Results 31 to 40 of about 1,143 (122)

Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes [PDF]

EMBO Molecular Medicine, 2015
Fragile X syndrome (FXS) is mostly caused by a CGG triplet expansion in the fragile X mental retardation 1 gene (FMR1). Up to 60% of affected males fulfill criteria for autism spectrum disorder (ASD), making FXS the most frequent monogenetic cause of ...
Beata Stepniak, Anne Kästner, Giulia Poggi, Marina Mitjans, Martin Begemann, Annette Hartmann, Sandra Van der Auwera, Farahnaz Sananbenesi, Dilja Krueger‐Burg, Gabriela Matuszko, Cornelia Brosi, Georg Homuth, Henry Völzke, Fritz Benseler, Claudia Bagni, Utz Fischer, Alexander Dityatev, Hans‐Jörgen Grabe, Dan Rujescu, Andre Fischer, Hannelore Ehrenreich   +20 more
doaj   +2 more sources

Are FXR Family Proteins Integrators of Dopamine Signaling and Glutamatergic Neurotransmission in Mental Illnesses? [PDF]

Frontiers in Synaptic Neuroscience, 2018
Dopamine receptors and related signaling pathways have long been implicated in pathophysiology and treatment of mental illnesses, including schizophrenia and bipolar disorder.
Jivan Khlghatyan, Jivan Khlghatyan, Jean-Martin Beaulieu, Jean-Martin Beaulieu   +3 more
doaj   +2 more sources

Absence of RNA‐binding protein FXR2P prevents prolonged phase of kainate‐induced seizures [PDF]

, 2021
: Status epilepticus (SE) is a condition in which seizures are not self-terminating and thereby pose a serious threat to the patient's life. The molecular mechanisms underlying SE are likely heterogeneous and not well understood.
Tilmann Achsel, Telley, Ludovic, Rajan, N., Buzzi, A., Bagni, C., Lo, Adrian C, Lo, A.C., Simonato, M., Adrian C Lo, Claudia Bagni, Rajan, Nicholas, Hilal, M.L., Telley, L., Hilal, Muna L, Gastaldo, D., Achsel, Tilmann, Bagni, Claudia, Michele Simonato, Ludovic Telley, Achsel, T., Buzzi, Andrea, Muna L Hilal, Simonato, Michele, Denise Gastaldo, Gastaldo, Denise, Nicholas Rajan, Andrea Buzzi, Buzzi A., Simonato M., Lo, Adrian C., Gastaldo D., Rajan N., Hilal, Muna L., Telley L., Bagni C., Hilal M. L., Lo A. C., Achsel T.   +37 more
core   +2 more sources

NF-Y, AP2, Nrf1 and Sp1 regulate the fragile X-related gene 2 (FXR2) [PDF]

Biochemical Journal, 2006
Fragile X syndrome, the most common heritable form of mental retardation, is caused by silencing of the FMR1 (fragile X mental retardation-1 gene). The protein product of this gene, FMRP (fragile X mental retardation protein), is thought to be involved in the translational regulation of mRNAs important for learning and memory. In mammals, there are two
Lata, Mahishi, Karen, Usdin
openaire   +2 more sources

LLPS of FXR proteins drives replication organelle clustering for β-coronaviral proliferation. [PDF]

J Cell Biol
β-Coronaviruses remodel host endomembranes to form double-membrane vesicles (DMVs) as replication organelles (ROs) that provide a shielded microenvironment for viral RNA synthesis in infected cells. DMVs are clustered, but the molecular underpinnings and
Li M, Hou Y, Zhou Y, Yang Z, Zhao H, Jian T, Yu Q, Zeng F, Liu X, Zhang Z, Zhao YG.   +10 more
europepmc   +2 more sources

Author Response: FXR1 Regulates Transcription and Is Required for Growth of Human Cancer Cells With TP53/FXR2 Homozygous Deletion

, 2017
Bin Xiang, Yingxiang Li, En Li
exaly   +2 more sources

FXR1-Directed Alternative Splicing of MK5 Drives Hepatocellular Carcinoma Progression by Activating GSK3β Signaling. [PDF]

Cancer Sci
The RNA‐binding protein FXR1 promotes hepatocellular carcinoma (HCC) progression by driving alternative splicing of MK5 to generate an oncogenic isoform, MK5‐L, which activates the Wnt/β‐catenin pathway. Targeting FXR1 with an antisense oligonucleotide suppresses tumor growth in vivo, revealing a promising therapeutic strategy for HCC.
Li Y, Xiang J, Cheng B, Li C, Wang K, Tang N, Huang L.   +6 more
europepmc   +2 more sources

The KIF6-RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly. [PDF]

Adv Sci (Weinh)
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Xie C, Yi S, Lin X, Zhang S, Wang W, Yuan S, Meng L, Li Y, Tan C, Wei C, Yu Y, Liang Y, Zhang H, Hu L, Lu G, He W, Zhang Q, Du J, Lin G, Tu C, Tan YQ.   +20 more
europepmc   +2 more sources

Screening of AAK1 interaction proteins and its role in regulating global translation level in cells

Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023
Objective·To investigate noval interacting partners for adaptor-associated protein kinase 1 (AAK1) and AAK1-mediated biological functions besides clathrin-mediated endocytosis.Methods·The labeled AAK1 vector and the blank control vector were transfected ...
JIANG Guixian, HU Ronggui, WU Hao
doaj   +1 more source

Mechanisms of dynein-based mRNA transport processes in human cells [PDF]

, 2023
Protein function in cells is intricately regulated in both space and time through the positioning of mRNA molecules in the cytoplasm. This process is commonly mediated by molecular motors, which transport mRNAs along the cytoskeleton to specific cellular

core   +2 more sources