Results 11 to 20 of about 8,261 (127)

Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons [PDF]

Journal of Neurodevelopmental Disorders
Background Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by loss of fragile X messenger ribonucleoprotein (FMRP). In most cases, this results from a CGG expansion exceeding 200 repeats in the 5’ untranslated region of the fragile X ...
Shaima M. Hourani, Kagistia Hana Utami, Sher Li Oh, Maija L. Castrén, Mahmoud A. Pouladi   +4 more
doaj   +2 more sources

Altered GnRH neuron and ovarian innervation characterize reproductive dysfunction linked to the Fragile X messenger ribonucleoprotein (Fmr1) gene mutation

Frontiers in Endocrinology, 2023
IntroductionMutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene cause Fragile X Syndrome, the most common monogenic cause of intellectual disability.
Carrie R Jonak, Iryna M Ethell, Djurdjica Coss   +2 more
exaly   +3 more sources

Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back

Biomolecules
Silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene and a consequent lack of FMR protein (FMRP) synthesis are associated with fragile X syndrome, one of the most common inherited intellectual disabilities.
Mohamed S Taha, Mohammad Reza Ahmadian, Ahmadian Mohammad Reza   +2 more
exaly   +3 more sources

SPG601-associated modulation of resting-state EEG and improvement in executive function in a fragile X syndrome randomized controlled crossover study [PDF]

Scientific Reports
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. Despite extensive research, no targeted treatments exist for the core symptoms of FXS.
Ernest V. Pedapati, Peter W. Vanderklish, Stella T. Sarraf, Sharron Gargosky, Meredith Nelson, Sarah Richter, Grace Westerkamp, Craig A. Erickson   +7 more
doaj   +2 more sources

Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome [PDF]

Journal of Neurodevelopmental Disorders
Background Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the expansion of a CGG repeat in the 5’UTR of the FMR1 (fragile X messenger ribonucleoprotein 1) gene. Healthy individuals possess a repeat 30–55 CGG units in length. Once the
Grace Farmiloe, Veronika Bejczy, Elisabetta Tabolacci, Rob Willemsen, Frank Jacobs   +4 more
doaj   +2 more sources

Associations between plasma 24(S)-hydroxycholesterol and neuropsychological profile in fragile X syndrome [PDF]

Journal of Lipid Research
Fragile X syndrome (FXS) is caused by mutations in the fragile X mental retardation 1 gene, characterized by low plasma cholesterol levels. Considering the essential role of brain cholesterol in signaling and synaptogenesis, it is important to screen for
Asma Laroui, Daniela Rojas, Sophie Bouhour, Mélodie Proteau-Lemieux, Luc Galarneau, Sérine Benachenhou, Armita Abolghasemi, Rosalie Plantefeve, Pierre-Luc Mallet, François Corbin, Jean-François Lepage, Artuela Çaku   +11 more
doaj   +2 more sources

Age-Related Decline in Dendritic Architecture of Hippocampal CA1 Principal Neurons in a Mouse Model of Fragile X Syndrome. [PDF]

Dev Neurobiol
ABSTRACT Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is associated with attention deficits, hyperactivity, anxiety, impulsivity, and repetitive behaviors. The disorder results from transcriptional silencing of the FMR1 gene, leading to loss of fragile X messenger ribonucleoprotein (FMRP), an RNA‐binding ...
Farooqi NNU, Nyengaard JR, Banke TG.
europepmc   +2 more sources

Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis. [PDF]

Ann Neurol
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Gupta C, Poudel A, Wang JY, Hagerman R, Espinal G, Famula J, Schneider A, Tassone F, Rivera SM, Chuah CN, Hessl D.   +10 more
europepmc   +2 more sources

Neurodevelopment and early pharmacological interventions in Fragile X Syndrome

Frontiers in Neuroscience, 2023
Fragile X Syndrome (FXS) is a neurodevelopmental disorder and the leading monogenic cause of autism and intellectual disability. For years, several efforts have been made to develop an effective therapeutic approach to phenotypically rescue patients from
Luis A. Milla, Lucia Corral, Jhanpool Rivera, Nolberto Zuñiga, Gabriela Pino, Alexia Nunez-Parra, Alexia Nunez-Parra, Christian A. Cea-Del Rio   +7 more
doaj   +1 more source

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family

Frontiers in Genetics, 2023
Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP ...
Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye   +7 more
doaj   +1 more source