Results 41 to 50 of about 5,818,395 (361)

Activation of autophagy rescues synaptic and cognitive deficits in fragile X mice

Proceedings of the National Academy of Sciences of the United States of America, 2018
Significance Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and is a leading genetic cause of autism. The mammalian target of rapamycin (mTOR) complex 1 cascade is a central regulator of protein translation, cell ...
Jingqi Yan, M. Porch, Brenda Court-Vazquez, Michael V. L. Bennett, R. Zukin   +4 more
semanticscholar   +1 more source

Fragile X Syndrome Workshop

Pediatric Neurology Briefs, 2000
The proceedings of the 9th International Workshop on Fragile X Syndrome and X-Linked Mental Retardation, held in Strasbourg, France, are reported from the University Hospital of Leuven, Belgium.
J Gordon Millichap
doaj   +1 more source

Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. [PDF]

PLoS ONE, 2015
Over the last several years, evidence has accumulated that the GABAA receptor is compromised in animal models for fragile X syndrome (FXS), a common hereditary form of intellectual disability.
Charlotte D'Hulst, Inge Heulens, Nathalie Van der Aa, Karolien Goffin, Michel Koole, Kathleen Porke, Marc Van De Velde, Liesbeth Rooms, Wim Van Paesschen, Hilde Van Esch, Koen Van Laere, R Frank Kooy   +11 more
doaj   +1 more source

Fragile X mental retardation 1 gene enhances the translation of large autism-related proteins

Science, 2018
Fragile X and fragile translation in flies Mutations in the fragile X mental retardation 1 (FMR1) gene underlie fragile X syndrome and fragile X–associated primary ovarian insufficiency, which are prominent intellectual disability and reproductive ...
Ethan J. Greenblatt, A. Spradling
semanticscholar   +1 more source

Fragile male, not fragile-X [PDF]

Advances in Psychiatric Treatment, 2008
No doubt the fragile-X chromosome plays a small part in male disadvantage, but the point made in my review ([Kraemer, 2000][1]), referred to by [Branney & White (2008)][2], is that the male is biologically less resilient.
openaire   +2 more sources

A phase 1/2, open-label assessment of the safety, tolerability, and efficacy of transdermal cannabidiol (ZYN002) for the treatment of pediatric fragile X syndrome

Journal of Neurodevelopmental Disorders, 2019
Background Fragile X syndrome (FXS) is characterized by a range of developmental, neuropsychiatric, and behavioral symptoms that cause significant impairment in those with the disorder.
Helen Heussler, Jonathan Cohen, Natalie Silove, Nancy Tich, Marcel O. Bonn-Miller, Wei Du, Carol O’Neill, Terri Sebree   +7 more
doaj   +1 more source

Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders.

Annual Review of Medicine, 2019
Fragile X syndrome (FXS) is the most frequent inherited form of intellectual disability and autism spectrum disorder. Loss of the fragile X mental retardation protein, FMRP, engenders molecular, behavioral, and cognitive deficits in FXS patients ...
I. Gantois, J. Popić, A. Khoutorsky, N. Sonenberg   +3 more
semanticscholar   +1 more source

Closing the Gender Gap in Fragile X Syndrome: Review of Females with Fragile X Syndrome and Preliminary Research Findings

Brain Science, 2019
Fragile X syndrome (FXS) is a genetic condition known to increase the risk of cognitive impairment and socio-emotional challenges in affected males and females.
Kristi L. Bartholomay, C. H. Lee, J. Bruno, A. Lightbody, A. Reiss   +4 more
semanticscholar   +1 more source

Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome [PDF]

, 2012
Fragile X syndrome, the most commonly known genetic cause of autism, is due to loss of the fragile X mental retardation protein, which regulates signal transduction at metabotropic glutamate receptor-5 in the brain.
DiPatrizio, Nicholas V., Frick, Andreas, Ginger, Melanie, Henstridge, Christopher M., Jung, Kwang-Mook, Katona, Istvan, Lassalle, Olivier, Mackie, Ken, Manzoni, Olivier J., Martin, Henry, Neuhofer, Daniela, Piomelli, Daniele, Sepers, Marja   +12 more
core   +5 more sources

Fragile X syndrome [PDF]

Biological Psychiatry, 1995
Fragile X syndrome is the most important X-linked etiology of mental retardation and developmental disability currently known. Accumulating evidence also indicates that male and female carriers of the fragile X genetic abnormality demonstrate a relatively specific pattern of psychiatric disturbance.
Allan L. Reiss, L Freund
openaire   +6 more sources