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Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
(CELL PRESS, 2017-05-04)
To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) ...
Decreased function of survival motor neuron protein impairs endocytic pathways.
(NATL ACAD SCIENCES, 2016-07-26)
Spinal muscular atrophy (SMA) is caused by depletion of the ubiquitously expressed survival motor neuron (SMN) protein, with 1 in 40 Caucasians being heterozygous for a disease allele. SMN is critical for the assembly of ...
Structure-Enabled Discovery of a Stapled Peptide Inhibitor to Target the Oncogenic Transcriptional Repressor TLE1.
(WILEY-V C H VERLAG GMBH, 2017-07-18)
TLE1 is an oncogenic transcriptional co-repressor that exerts its repressive effects through binding of transcription factors. Inhibition of this protein-protein interaction represents a putative cancer target, but no ...
RET Functions as a Dual-Specificity Kinase that Requires Allosteric Inputs from Juxtamembrane Elements.
(CELL PRESS, 2016-12-20)
Receptor tyrosine kinases exhibit a variety of activation mechanisms despite highly homologous catalytic domains. Such diversity arises through coupling of extracellular ligand-binding portions with highly variable ...
AXIN Shapes Tankyrase ARChitecture.
(CELL PRESS, 2016-10-04)
The poly(ADP-ribose)polymerase (PARP) Tankyrase uses ankyrin repeat modules to capture substrates via Tankyrase-binding peptide motifs. In this issue of Structure, Eisemann et al. (2016) describe how the signaling protein ...
ELM: the status of the 2010 eukaryotic linear motif resource.
(OXFORD UNIV PRESS, 2010-01-01)
Linear motifs are short segments of multidomain proteins that provide regulatory functions independently of protein tertiary structure. Much of intracellular signalling passes through protein modifications at linear motifs. ...
RPAP3 provides a flexible scaffold for coupling HSP90 to the human R2TP co-chaperone complex.
(Springer Science and Business Media LLC, 2018-04-16)
The R2TP/Prefoldin-like co-chaperone, in concert with HSP90, facilitates assembly and cellular stability of RNA polymerase II, and complexes of PI3-kinase-like kinases such as mTOR. However, the mechanism by which this ...
SUMO-mediated regulation of NLRP3 modulates inflammasome activity.
(NATURE PUBLISHING GROUP, 2018-08-01)
The NLRP3 inflammasome responds to infection and tissue damage, and rapidly escalates the intensity of inflammation by activating interleukin (IL)-1β, IL-18 and cell death by pyroptosis. How the NLRP3 inflammasome is ...
Structural Basis for Auto-Inhibition of the NDR1 Kinase Domain by an Atypically Long Activation Segment.
(CELL PRESS, 2018-08-07)
The human NDR family kinases control diverse aspects of cell growth, and are regulated through phosphorylation and association with scaffolds such as MOB1. Here, we report the crystal structure of the human NDR1 kinase ...
TopBP1 interacts with BLM to maintain genome stability but is dispensable for preventing BLM degradation.
(CELL PRESS, 2015-03-19)
The Bloom syndrome helicase BLM and topoisomerase-IIβ-binding protein 1 (TopBP1) are key regulators of genome stability. It was recently proposed that BLM phosphorylation on Ser338 mediates its interaction with TopBP1, to ...