Translational modulator ISRIB alleviates synaptic and behavioral phenotypes in Fragile X syndrome by Rochelle L. Coulson, Valentina Frattini, Caitlin E. Moyer, Jennifer Hodges, Peter Walter, Philippe Mourrain, Yi Zuo, Gordon X. Wang

“…Summary: Fragile X syndrome (FXS) is caused by the loss of fragile X messenger ribonucleoprotein (FMRP), a translational regulator that binds the transcripts of proteins involved in synaptic function and plasticity. …”
Get full text

Pirenperone relieves the symptoms of fragile X syndrome in Fmr1 knockout mice by Yujeong Kim, Se Jin Jeon, Edson Luck Gonzales, Dongpil Shin, Chilly Gay Remonde, TaeJin Ahn, Chan Young Shin

“…Abstract Fragile X syndrome (FXS) is a neurodevelopmental disorder that is caused by the loss of Fragile X-linked mental retardation protein (FMRP), an RNA binding protein that can bind and recognize different RNA structures and regulate the target mRNAs’ translation involved in neuronal synaptic plasticity. …”
Get full text

Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions by Snow Bach, Snow Bach, Stephen Shovlin, Michael Moriarty, Barbara Bardoni, Daniela Tropea, Daniela Tropea, Daniela Tropea

Subjects: Get full text

Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives by 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

“…Caregiver reports, clinical observations, and diagnostic assessments indicate that most individuals with fragile X syndrome experience high levels of chronic anxiety. …”
Get full text

Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome by Carrie R. Jonak, Ernest V. Pedapati, Lauren M. Schmitt, Samantha A. Assad, Manbir S. Sandhu, Lisa DeStefano, Lauren Ethridge, Khaleel A. Razak, John A. Sweeney, Devin K. Binder, Craig A. Erickson

Subjects: “…Fragile X syndrome…”
Get full text

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome by Berry-Kravis, Elizabeth M., Lindemann, Lothar, Jønch, Aia E., Apostol, George, Bear, Mark, Carpenter, Randall L, Crawley, Jacqueline N., Curie, Aurore, Des Portes, Vincent, Hossain, Farah, Gasparini, Fabrizio, Gomez-Mancilla, Baltazar, Hessl, David, Loth, Eva, Scharf, Sebastian H., Wang, Paul P., Von Raison, Florian, Hagerman, Randi, Spooren, Will, Jacquemont, Sébastien

“…Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. …”
Get full text

Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome? by Lohith, Talakad G., Osterweil, Emily, Fujita, Masahiro, Jenko, Kimberly J., Bear, Mark, Innis, Robert B.

“…Abstract Background: Fragile X syndrome (FXS) is a common inherited form of intellectual disability caused by loss of function of the fragile X mental retardation protein. …”
Get full text
Get full text

Executive control in visual search for multiple targets in toddlers with Fragile X Syndrome by Scerif, G, Wilding, J, Cornish, K, Driver, J, Humphreys, K, Karmiloff-Smith, A

Unusual inheritance patterns due to dynamic mutation in fragile X syndrome - Discussion by Weiss, K, Sutherland, G, Harper, P, Bodmer, W, Bowcock, A, Freimer, N, Kidd, K, Chakraborty, R, Armour, J, Donnelly, P, Clark, A, Chakravarti, A, Weatherall, D, Edwards, J, Balmain, A, Zechner, R

Early attention difficulties in fragile X syndrome: Underlying mechanisms and developmental trajectories by Scerif, G, Cornish, K, Wilding, J, Driver, J, Karmiloff-Smith, A

Altered frontal connectivity as a mechanism for executive function deficits in fragile X syndrome by Lauren M. Schmitt, Joy Li, Rui Liu, Paul S. Horn, John A. Sweeney, Craig A. Erickson, Ernest V. Pedapati

Subjects: “…Fragile X syndrome…”
Get full text

The Report on 2 Cases of Fragile X Syndrome Comorbid with Attention Deficit/Hyperactivity Disorder by Katayoun Khoushabi, Firouzeh Sajedi

Subjects: “…Fragile X syndrome…”
Get full text

Glycogen synthase kinase-3: A promising therapeutic target for Fragile X Syndrome by Marjelo M. Mines, Richard Scott Jope

Subjects: “…Fragile X Syndrome…”
Get full text

Diagnosis of the fragile X syndrome in males using methylation-specific PCR of the FMRI locus by Sérgio D.J. Pena, Rosane Sturzeneker

“…Because of its simplicity and high efficiency, methylation-specific PCR may become the method of choice for the diagnosis of the fragile X syndrome in mentally retarded males.<br>Nós desenvolvemos uma técnica não-isotópica baseada na PCR para a identificação de mutações completas da síndrome do X-frágil em homens. …”
Get full text

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases by Dragana Protic, Elber Y. Aydin, Flora Tassone, Maria M. Tan, Randi J. Hagerman, Andrea Schneider

Subjects: Get full text

Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism by Carla A. Wall, Abigail L. Hogan, Elizabeth A. Will, Samuel McQuillin, Bridgette L. Kelleher, Jane E. Roberts

Subjects: “…Fragile X syndrome…”
Get full text

Altered dendritic spine function and integration in a mouse model of fragile X syndrome by Sam A. Booker, Aleksander P. F. Domanski, Owen R. Dando, Adam D. Jackson, John T. R. Isaac, Giles E. Hardingham, David J. A. Wyllie, Peter C. Kind

“…Fragile X syndrome and autism spectrum disorders are associated with circuit hyperexcitability, however, its cellular and synaptic bases are not well understood. …”
Get full text

Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome by Cara J. Westmark, Chad Kniss, Emmanuel Sampene, Angel Wang, Amie Milunovich, Kelly Elver, David Hessl, Amy Talboy, Jonathon Picker, Barbara Haas-Givler, Amy Esler, Andrea L. Gropman, Ryan Uy, Craig Erickson, Milen Velinov, Nicole Tartaglia, Elizabeth M. Berry-Kravis

Subjects: Get full text

A mouse model of the human Fragile X syndrome I304N mutation. by Julie B Zang, Elena D Nosyreva, Corinne M Spencer, Lenora J Volk, Kiran Musunuru, Ru Zhong, Elizabeth F Stone, Lisa A Yuva-Paylor, Kimberly M Huber, Richard Paylor, Jennifer C Darnell, Robert B Darnell

“…To address these issues, we have generated a new Fragile X Syndrome mouse model in which the endogenous Fmr1 gene harbors the I304N mutation. …”
Get full text

Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome by Lena Constantin, Rebecca E. Poulsen, Leandro A. Scholz, Itia A. Favre-Bulle, Michael A. Taylor, Biao Sun, Geoffrey J. Goodhill, Gilles C. Vanwalleghem, Ethan K. Scott

Subjects: “…Fragile X syndrome…”
Get full text