are involved in various forms of synaptic plasticity including learning and memory. Similar to many other GPCRs, traffick...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
ConclusionsLoss of FMRP results in a widespread coordinated systemic response that notably involves upregulation of protein translation in the liver, increased utilization of lipids, and significant changes in metabolic homeostasis. Our study unravels metabolic phenotypes in FXS and further supports the importance of translational regulation in the homeostatic control of systemic metabolism.Graphical abstract
Source: Molecular Metabolism - Category: Endocrinology Source Type: research
Publication date: Available online 15 January 2019Source: Progress in Neuro-Psychopharmacology and Biological PsychiatryAuthor(s): Saravana Babu Chidambaram, A.G. Rathipriya, Srinivasa Rao Bolla, Abid Bhat, Bipul Ray, Arehslly Marappa Mahalakshmi, Thamilarasan Manivasagam, Arokiasamy Justin Thenmozhi, Musthafa Mohamed Essa, Gilles J. Guillemin, Ramesh Chandra, Meena Kishore SakharkarAbstractDendritic spines are small, thin, specialized protrusions from neuronal dendrites, primarily localized in the excitatory synapses. Sophisticated imaging techniques revealed that dendritic spines are complex structures consisting of a de...
Source: Progress in Neuro Psychopharmacology and Biological Psychiatry - Category: Psychiatry Source Type: research
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