Results 41 to 50 of about 16,335 (162)

Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells.

PLoS Genetics, 2010
Fragile X syndrome (FXS), the most common form of inherited mental retardation, is caused by the loss of functional fragile X mental retardation protein (FMRP). FMRP is an RNA-binding protein that can regulate the translation of specific mRNAs.
Yuping Luo, Ge Shan, Weixiang Guo, Richard D Smrt, Eric B Johnson, Xuekun Li, Rebecca L Pfeiffer, Keith E Szulwach, Ranhui Duan, Basam Z Barkho, Wendi Li, Changmei Liu, Peng Jin, Xinyu Zhao   +13 more
doaj   +1 more source

Fragile X Mental Retardation Protein FMRP Binds mRNAs in the Nucleus [PDF]

Molecular and Cellular Biology, 2009
The fragile X mental retardation protein FMRP is an RNA binding protein that associates with a large collection of mRNAs. Since FMRP was previously shown to be a nucleocytoplasmic shuttling protein, we examined the hypothesis that FMRP binds its cargo mRNAs in the nucleus.
Miri, Kim, Michel, Bellini, Stephanie, Ceman   +2 more
openaire   +2 more sources

Targeting m6A Modifications Regulating Ferroptosis Offers Novel Therapy in Diseases

Cell Proliferation, EarlyView.
m6A RNA modification regulates ferroptosis by balancing iron metabolism, lipid peroxidation, and antioxidant defenses. Dysregulated m6A signaling disrupts pro‐ and anti‐ferroptotic factors, leading to excess ROS, Fe3+ accumulation, and lipid peroxidation–driven cell death. Targeting m6A‐mediated ferroptotic regulation represents a promising therapeutic
Lida Du, Joshua S. Fleishman, Shuang Wu, Yuan Zhou, Clara X. Wang, Haitong Wang, Yumin Wang, Hongquan Wang   +7 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Fragile X mental retardation protein interacts with TDG

Chinese Science Bulletin, 2000
Fragile X syndrome is the most common form of inherited mental retardation disease, resulting from absent of expression of its disease geneFMR1. To study the function of the fragile X mental retardation protein (FMRP) through protein/protein interaction, a mouse embryo cDNA library was screened by the yeast two-hybrid system.
Yuting Chen, B. Bardoni, Ming Yu, Ning Zhu, Guanyun Wu, J. L. Mandel, Yan Shen   +6 more
openaire   +1 more source

The Fragile X Mental Retardation Protein in Circadian Rhythmicity and Memory Consolidation [PDF]

Molecular Neurobiology, 2009
The control of new protein synthesis provides a means to locally regulate the availability of synaptic components necessary for dynamic neuronal processes. The fragile X mental retardation protein (FMRP), an RNA-binding translational regulator, is a key player mediating appropriate synaptic protein synthesis in response to neuronal activity levels ...
Cheryl L, Gatto, Kendal, Broadie
openaire   +2 more sources

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

Universa Medicina, 2011
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  

Alterations of Amino Acids and Monoamine Metabolism in Male Fmr1 Knockout Mice: A Putative Animal Model of the Human Fragile X Mental Retardation Syndrome

Neural Plasticity, 2001
The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) geneleading to the absence of the encoded fragile X mental retardation protein 1 (FMRP).
Michael Gruss, Katharina Braun
doaj   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Gender Justice in the Triple Planetary Crisis: A Scoping Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim To identify and report how gender justice is conceptualised and discussed in contemporary health literature in relation to the Triple Planetary Crisis of climate change, pollution and biodiversity loss, with a particular focus on the experiences of women and gender‐diverse populations, and the representation of nurses and other healthcare ...
Catelyn Richards, Micah Peters, Julia Charalambous, Lila Singh‐Peterson, Lucy Osborn, Aletha Ward, Jessica LeClair, Tracy Levett‐Jones   +7 more
wiley   +1 more source