Hyperactive locomotion in a Drosophila model is a functional readout for the synaptic abnormalities underlying fragile X syndrome
We report that larval locomotion is augmented in a Drosophila FXS model. Genetic or pharmacological intervention on the BMPR2-LIMK pathway ameliorated the synaptic abnormality and locomotion phenotypes of FXS larvae, as well as hyperactivity in an FXS mouse model. Our study demonstrates that (i) the BMPR2-LIMK pathway is a promising therapeutic target for FXS and (ii) the locomotion phenotype of FXS larvae is a quantitative functional readout for the neuromorphological phenotype associated with FXS and is amenable to the screening novel FXS therapeutics. (Source: Signal Transduction Knowledge Environment)
Source: Signal Transduction Knowledge Environment - May 2, 2017 Category: Science Authors: Kashima, R., Redmond, P. L., Ghatpande, P., Roy, S., Kornberg, T. B., Hanke, T., Knapp, S., Lagna, G., Hata, A. Tags: STKE Research Resources Source Type: news
New connections: Treating fragile X syndrome
An in vivo drug screen can identify inhibitors of the signaling pathway that is activated in fragile X syndrome. (Source: Signal Transduction Knowledge Environment)
Source: Signal Transduction Knowledge Environment - May 2, 2017 Category: Science Authors: Ferrarelli, L. K. Tags: STKE Editors ' Choice Source Type: news
Ovid commences Phase I trial of OV101 to treat Angelman / Fragile X syndromes
Biopharmaceutical firm Ovid Therapeutics has commenced the Phase I clinical trial of OV101 for the treatment of adolescents with Angelman syndrome or Fragile X syndrome. (Source: Drug Development Technology)
Source: Drug Development Technology - April 10, 2017 Category: Pharmaceuticals Source Type: news
[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)
Source: Signal Transduction Knowledge Environment - April 4, 2017 Category: Science Authors: Nancy Gough (mailto:ngough at aaas.org) Source Type: news
Vencerx Therapeutics Announces Appointments of Robert H. Ring, Ph.D. as Chief Executive Officer and Jeffrey Stevenson as Chairman of the Board
NEW YORK, March 31, 2017 -- (Healthcare Sales & Marketing Network) -- Vencerx Therapeutics, a company focused on advancing treatments for neurodevelopmental disorders, today announced the appointments of Robert H. Ring, Ph.D. as Chief Executive Officer an... Biopharmaceuticals, Personnel Vencerx Therapeutics, Fragile X Syndrome (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - March 31, 2017 Category: Pharmaceuticals Source Type: news
Unique Characteristics of the X Chromosome and Related Disorders
This article reviews these unique characteristics and applies their guiding principles in a broad overview to Klinefelter syndrome, ornithine transcarbamylase (OTC) deficiency, hemophilia, and fragile X syndrome. (Source: NeoReviews recent issues)
Source: NeoReviews recent issues - March 31, 2017 Category: Pediatrics Authors: Shah, K., DeRemigis, A., Hageman, J. R., Sriram, S., Waggoner, D. Tags: Pediatric Drug Labeling Update Articles Source Type: news
Take The Autism Challenge
Like many people with autism, my son Danny enjoys Pixar movies and he likes seeing them over and over. Recently, one exchange from the original Toy Story movie started going through my mind.
Buzz: Sheriff, this is no time to panic.
Woody: This is the perfect time to panic!
For me, it’s the perfect time to panic, because Danny turns 21 next week and this is his last year of school. Since he was diagnosed with autism at the age of three, I hoped that he would be able to live and work independently when he grew up. I fought for him to be in mainstream classrooms with a shadow teacher when he was younger. And Dann...
Source: Healthy Living - The Huffington Post - March 30, 2017 Category: Consumer Health News Source Type: news
Treatment window for fragile x likely doesn't close after childhood
(Drexel University) A Drexel University-led study looked into human and rat brain samples and found that the biological structures potentially contributing to Fragile X syndrome are present in adult brains -- something that mouse samples did not show. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 20, 2017 Category: Global & Universal Source Type: news
Promising lead reduces autism symptoms and more
Fragile X syndrome is the most common cause of autism. A team of researchers, however, has provided a promising lead in battling this disease. The scientists identified a single protein that appears to be the culprit in causing many behavioral symptoms as well as molecular and cellular abnormalities related to Fragile X. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - March 8, 2017 Category: Science Source Type: news
Researchers find promising lead that reduces autism symptoms and more
(Michigan State University) Fragile X syndrome is the most common cause of autism. A team of researchers led by Michigan State University, however, has provided a promising lead in battling this disease. In the current issue of Nature Communications, the scientists identified a single protein that appears to be the culprit in causing many behavioral symptoms as well as molecular and cellular abnormalities related to Fragile X. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 8, 2017 Category: Global & Universal Source Type: news
Parenting significantly impacts development of children with Fragile X Syndrome
A longitudinal study of children with Fragile X Syndrome, the leading genetic cause of autism, and their mothers found that sustained maternal responsivity had a significant positive impact on the children ' s development, even mitigating declines often reported in middle childhood. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - February 14, 2017 Category: Science Source Type: news
Early brain changes in fragile X syndrome, study shows
A new study is giving researchers a first look at the early stages of brain development in patients with Fragile X syndrome, a disorder that causes mild to severe intellectual disability and is the most common genetic cause of autism spectrum disorder. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - January 31, 2017 Category: Science Source Type: news
Cannabis Drug Company Zynerba Is Gearing Up For A Big Summer
Zynerba is targeting adult epilepsy, arthritis and Fragile X Syndrome with its synthetic cannabis drugs. Next milestones are expected this summer and equity analysts are on board. (Source: Forbes.com Healthcare News)
Source: Forbes.com Healthcare News - January 26, 2017 Category: Pharmaceuticals Authors: Debra Borchardt, Contributor Tags: NASDAQ:ZYNE NASDAQ:GWPH Source Type: news
N.C. babies to get free testing for potentially fatal condition
As early as next year, thousands of North Carolina infants could be tested for symptoms of conditions that could lead to death or disability.
The National Center for Advancing Translational Sciences at the National Institutes of Health has awarded funding to a program that will provide free elective genetic testing for spinal muscular atrophy as well as fragile X syndrome in North Carolina infants.
Spinal muscular atrophy “is the No. 1 genetic cause of death for infants,” according to nonprofit… (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - January 26, 2017 Category: American Health Authors: Jennifer Henderson Source Type: news
Annette Karmiloff-Smith obituary
Neuroscientist who provided fresh insights into our development as individualsWhat is the origin of the unique and complex behaviours that our species are capable of? Is it nature or nurture? How is human cognition – our memory, language, numerical abilities – organised? How do developmental disorders occur? These age-old questions have puzzled – and deeply divided – scientists for hundreds of years. Over the course of more than four decades, research by the developmental neuroscientistAnnette Karmiloff-Smith, who has died aged 78, provided key insights that challenged the traditional answers, and led to a new unde...
Source: Guardian Unlimited Science - January 26, 2017 Category: Science Authors: Jeffrey Elman and Lorraine Tyler Tags: Neuroscience Psychology Genetics Biology Down's syndrome Health Society Alzheimer's UK news Source Type: news
