Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death

Incomplete penetrance in primary immunodeficiency: a skeleton in the closet

(2020) Conor Gruber et al.   HUMAN GENETICS

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2020) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Reversal of CYLD phosphorylation as a novel therapeutic approach for adult T-cell leukemia/lymphoma (ATLL)

(2020) Xin Xu et al.   Cell Death & Disease

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?

(2020) Can Kosukcu et al.   RHEUMATOLOGY

Humanin selectively prevents the activation of pro-apoptotic protein BID by sequestering it into fibers

(2020) Daniel L Morris et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Synergism of TNF-α and IFN-γ Triggers Inflammatory Cell Death, Tissue Damage, and Mortality in SARS-CoV-2 Infection and Cytokine Shock Syndromes

(2020) Rajendra Karki et al.   CELL

Cell Death and Inflammation – A Vital but Dangerous Liaison

(2019) Nieves Peltzer et al.   TRENDS IN IMMUNOLOGY

Inflammasome signaling and regulation of interleukin-1 family cytokines

(2019) Amy H. Chan et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

(2019) Najoua Lalaoui et al.   NATURE

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

(2019) Panfeng Tao et al.   NATURE

Structural insights into the ubiquitin recognition by OPTN (optineurin) and its regulation by TBK1-mediated phosphorylation

(2018) Faxiang Li et al.   Autophagy

The Structure of the Necrosome RIPK1-RIPK3 Core, a Human Hetero-Amyloid Signaling Complex

(2018) Miguel Mompeán et al.   CELL

The methyltransferase PRMT6 attenuates antiviral innate immunity by blocking TBK1–IRF3 signaling

(2018) Hua Zhang et al.   Cellular & Molecular Immunology

Ubiquitin-Mediated Regulation of RIPK1 Kinase Activity Independent of IKK and MK2

(2018) Alessandro Annibaldi et al.   MOLECULAR CELL

Regulation of a distinct activated RIPK1 intermediate bridging complex I and complex II in TNFα-mediated apoptosis

(2018) Palak Amin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

BiallelicRIPK1mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

(2018) Delphine Cuchet-Lourenço et al.   SCIENCE

CellProfiler 3.0: Next-generation image processing for biology

(2018) Claire McQuin et al.   PLOS BIOLOGY

TBK1 Suppresses RIPK1-Driven Apoptosis and Inflammation during Development and in Aging

(2018) Daichao Xu et al.   CELL

A Mitochondrial Encoded Messenger at the Nucleus

(2018) Cheryl Yong et al.   Cells

TBK1 and IKKε prevent TNF-induced cell death by RIPK1 phosphorylation

(2018) Elodie Lafont et al.   NATURE CELL BIOLOGY

Necroptosis and RIPK1-mediated neuroinflammation in CNS diseases

(2018) Junying Yuan et al.   NATURE REVIEWS NEUROSCIENCE

The kinase TBK1 functions in dendritic cells to regulate T cell homeostasis, autoimmunity, and antitumor immunity

(2017) Yichuan Xiao et al.   JOURNAL OF EXPERIMENTAL MEDICINE

NEMO–IKKβ Are Essential for IRF3 and NF-κB Activation in the cGAS–STING Pathway

(2017) Run Fang et al.   JOURNAL OF IMMUNOLOGY

IFI16 is required for DNA sensing in human macrophages by promoting production and function of cGAMP

(2017) K. L. Jønsson et al.   Nature Communications

TBK1: a new player in ALS linking autophagy and neuroinflammation

(2017) James A. Oakes et al.   Molecular Brain

The MLKL Channel in Necroptosis Is an Octamer Formed by Tetramers in a Dyadic Process

(2016) Deli Huang et al.   MOLECULAR AND CELLULAR BIOLOGY

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria

(2016) Benjamin Richter et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

More to Life than NF-κB in TNFR1 Signaling

(2016) Adrian T. Ting et al.   TRENDS IN IMMUNOLOGY

Human TBK1: A Gatekeeper of Neuroinflammation

(2016) Liyana Ahmad et al.   TRENDS IN MOLECULAR MEDICINE

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

LUBAC-Recruited CYLD and A20 Regulate Gene Activation and Cell Death by Exerting Opposing Effects on Linear Ubiquitin in Signaling Complexes

(2015) Peter Draber et al.   Cell Reports

Cutting Edge: RIPK1 Kinase Inactive Mice Are Viable and Protected from TNF-Induced Necroptosis In Vivo

(2014) Apostolos Polykratis et al.   JOURNAL OF IMMUNOLOGY

Mixed Lineage Kinase Domain-like Protein MLKL Causes Necrotic Membrane Disruption upon Phosphorylation by RIP3

(2014) Huayi Wang et al.   MOLECULAR CELL

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

(2014) Xianqin Zhang et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Antiapoptotic Factor Humanin Is Expressed in Normal and Tumoral Pituitary Cells and Protects Them from TNF-α-Induced Apoptosis

(2014) María Florencia Gottardo et al.   PLoS One

Activity of Protein Kinase RIPK3 Determines Whether Cells Die by Necroptosis or Apoptosis

(2014) K. Newton et al.   SCIENCE

MLKL Compromises Plasma Membrane Integrity by Binding to Phosphatidylinositol Phosphates

(2014) Yves Dondelinger et al.   Cell Reports

Mlkl knockout mice demonstrate the indispensable role of Mlkl in necroptosis

(2013) Jianfeng Wu et al.   CELL RESEARCH

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1

(2013) John H Livingston et al.   JOURNAL OF MEDICAL GENETICS

Plasma membrane translocation of trimerized MLKL protein is required for TNF-induced necroptosis

(2013) Zhenyu Cai et al.   NATURE CELL BIOLOGY

CYLD Deubiquitinates RIP1 in the TNFα-Induced Necrosome to Facilitate Kinase Activation and Programmed Necrosis

(2013) David M. Moquin et al.   PLoS One

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation

(2012) Manohar Pilli et al.   IMMUNITY

HeterozygousTBK1mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

(2012) Melina Herman et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

(2012) D. Bogunovic et al.   SCIENCE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Focused Evolution of HIV-1 Neutralizing Antibodies Revealed by Structures and Deep Sequencing

(2011) X. Wu et al.   SCIENCE

Mice lacking Tbk1 activity exhibit immune cell infiltrates in multiple tissues and increased susceptibility to LPS-induced lethality

(2010) Erica Marchlik et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Phosphorylation-Driven Assembly of the RIP1-RIP3 Complex Regulates Programmed Necrosis and Virus-Induced Inflammation

(2009) YoungSik Cho et al.   CELL

Phosphorylation of the Tumor Suppressor CYLD by the Breast Cancer Oncogene IKKɛ Promotes Cell Transformation

(2009) Jessica E. Hutti et al.   MOLECULAR CELL

The TBK1 adaptor and autophagy receptor NDP52 restricts the proliferation of ubiquitin-coated bacteria

(2009) Teresa L M Thurston et al.   NATURE IMMUNOLOGY

RIP3, an Energy Metabolism Regulator That Switches TNF-Induced Cell Death from Apoptosis to Necrosis

(2009) D.-W. Zhang et al.   SCIENCE