Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2

Real-time kinetic method to monitor isopeptidase activity of transglutaminase 2 on protein substrate

(2016) Kiruphagaran Thangaraju et al.   ANALYTICAL BIOCHEMISTRY

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

(2016) Monkol Lek et al.   NATURE

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

Isopeptidase activity of human transglutaminase 2: disconnection from transamidation and characterization by kinetic parameters

(2015) Róbert Király et al.   AMINO ACIDS

Metastasis-associated S100A4 is a specific amine donor and an activity-independent binding partner of transglutaminase-2

(2015) B. Biri et al.   BIOCHEMICAL JOURNAL

High-Resolution CRISPR Screens Reveal Fitness Genes and Genotype-Specific Cancer Liabilities

(2015) Traver Hart et al.   CELL

Physiological, pathological, and structural implications of non-enzymatic protein–protein interactions of the multifunctional human transglutaminase 2

(2015) Kajal Kanchan et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Novel TGM5 mutations in acral peeling skin syndrome

(2015) Jaap J. A. J. van der Velden et al.   EXPERIMENTAL DERMATOLOGY

Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease

(2015) Alexander H Li et al.   NATURE GENETICS

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

The human gene damage index as a gene-level approach to prioritizing exome variants

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene essentiality and synthetic lethality in haploid human cells

(2015) V. A. Blomen et al.   SCIENCE

Identification and characterization of essential genes in the human genome

(2015) T. Wang et al.   SCIENCE

iLIR

(2014) Ioanna Kalvari et al.   Autophagy

Classification of Intrinsically Disordered Regions and Proteins

(2014) Robin van der Lee et al.   CHEMICAL REVIEWS

Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?

(2014) Bora Uyar et al.   Molecular BioSystems

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Transglutaminase Regulation of Cell Function

(2014) Richard L. Eckert et al.   PHYSIOLOGICAL REVIEWS

Prediction and Experimental Characterization of nsSNPs Altering Human PDZ-Binding Motifs

(2014) David Gfeller et al.   PLoS One

Activity-regulating structural changes and autoantibody epitopes in transglutaminase 2 assessed by hydrogen/deuterium exchange

(2014) Rasmus Iversen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure of Active Coagulation Factor XIII Triggered by Calcium Binding: Basis for the Design of Next-Generation Anticoagulants

(2013) Martin Stieler et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Identification of a specific one amino acid change in recombinant human transglutaminase 2 that regulates its activity and calcium sensitivity

(2013) Kajal Kanchan et al.   BIOCHEMICAL JOURNAL

Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations

(2013) É. Katona et al.   HAEMOPHILIA

The Effects of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) on Protein–Protein Interactions

(2013) Christopher M. Yates et al.   JOURNAL OF MOLECULAR BIOLOGY

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

(2013) Elaine T. Lim et al.   NEURON

The eukaryotic linear motif resource ELM: 10 years and counting

(2013) Holger Dinkel et al.   NUCLEIC ACIDS RESEARCH

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Glucose Homeostasis in Mice Is Transglutaminase 2 Independent

(2013) Siiri E. Iismaa et al.   PLoS One

Type 2 transglutaminase is involved in the autophagy-dependent clearance of ubiquitinated proteins

(2012) M D'Eletto et al.   CELL DEATH AND DIFFERENTIATION

Characterization of Heparin-binding Site of Tissue Transglutaminase

(2012) Zhuo Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions

(2011) Róbert Király et al.   AMINO ACIDS

Attributes of short linear motifs

(2011) Norman E. Davey et al.   Molecular BioSystems

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Factor XIII: A Coagulation Factor With Multiple Plasmatic and Cellular Functions

(2011) László Muszbek et al.   PHYSIOLOGICAL REVIEWS

A single conformational transglutaminase 2 epitope contributed by three domains is critical for celiac antibody binding and effects

(2011) Z. Simon-Vecsei et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

(2010) Jun Ling Wang et al.   BRAIN

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

Importance of syndecan-4 and syndecan -2 in osteoblast cell adhesion and survival mediated by a tissue transglutaminase−fibronectin complex

(2010) Z. Wang et al.   EXPERIMENTAL CELL RESEARCH

Signatures of positive selection apparent in a small sample of human exomes

(2010) J. A. Tennessen et al.   GENOME RESEARCH

Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude

(2010) X. Yi et al.   SCIENCE

Transglutaminase 2 is involved in autophagosome maturation

(2009) Manuela D'Eletto et al.   Autophagy

Stability effects of mutations and protein evolvability

(2009) Nobuhiko Tokuriki et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Functional significance of five noncanonical Ca2+-binding sites of human transglutaminase 2 characterized by site-directed mutagenesis

(2009) Róbert Király et al.   FEBS Journal

SUMOylation of Tissue Transglutaminase as Link between Oxidative Stress and Inflammation

(2009) A. Luciani et al.   JOURNAL OF IMMUNOLOGY

A Missense Mutation in TGM5 Causes Acral Peeling Skin Syndrome in a Tunisian Family

(2009) Monia Kharfi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Transglutaminases and Disease: Lessons From Genetically Engineered Mouse Models and Inherited Disorders

(2009) Siiri E. Iismaa et al.   PHYSIOLOGICAL REVIEWS