Results 31 to 40 of about 16,335 (162)

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP). [PDF]

Genes (Basel), 2016
The final product of FMR1 gene transcription, Fragile X Mental Retardation Protein 1 (FMRP), is an RNA binding protein that acts as a repressor of translation. FMRP is expressed in several tissues and plays important roles in neurogenesis, synaptic plasticity, and ovarian functions and has been implicated in a number of neuropsychological disorders ...
LaFauci G, Adayev T, Kascsak R, Brown WT.   +3 more
europepmc   +4 more sources

Cellular distribution of the fragile X mental retardation protein in the mouse brain. [PDF]

J Comp Neurol, 2017
ABSTRACTThe fragile X mental retardation protein (FMRP) plays an important role in normal brain development. Absence of FMRP results in abnormal neuronal morphologies in a selected manner throughout the brain, leading to intellectual deficits and sensory dysfunction in the fragile X syndrome (FXS). Despite FMRP importance for proper brain function, its
Zorio DA, Jackson CM, Liu Y, Rubel EW, Wang Y.   +4 more
europepmc   +4 more sources

Hair root FMRP expression for screening of fragile X full mutation females

Universa Medicina, 2016
The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome.
Lantip Rujito, Dwi Kustiani, Lies Anne Severijnen, Peter Hanzon, Sultana MH Faradz, Rob Willemsen   +5 more
doaj   +1 more source

Fmrp Interacts with Adar and Regulates RNA Editing, Synaptic Density and Locomotor Activity in Zebrafish.

PLoS Genetics, 2015
Fragile X syndrome (FXS) is the most frequent inherited form of mental retardation. The cause for this X-linked disorder is the silencing of the fragile X mental retardation 1 (fmr1) gene and the absence of the fragile X mental retardation protein (Fmrp).
Adi Shamay-Ramot, Khen Khermesh, Hagit T Porath, Michal Barak, Yishay Pinto, Chaim Wachtel, Alona Zilberberg, Tali Lerer-Goldshtein, Sol Efroni, Erez Y Levanon, Lior Appelbaum   +10 more
doaj   +1 more source

A quantitative homogeneous assay for fragile X mental retardation 1 protein [PDF]

Journal of Neurodevelopmental Disorders, 2013
Abstract Background Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome – an incurable neurological disorder characterized by mental retardation, anxiety, epileptic episodes and autism.
Schutzius, Gabi, Bleckmann, Dorothee, Kapps-Fouthier, Sandra, di Giorgio, Francesco, Gerhartz, Bernd, Weiss, Andreas   +5 more
openaire   +2 more sources

Micronutrient Status in Children Suffering From Anorexia Nervosa: A Cohort of 349 Patients in a Referral Center for Eating Disorders

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Anorexia nervosa (AN) is a serious illness in which more than half of all deaths are due to malnutrition. Critically low energy and protein intake are known causes of massive weight loss, whereas micronutrient deficiencies due to a low‐calorie food pattern remain poorly characterized in children with AN. Micronutrient deficiencies in
Zenaida Iordan, Diane Morfin, Marion Bernetiere, Marie Fauchet, Noël Peretti, Bérénice Segrestin, Pierre Poinsot   +6 more
wiley   +1 more source

The bantam microRNA is associated with drosophila fragile X mental retardation protein and regulates the fate of germline stem cells.

PLoS Genetics, 2009
Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP). We have previously demonstrated that dFmr1, the Drosophila ortholog of the fragile X mental retardation 1 gene, plays
Yingyue Yang, Shunliang Xu, Laixin Xia, Jun Wang, Shengmei Wen, Peng Jin, Dahua Chen   +6 more
doaj   +1 more source

N6‐Methyladenosine in Inflammatory Bowel Disease: An Emerging Regulator of Pathogenesis and a Novel Therapeutic Frontier

iMetaMed, EarlyView.
Inflammatory bowel disease (IBD) is a chronic inflammatory disorder of the intestine associated with an imbalance in intestinal homeostasis. m6A‐modifying enzymes, consisting of m6A writers, erasers and readers, plays a pivotal role in the pathogenesis and progression of IBD by affecting four intestinal barriers, including the intestinal mechanical ...
Jiaxian Guo, Yang Zhang, Xin Wang, Shan Cao, Jun Xu   +4 more
wiley   +1 more source

The research progress on the role of FMRP in the pathogenesis of tumors

Pifu-xingbing zhenliaoxue zazhi, 2023
Fragile X mental retardation protein (FMRP) is a selective RNA-binding protein that is highly expressed in neurons and influences cytoskeletal remodeling, cell-cell signal transduction and interactions.
Huizhi YANG, Sirui LI, Guiyue CAI, Jingwen ZOU, Junnan REN, Rongyi CHEN   +5 more
doaj   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source