Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

AN Abou Tayoun, T Pesaran, MT DiStefano… - Human …, 2018 - Wiley Online Library
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for
classifying variants based on several benign and pathogenic evidence criteria, including a …

Functional translational readthrough: a systems biology perspective

F Schueren, S Thoms - PLoS genetics, 2016 - journals.plos.org
Translational readthrough (TR) has come into renewed focus because systems biology
approaches have identified the first human genes undergoing functional translational …

A short translational ramp determines the efficiency of protein synthesis

M Verma, J Choi, KA Cottrell, Z Lavagnino… - Nature …, 2019 - nature.com
Translation initiation is a major rate-limiting step for protein synthesis. However, recent
studies strongly suggest that the efficiency of protein synthesis is additionally regulated by …

N-terminal proteoforms in human disease

A Bogaert, E Fernandez, K Gevaert - Trends in Biochemical Sciences, 2020 - cell.com
The collection of chemically different protein variants, or proteoforms, by far exceeds the
number of protein-coding genes in the human genome. Major contributors are alternative …

Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting

C Fritsch, A Herrmann, M Nothnagel… - Genome …, 2012 - genome.cshlp.org
So far, the annotation of translation initiation sites (TISs) has been based mostly upon
bioinformatics rather than experimental evidence. We adapted ribosomal footprinting to …

Quantitative analysis of mammalian translation initiation sites by FACS‐seq

WL Noderer, RJ Flockhart, A Bhaduri… - Molecular systems …, 2014 - embopress.org
An approach combining fluorescence‐activated cell sorting and high‐throughput DNA
sequencing (FACS‐seq) was employed to determine the efficiency of start codon recognition …

[HTML][HTML] Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-α-acetylation features

WV Bienvenut, D Sumpton, A Martinez, S Lilla… - Molecular & cellular …, 2012 - Elsevier
N-terminal modifications play a major role in the fate of proteins in terms of activity, stability,
or subcellular compartmentalization. Such modifications remain poorly described and badly …

[HTML][HTML] N-terminal proteomics and ribosome profiling provide a comprehensive view of the alternative translation initiation landscape in mice and men

P Van Damme, D Gawron, W Van Criekinge… - Molecular & Cellular …, 2014 - Elsevier
Usage of presumed 5′ UTR or downstream in-frame AUG codons, next to non-AUG codons
as translation start codons contributes to the diversity of a proteome as protein isoforms …

Nongenomic thyroid hormone signaling occurs through a plasma membrane–localized receptor

H Kalyanaraman, R Schwappacher, J Joshua… - Science …, 2014 - science.org
Thyroid hormone (TH) is essential for vertebrate development and the homeostasis of most
adult tissues, including bone. TH stimulates target gene expression through the nuclear …

Cx43 isoform GJA1-20k promotes microtubule dependent mitochondrial transport

Y Fu, SS Zhang, S **ao, WA Basheer, R Baum… - Frontiers in …, 2017 - frontiersin.org
Connexin 43 (Cx43, encoded by GJA1) is a cell-cell communication gap junction protein
expressed in all organ systems. It was recently found that GJA1 mRNA undergoes …