Results 51 to 60 of about 7,199,374 (204)

Glycogen Synthase Kinase-3: Abnormalities and Therapeutic Potential in Fragile X Syndrome

, 2017
Recent advances in understanding the pathophysiological mechanisms contributing to fragile X syndrome (FXS) have increased optimism that drug interventions can provide significant therapeutic benefits.
Jope, Richard S, Richard S. Jope
core   +1 more source

Epigenetics of fragile X syndrome and fragile X-related disorders [PDF]

, 2019
The fragile X mental retardation 1 gene (FMR1)-related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism.
Amor, DJ, Kraan, CM, Godler, DE
core   +1 more source

International consensus recommendations for identifying malnutrition in children with neurological impairment

Developmental Medicine &Child Neurology, EarlyView.
Abstract Children with neurological impairment (CNI) are at increased risk of malnutrition because of functional, medical, and socioeconomic challenges. However, difficulties in obtaining reliable anthropometric measurements and differences in body composition limit the usefulness of conventional nutritional indicators.
Sarah Vermilyea, Jodi Wolff, Gina Rempel, Jessie M. Hulst, Koen Huysentruyt, Mandy Neudecker, Denise Kennedy, Valérie Marchand, Erika Ochoa‐Ortiz, Richard D. Stevenson, Promoting International Collaboration for Nutrition in Neurological Impairment in Children (PICNNIC) Working Group, Lucinda Lourens, Mark Conaway, Tejas S. Desai, Mercedes Ruiz Brunner, Nathalia Sanchez Vargas, Valeria Martinez Tenorio, Kristie L. Bell, Claudio Romano, Richard Grossberg   +19 more
wiley   +1 more source

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy

Orphanet Journal of Rare Diseases
Background and objectives Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression.
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicari   +8 more
doaj   +1 more source

Altered steady state and activity-dependent de novo protein expression in fragile X syndrome

Nature Communications, 2019
Elevated protein synthesis, and dysregulated mGluR signalling, are documented in fragile X syndrome (FXS) Here the authors use proteomic analysis in a mouse model of FXS, and following mGluR5 stimulation, to identify potential biomarkers for the disease.
Heather Bowling, Aditi Bhattacharya, Guoan Zhang, Danyal Alam, Joseph Z. Lebowitz, Nathaniel Bohm-Levine, Derek Lin, Priyangvada Singha, Maggie Mamcarz, Rosemary Puckett, Lili Zhou, Sameer Aryal, Kevin Sharp, Kent Kirshenbaum, Elizabeth Berry-Kravis, Thomas A. Neubert, Eric Klann   +16 more
doaj   +1 more source

Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice

Nature Communications, 2021
The R138Q mutation in the Fragile X Mental Retardation 1 (FMR1) gene has been associated with Fragile X syndrome (FXS). Here, the authors present a Fmr1 R138Q Knock-In mouse model and show that R138Q mutation results in impaired long-term potentiation ...
Marta Prieto, Alessandra Folci, Gwénola Poupon, Sara Schiavi, Valeria Buzzelli, Marie Pronot, Urielle François, Paula Pousinha, Norma Lattuada, Sophie Abelanet, Sara Castagnola, Magda Chafai, Anouar Khayachi, Carole Gwizdek, Frédéric Brau, Emmanuel Deval, Maura Francolini, Barbara Bardoni, Yann Humeau, Viviana Trezza, Stéphane Martin   +20 more
doaj   +1 more source

GABAA Alpha 2,3 Modulation Improves Select Phenotypes in a Mouse Model of Fragile X Syndrome

Frontiers in Psychiatry, 2021
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability. FXS is caused by functional loss of the Fragile X Protein (FXP), also known as Fragile X Mental Retardation Protein (FMRP).
Tori L. Schaefer, Amy A. Ashworth, Durgesh Tiwari, Durgesh Tiwari, Madison P. Tomasek, Emma V. Parkins, Angela R. White, Andrew Snider, Matthew H. Davenport, Lindsay M. Grainger, Robert A. Becker, Chandler K. Robinson, Rishav Mukherjee, Michael T. Williams, Michael T. Williams, Jay R. Gibson, Kimberly M. Huber, Christina Gross, Christina Gross, Craig A. Erickson, Craig A. Erickson   +20 more
doaj   +1 more source

Factors Associated With Challenging Behaviour in People With Severe‐Profound Intellectual Disabilities: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Individuals with severe to profound intellectual disability (ID) exhibit high support needs and significant communication impairments and may present with challenging behaviours such as aggression, self‐injury and stereotypies. These behaviours can cause distress, hinder healthcare access and delivery and impair quality of life for ...
I. D. C. van Balkom, J. Cooke, A. G. de Cuba, E. Burkitt‐Wright, C. Gaasterland, M. Burdeus‐Olavarrieta   +5 more
wiley   +1 more source

Epilepsy and Fragile X Syndrome

, 2003
The seizure history of 136 patients with fragile X syndrome (FXS), (age range 2 to 51 years; 113 males and 23 females), were reviewed at RUSH-Presbyterian-St Luke’s Medical Center, Chicago ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

From wings to whiskers to stem cells: why every model matters in fragile X syndrome research

Journal of Neurodevelopmental Disorders
Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP).
Soraya O. Sandoval, Natasha M. Méndez-Albelo, Zhiyan Xu, Xinyu Zhao   +3 more
doaj   +1 more source