Results 81 to 90 of about 22,945 (246)

Novel FMRP interaction networks linked to cellular stress

The FEBS Journal, 2020
Silencing of the fragile X mental retardation 1 (FMR1) gene and consequently lack of synthesis of FMR protein (FMRP) are associated with fragile X syndrome, which is one of the most prevalent inherited intellectual disabilities, with additional roles in increased viral infection, liver disease, and reduced cancer risk.
Mohamed S. Taha, Fereshteh Haghighi, Anja Stefanski, Saeideh Nakhaei‐Rad, Neda S. Kazemein Jasemi, Mohamed Aghyad Al Kabbani, Boris Görg, Masahiro Fujii, Phillip A. Lang, Dieter Häussinger, Roland P. Piekorz, Kai Stühler, Mohammad R. Ahmadian   +12 more
openaire   +3 more sources

NMDAR mediated translation at the synapse is regulated by MOV10 and FMRP

Molecular Brain, 2019
Protein synthesis is crucial for maintaining synaptic plasticity and synaptic signalling. Here we have attempted to understand the role of RNA binding proteins, Fragile X Mental Retardation Protein (FMRP) and Moloney Leukemia Virus 10 (MOV10) protein in ...
Preeti Madhav Kute, Sarayu Ramakrishna, Nagammal Neelagandan, Sumantra Chattarji, Ravi. S. Muddashetty   +4 more
doaj   +1 more source

mRNP granule proteins Fmrp and Dcp1a differentially regulate mRNP complexes to contribute to control of muscle stem cell quiescence and activation

Skeletal Muscle, 2021
Background During skeletal muscle regeneration, satellite stem cells use distinct pathways to repair damaged myofibers or to self-renew by returning to quiescence.
Nainita Roy, Swetha Sundar, Malini Pillai, Farah Patell-Socha, Sravya Ganesh, Ajoy Aloysius, Mohammed Rumman, Hardik Gala, Simon M. Hughes, Peter S. Zammit, Jyotsna Dhawan   +10 more
doaj   +1 more source

Clinical and molecular correlates in fragile X premutation females. [PDF]

, 2017
The prevalence of the fragile X premutation (55-200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes.
AlOlaby, Reem R, Chutabhakdikul, Nuanchan, Durbin-Johnson, Blythe, Espinal, Glenda M, Hagerman, Paul J, Hagerman, Randi J, Hessl, David, Jiraanont, Poonnada, Rivera, Susan M, Schneider, Andrea, Silva, Marisol, Sweha, Stefan R, Tang, Hiu-Tung, Tassone, Flora   +13 more
core   +2 more sources

Exploring the Bidirectional Association Between Migraine and Temporomandibular Disorders: A Systematic Review and Meta‐Analysis

Journal of Oral Rehabilitation, EarlyView.
DC/TMD: Diagnostic Criteria for Temporomandibular Disorders; RDC/TMD: Research Diagnostic Criteria for Temporomandibular Disorders; ICHD: International Classification of Headache Disorders. OR: Odds Ratio. ABSTRACT Background Migraine and temporomandibular disorders (TMD) are comorbid conditions that are highly frequent among patients.
Marlon Ferreira Dias, Amanda Costa Ferro, Juliana Homem Padilha Spavieri, Túlio Morandin Ferrisse, Daniela Aparecida de Godoi Gonçalves   +4 more
wiley   +1 more source

FMRP is associated to the ribosomes via RNA [PDF]

Human Molecular Genetics, 1996
The FMR1 transcript is alternatively spliced and generates different splice variants coding for FMR1 proteins (FMRP) with a predicted molecular mass of 70-80 kDa. FMRP is widely expressed and localized in the cytoplasm. To study a possible interaction with other cellular components, FMRP was isolated and characterized under non-denaturing conditions ...
F, Tamanini, N, Meijer, C, Verheij, P J, Willems, H, Galjaard, B A, Oostra, A T, Hoogeveen   +6 more
openaire   +2 more sources

How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle

Psychiatry and Clinical Neurosciences, EarlyView.
Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the ...
Tianqi Wang, Kubra Trabzonlu, Emily Fullard Jones, Yasir Ahmed Syed   +3 more
wiley   +1 more source

Elevated glycogen synthase kinase 3 activity in Fragile X mice: key metabolic regulator with evidence for treatment potential [PDF]

, 2007
Significant advances have been made in understanding the underlying defects of and developing potential treatments for Fragile X Syndrome (FXS), the most common heritable mental retardation.
Bauchwitz, Dr. Robert P.
core  

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

Fmr1 knockout disrupts multiple intrinsic properties via reduced HCN channel activity in mediodorsal thalamocortical neurons

Experimental Physiology, EarlyView.
Abstract The neurodevelopmental disorder fragile X syndrome (FXS) results from hypermethylation of the FMR1 gene, which prevents production of the FMRP protein. FMRP modulates the expression and function of a variety of proteins, including voltage‐gated ion channels, such as hyperpolarization‐activated and cyclic nucleotide‐gated (HCN) channels, which ...
Gregory J. Ordemann, Polina Lyuboslavsky, Alena Kizimenko, Audrey C. Brumback   +3 more
wiley   +1 more source