Results 31 to 40 of about 8,347 (127)

Rescue of sharp wave-ripples and prevention of network hyperexcitability in the ventral but not the dorsal hippocampus of a rat model of fragile X syndrome

Frontiers in Cellular Neuroscience, 2023
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by intellectual disability and is related to autism. FXS is caused by mutations of the fragile X messenger ribonucleoprotein 1 gene (Fmr1) and is associated with alterations ...
Leonidas J. Leontiadis, George Trompoukis, Giota Tsotsokou, Athina Miliou, Panagiotis Felemegkas, Costas Papatheodoropoulos   +5 more
doaj   +1 more source

Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues

Neurobiology of Disease
Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene that ...
Diana A. Abbasi, Elizabeth Berry-Kravis, Xinyu Zhao, Stephanie M. Cologna   +3 more
doaj   +1 more source

From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research

Biomedicines
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a major genetic contributor to autism spectrum disorder. It is caused by a CGG trinucleotide repeat expansion in the FMR1 gene, resulting in gene silencing and the
Mathijs B. van der Lei, R. Frank Kooy
doaj   +1 more source

Fmrp regulates neuronal balance in embryonic motor circuit formation

Frontiers in Neuroscience, 2022
Motor behavior requires the balanced production and integration of a variety of neural cell types. Motor neurons are positioned in discrete locations in the spinal cord, targeting specific muscles to drive locomotive contractions.
Chase M. Barker, Kaleb D. Miles, Kaleb D. Miles, Caleb A. Doll   +3 more
doaj   +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

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

Clinical Case Reports, 2023
Key Clinical Message A high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene surpassed our expectations into young adulthood.
Meg Shieh, Keren Amkraut, Gail A. Spiridigliozzi, Tatyana Adayev, Kaylea Nicholson, Allyn McConkie‐Rosell, Marie McDonald, Malinda Pennington, Siby Sebastian, Ave M. Lachiewicz   +9 more
doaj   +1 more source

Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome

Brain Sciences, 2022
The premutation expansion of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome has been linked to a range of clinical and subclinical features.
Darren R. Hocking, Danuta Z. Loesch, Paige Stimpson, Flora Tassone, Anna Atkinson, Elsdon Storey   +5 more
doaj   +1 more source

Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto, Suvarna S. Khadilkar, Rossella E. Nappi, Andrea R. Genazzani, Federica Frezet, Laura Cucinella, Hema Divakar, Panagiotis Anagnostis, Nick Panay   +8 more
wiley   +1 more source

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, EarlyView.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome

SAGE Open Medicine
Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The full
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tassone   +22 more
doaj   +1 more source