Functional changes of AMPA responses in human induced pluripotent stem cell-derived neural progenitors in fragile X syndrome
We examined functional maturation of the excitatory transmission system in FXS by investigating the response of FXS patient–derived neural progenitor cells to the glutamate analog (AMPA). Neural progenitors derived from induced pluripotent stem cell (iPSC) lines generated from boys with FXS had augmented intracellular Ca2+ responses to AMPA and kainate that were mediated by Ca2+-permeable AMPA receptors (CP-AMPARs) lacking the GluA2 subunit. Together with the enhanced differentiation of glutamate-responsive cells, the proportion of CP-AMPAR and N-methyl-d-aspartate (NMDA) receptor–coexpressing cells was increas...
Source: Signal Transduction Knowledge Environment - January 16, 2018 Category: Science Authors: Achuta, V. S., Möykkynen, T., Peteri, U.-K., Turconi, G., Rivera, C., Keinänen, K., Castren, M. L. Tags: STKE Research Articles Source Type: news
What Products Will Ultimately Win in Diagnostics?
It turns out there are actually several classes of diagnostic technologies that seem like they are really hot right now, but are actually overhyped, according to a panel of laboratory experts who addressed the subject during the recent J.P. Morgan Healthcare Conference in San Francisco, CA.
Perhaps one of the hottest topics that have emerged in diagnostics over the past few years is liquid biopsy and while that technology is finding its way into hospital laboratories for certain applications, Nick Papadopoulos, a professor at Johns Hopkins University, said that in early detection of cancer, at least, liquid biopsy is stil...
Source: MDDI - January 15, 2018 Category: Medical Devices Authors: Amanda Pedersen Tags: IVD Source Type: news
Main Line pharma company developing synthetic cannabinoid therapies narrows its focus
The companies will concentrate on developing treatments for Fragile X syndrome, epilepsy, Tourette's and other neurological and psychiatric disorders. (Source: bizjournals.com Health Care News Headlines)
Source: bizjournals.com Health Care News Headlines - January 4, 2018 Category: Health Management Authors: John George Source Type: news
Brainstem changes underlie sound sensitivity in fragile X mouse model
(Society for Neuroscience) Developmental changes in the brainstem driven by fragile X syndrome (FXS) -- a condition that often co-occurs with autism spectrum disorder in humans -- may underlie the hypersensitivity to sound observed in both humans and a mouse model of the disorder, according to animal research published in eNeuro. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 26, 2017 Category: International Medicine & Public Health Source Type: news
Study finds link between fragile X syndrome gene and dysregulated tissue growth
(Indiana University) A study led by Indiana University researchers found a previously undetected link between the gene that causes fragile X syndrome and increased tissue growth in the intestines of fruit flies modified to model the disease. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - December 5, 2017 Category: International Medicine & Public Health Source Type: news
Selective PDE4D inhibitor shows potential to treat Fragile X autism spectrum disorder
(Kureczka/Martin Associates) New research suggests the potential utility of BPN14770, a selective PDE4D inhibitor, in the treatment of Fragile X syndrome (FXS) and possibly other autism spectrum disorders. Daily BPN14770 dosing in a mouse Fragile X model showed reduce hyperarousal, improved social interactions and natural behaviors, as well as changes in neuronal dendrite structure. BPM14770 is currently in clinical testing by Tetra Discovery Partners as a prospective treatment for memory and cognitive problems associated with Alzheimer's disease. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 7, 2017 Category: International Medicine & Public Health Source Type: news
Reducing eIF4E-eIF4G interactions restores the balance between protein synthesis and actin dynamics in fragile X syndrome model mice
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism spectrum disorder. FXS is caused by silencing of the FMR1 gene, which encodes fragile X mental retardation protein (FMRP), an mRNA-binding protein that represses the translation of its target mRNAs. One mechanism by which FMRP represses translation is through its association with cytoplasmic FMRP-interacting protein 1 (CYFIP1), which subsequently sequesters and inhibits eukaryotic initiation factor 4E (eIF4E). CYFIP1 shuttles between the FMRP-eIF4E complex and the Rac1–Wave regulatory complex, thereby connecting translati...
Source: Signal Transduction Knowledge Environment - November 7, 2017 Category: Science Authors: Santini, E., Huynh, T. N., Longo, F., Koo, S. Y., Mojica, E., DAndrea, L., Bagni, C., Klann, E. Tags: STKE Research Articles Source Type: news
Aberrant Rac1-cofilin signaling mediates defects in dendritic spines, synaptic function, and sensory perception in fragile X syndrome
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disabilities and a leading cause of autism. FXS is caused by a trinucleotide expansion in the gene FMR1 on the X chromosome. The neuroanatomical hallmark of FXS is an overabundance of immature dendritic spines, a factor thought to underlie synaptic dysfunction and impaired cognition. We showed that aberrantly increased activity of the Rho GTPase Rac1 inhibited the actin-depolymerizing factor cofilin, a major determinant of dendritic spine structure, and caused disease-associated spine abnormalities in the somatosensory cortex of FXS model mice. Inc...
Source: Signal Transduction Knowledge Environment - November 7, 2017 Category: Science Authors: Pyronneau, A., He, Q., Hwang, J.-Y., Porch, M., Contractor, A., Zukin, R. S. Tags: STKE Research Articles Source Type: news
Neuronal activity drives FMRP- and HSPG-dependent matrix metalloproteinase function required for rapid synaptogenesis
Matrix metalloproteinase (MMP) functions modulate synapse formation and activity-dependent plasticity. Aberrant MMP activity is implicated in fragile X syndrome (FXS), a disease caused by the loss of the RNA-binding protein FMRP and characterized by neurological dysfunction and intellectual disability. Gene expression studies in Drosophila suggest that Mmps cooperate with the heparan sulfate proteoglycan (HSPG) glypican co-receptor Dally-like protein (Dlp) to restrict trans-synaptic Wnt signaling and that synaptogenic defects in the fly model of FXS are alleviated by either inhibition of Mmp or genetic reduction of Dlp. We...
Source: Signal Transduction Knowledge Environment - November 7, 2017 Category: Science Authors: Dear, M. L., Shilts, J., Broadie, K. Tags: STKE Research Articles Source Type: news
Special issue: Fragile X syndrome
In this issue of Science Signaling, three papers uncover molecular mechanisms of neurological dysfunction in animal models of fragile X syndrome. (Source: Signal Transduction Knowledge Environment)
Source: Signal Transduction Knowledge Environment - November 7, 2017 Category: Science Authors: Ferrarelli, L. K. Tags: STKE Editors ' Choice Source Type: news
Positive Topline Results for Cannabinoid Gel in Fragile X Positive Topline Results for Cannabinoid Gel in Fragile X
An investigational transdermal cannabinoid gel led to significant and clinically meaningful improvement in anxiety and difficult behaviors in a phase 2 study of children with fragile X syndrome.Medscape Medical News (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - September 29, 2017 Category: Consumer Health News Tags: Psychiatry News Source Type: news
Why Zynerba's stock soared 62% this week
Zynerba's stock price closed up 62 percent Thursday, at $9.44 per share, after the specialty pharmaceutical company posted positive study results from a midstage clinical trial of its experimental treatment for a rare developmental disorder.
The Devon company is attempting to develop synthetic cannabinoid-based therapies for a variety of disorders.
Zynerba said in a study of its ZYN002 cannabidiol gel in pediatric and adolescent patients with Fragile X syndrome that the new drug candidates met… (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - September 29, 2017 Category: American Health Authors: John George Source Type: news
Zynerba's stock on a high as cannabis-based drug succeeds in trial
(Reuters) - Zynerba Pharmaceuticals Inc said on Thursday its cannabis-based gel met the main goal in a mid-stage study of patients with Fragile X syndrome, a genetic disorder that causes learning disabilities in adolescents and children. (Source: Reuters: Health)
Source: Reuters: Health - September 28, 2017 Category: Consumer Health News Tags: healthNews Source Type: news
Zynerba's cannabis-based gel meets main goal in mid-stage study
(Reuters) - Zynerba Pharmaceuticals Inc said on Thursday its cannabis-based gel achieved the main goal in a mid-stage study of patients with Fragile X syndrome, a genetic disorder that causes learning disabilities. (Source: Reuters: Health)
Source: Reuters: Health - September 28, 2017 Category: Consumer Health News Tags: healthNews Source Type: news
Zynerba's cannabis-based gel succeeds in mid-stage study
(Reuters) - Zynerba Pharmaceuticals Inc said on Thursday its cannabis-based gel succeeded in a mid-stage study of patients with Fragile X syndrome, a genetic disorder that causes learning disabilities. (Source: Reuters: Health)
Source: Reuters: Health - September 28, 2017 Category: Consumer Health News Tags: healthNews Source Type: news
