A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity

AFM Imaging Reveals Multiple Conformational States of ADAMTS13

(2019) Shanshan Yu et al.   Journal of Biological Engineering

Exploring the “minimal” structure of a functional ADAMTS13 by mutagenesis and small-angle X-ray scattering

(2019) Jian Zhu et al.   BLOOD

Translational and transcriptional responses in human primary hepatocytes under hypoxia

(2019) Gaya K Hettiarachchi et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Codon and Codon-Pair Usage Tables (CoCoPUTs): Facilitating Genetic Variation Analyses and Recombinant Gene Design

(2019) Aikaterini Alexaki et al.   JOURNAL OF MOLECULAR BIOLOGY

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

(2019) Upendra K. Katneni et al.   Molecular Genetics & Genomic Medicine

The Kazusa codon usage database, CoCoPUTs, and the value of up-to-date codon usage statistics

(2019) David D. Holcomb et al.   INFECTION GENETICS AND EVOLUTION

Effects of codon optimization on coagulation factor IX translation and structure: Implications for protein and gene therapies

(2019) Aikaterini Alexaki et al.   Scientific Reports

Unraveling co-translational protein folding: Concepts and methods

(2018) Anton A. Komar   METHODS

Insights into 3D Structure of ADAMTS13: A Stepping Stone towards Novel Therapeutic Treatment of Thrombotic Thrombocytopenic Purpura

(2018) Bogac Ercig et al.   THROMBOSIS AND HAEMOSTASIS

Von Willebrand Factor/ADAMTS-13 Interactions at Birth: Implications for Thrombosis in the Neonatal Period

(2018) U. K. Katneni et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Compounding variants rescue the effect of a deleterious ADAMTS13 mutation in a child with severe congenital heart disease

(2017) Upendra K. Katneni et al.   THROMBOSIS RESEARCH

Identification of glycans on plasma-derived ADAMTS13

(2016) Fabian C. Verbij et al.   BLOOD

Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B

(2016) Vijaya L Simhadri et al.   JOURNAL OF MEDICAL GENETICS

Synonymous Codons Direct Cotranslational Folding toward Different Protein Conformations

(2016) Florian Buhr et al.   MOLECULAR CELL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Codon Usage Influences the Local Rate of Translation Elongation to Regulate Co-translational Protein Folding

(2015) Chien-Hung Yu et al.   MOLECULAR CELL

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Translational tuning optimizes nascent protein folding in cells

(2015) S. J. Kim et al.   SCIENCE

Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers

(2014) Fran Supek et al.   CELL

Identification of N-linked glycosylation and putative O-fucosylation, C-mannosylation sites in plasma derived ADAMTS13

(2014) N. Sorvillo et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Exposing synonymous mutations

(2014) Ryan C. Hunt et al.   TRENDS IN GENETICS

ADAMTS13 Predicts Renal and Cardiovascular Events in Type 2 Diabetic Patients and Response to Therapy

(2013) E. Rurali et al.   DIABETES

ADAMTS13 activity and genetic mutations in Japan

(2013) T. Miyata et al.   Hamostaseologie

Crystal structure and enzymatic activity of an ADAMTS-13 mutant with the East Asian-specific P475S polymorphism

(2013) M. Akiyama et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Structure-function and regulation of ADAMTS-13 protease

(2013) X. L. Zheng   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Integration-deficient Lentiviral Vectors Expressing Codon-optimized R338L Human FIX Restore Normal Hemostasis in Hemophilia B Mice

(2013) Thipparat Suwanmanee et al.   MOLECULAR THERAPY

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Serverification of Molecular Modeling Applications: The Rosetta Online Server That Includes Everyone (ROSIE)

(2013) Sergey Lyskov et al.   PLoS One

Role of reduced ADAMTS13 in arterial ischemic stroke: A Pediatric Cohort Study

(2012) Moritz Lambers et al.   ANNALS OF NEUROLOGY

Characterization of Coding Synonymous and Non-Synonymous Variants in ADAMTS13 Using Ex Vivo and In Silico Approaches

(2012) Nathan C. Edwards et al.   PLoS One

Evolutionary Dynamics of Gene and Isoform Regulation in Mammalian Tissues

(2012) J. Merkin et al.   SCIENCE

Increased ADAMTS13 activity in patients with venous thromboembolism

(2012) Bruna M. Mazetto et al.   THROMBOSIS RESEARCH

Unraveling the scissile bond: how ADAMTS13 recognizes and cleaves von Willebrand factor

(2011) J. T. B. Crawley et al.   BLOOD

Understanding the contribution of synonymous mutations to human disease

(2011) Zuben E. Sauna et al.   NATURE REVIEWS GENETICS

A Synonymous Single Nucleotide Polymorphism in ΔF508CFTRAlters the Secondary Structure of the mRNA and the Expression of the Mutant Protein

(2010) Rafal A. Bartoszewski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Synonymous but not the same: the causes and consequences of codon bias

(2010) Joshua B. Plotkin et al.   NATURE REVIEWS GENETICS

A comprehensive analysis of translational missense errors in the yeast Saccharomyces cerevisiae

(2010) E. B. Kramer et al.   RNA

Essential role of the disintegrin-like domain in ADAMTS13 function

(2009) R. de Groot et al.   BLOOD

Mutation of the H-bond acceptor S119 in the ADAMTS13 metalloprotease domain reduces secretion and substrate turnover in a patient with congenital thrombotic thrombocytopenic purpura

(2009) H. B. Feys et al.   BLOOD

Post-translational Modification of Thrombospondin Type-1 Repeats in ADAMTS-like 1/Punctin-1 byC-Mannosylation of Tryptophan

(2009) Lauren W. Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of Conformation-Sensitive Antibodies to ADAMTS13, the von Willebrand Cleavage Protease

(2009) Zuben E. Sauna et al.   PLoS One

Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor

(2009) M. Akiyama et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-Wide Analysis in Vivo of Translation with Nucleotide Resolution Using Ribosome Profiling

(2009) N. T. Ingolia et al.   SCIENCE

Preferred and avoided codon pairs in three domains of life

(2008) Age Tats et al.   BMC GENOMICS

A pause for thought along the co-translational folding pathway

(2008) Anton A. Komar   TRENDS IN BIOCHEMICAL SCIENCES