Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A
Y Miyata, E Nishida - Life Science Alliance, 2023 - life-science-alliance.org
The protein kinase DYRK1A encoded in human chromosome 21 is the major contributor to
the multiple symptoms observed in Down syndrome patients. In addition, DYRK1A …
the multiple symptoms observed in Down syndrome patients. In addition, DYRK1A …
AUTS2 gene dosage affects synaptic AMPA receptors via a local dendritic spine AUTS2-TTC3-AKT-mTORC1 signaling dysfunction
AM Lepagnol-Bestel, A Duchon, J Viard, M Kvajo… - bioRxiv, 2022 - biorxiv.org
ABSTRACT The Human 1.2-Mb AUTS2 locus on chromosome 7q11. 22 encodes a 1259-aa
full-length protein, and a 711-aa C-terminal isoform. Functions of these AUTS2 proteins are …
full-length protein, and a 711-aa C-terminal isoform. Functions of these AUTS2 proteins are …
Analysis of Genes Responsible for Neuronal Morphological Changes in Down Syndrome hiPSC-derived Neurons
J Patel - 2023 - scholarcommons.sc.edu
Down syndrome (DS) is a complex neurodevelopmental disorder caused by the trisomy of
chromosome 21. DS is the largest genetic cause of intellectual disability, which occurs in …
chromosome 21. DS is the largest genetic cause of intellectual disability, which occurs in …