Immune diseases caused by mutations in kinases and components of the ubiquitin system

Kinase Drug Discovery – What’s Next in the Field?

(2013) Philip Cohen et al.   ACS Chemical Biology

Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndrome

(2013) G. Nocturne et al.   BLOOD

OTULIN Antagonizes LUBAC Signaling by Specifically Hydrolyzing Met1-Linked Polyubiquitin

(2013) Kirstin Keusekotten et al.   CELL

Disease-causing mutations in the XIAPBIR2 domain impair NOD2-dependent immune signalling

(2013) Rune Busk Damgaard et al.   EMBO Molecular Medicine

Dimerization and Ubiquitin Mediated Recruitment of A20, a Complex Deubiquitinating Enzyme

(2013) Timothy T. Lu et al.   IMMUNITY

An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

(2013) Bertrand Boisson et al.   IMMUNITY

Optineurin Insufficiency Impairs IRF3 but Not NF- B Activation in Immune Cells

(2013) I. Munitic et al.   JOURNAL OF IMMUNOLOGY

Two Rare Disease-Associated Tyk2 Variants Are Catalytically Impaired but Signaling Competent

(2013) Z. Li et al.   JOURNAL OF IMMUNOLOGY

Two Phases of Inflammatory Mediator Production Defined by the Study of IRAK2 and IRAK1 Knock-in Mice

(2013) E. Pauls et al.   JOURNAL OF IMMUNOLOGY

ABIN1 Dysfunction as a Genetic Basis for Lupus Nephritis

(2013) D. J. Caster et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

OTULIN Restricts Met1-Linked Ubiquitination to Control Innate Immune Signaling

(2013) Berthe Katrine Fiil et al.   MOLECULAR CELL

The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis

(2013) Elena Rivkin et al.   NATURE

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

(2013) Jimmy Z Liu et al.   NATURE GENETICS

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

(2013) Carrie L Lucas et al.   NATURE IMMUNOLOGY

Molecular control of the NEMO family of ubiquitin-binding proteins

(2013) Kristopher Clark et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Activation of the canonical IKK complex by K63/M1-linked hybrid ubiquitin chains

(2013) C. H. Emmerich et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PARK2 Mediates Interleukin 6 and Monocyte Chemoattractant Protein 1 Production by Human Macrophages

(2013) Louis de Léséleuc et al.   PLoS Neglected Tropical Diseases

Risk for myasthenia gravis maps to a151Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08

(2012) Peter K. Gregersen et al.   ANNALS OF NEUROLOGY

Ubiquitin-Binding Proteins: Decoders of Ubiquitin-Mediated Cellular Functions

(2012) Koraljka Husnjak et al.   Annual Review of Biochemistry

Investigation of 20 non-HLA (human leucocyte antigen) psoriasis susceptibility loci in Chinese patients with psoriatic arthritis and psoriasis vulgaris

(2012) Q. Yang et al.   BRITISH JOURNAL OF DERMATOLOGY

A20 inhibits LUBAC-mediated NF-κB activation by binding linear polyubiquitin chains via its zinc finger 7

(2012) Kelly Verhelst et al.   EMBO JOURNAL

Specific recognition of linear polyubiquitin by A20 zinc finger 7 is involved in NF-κB regulation

(2012) Fuminori Tokunaga et al.   EMBO JOURNAL

Confirmation of TBK1 duplication in normal tension glaucoma

(2012) Kazuhide Kawase et al.   EXPERIMENTAL EYE RESEARCH

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

(2012) Manohar Pilli et al.   IMMUNITY

Analysis of Nuclear Factor-κB (NF-κB) Essential Modulator (NEMO) Binding to Linear and Lysine-linked Ubiquitin Chains and Its Role in the Activation of NF-κB

(2012) Tobias Kensche et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The role of ubiquitylation in receptor endocytosis and endosomal sorting

(2012) K. Haglund et al.   JOURNAL OF CELL SCIENCE

Identification of a genetic locus controlling bacteria-driven colitis and associated cancer through effects on innate inflammation

(2012) Olivier Boulard et al.   JOURNAL OF EXPERIMENTAL MEDICINE

HeterozygousTBK1mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

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

PGE2 Induces Macrophage IL-10 Production and a Regulatory-like Phenotype via a Protein Kinase A-SIK-CRTC3 Pathway

(2012) K. F. MacKenzie et al.   JOURNAL OF IMMUNOLOGY

Human TOLLIP Regulates TLR2 and TLR4 Signaling and Its Polymorphisms Are Associated with Susceptibility to Tuberculosis

(2012) J. A. Shah et al.   JOURNAL OF IMMUNOLOGY

The Ubiquitin Ligase XIAP Recruits LUBAC for NOD2 Signaling in Inflammation and Innate Immunity

(2012) Rune Busk Damgaard et al.   MOLECULAR CELL

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

(2012) Steve Eyre et al.   NATURE GENETICS

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

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Phosphorylation of CRTC3 by the salt-inducible kinases controls the interconversion of classically activated and regulatory macrophages

(2012) K. Clark et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A20, ABIN-1/2, and CARD11 Mutations and Their Prognostic Value in Gastrointestinal Diffuse Large B-Cell Lymphoma

(2011) Gehong Dong et al.   CLINICAL CANCER RESEARCH

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or I B  Deficiency

(2011) C. Picard et al.   CLINICAL MICROBIOLOGY REVIEWS

Polyubiquitin Binding to Optineurin Is Required for Optimal Activation of TANK-binding Kinase 1 and Production of Interferon β

(2011) Catherine E. Gleason et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

(2011) Vanessa Sancho-Shimizu et al.   JOURNAL OF CLINICAL INVESTIGATION

Polyubiquitin binding to ABIN1 is required to prevent autoimmunity

(2011) Sambit K. Nanda et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Lymphocyte α-kinase is a gout-susceptible gene involved in monosodium urate monohydrate-induced inflammatory responses

(2011) Shu-Jung Wang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Direct, Noncatalytic Mechanism of IKK Inhibition by A20

(2011) Brian Skaug et al.   MOLECULAR CELL

SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis

(2011) Fumiyo Ikeda et al.   NATURE

Linear ubiquitination prevents inflammation and regulates immune signalling

(2011) Björn Gerlach et al.   NATURE

A20 (TNFAIP3) deficiency in myeloid cells triggers erosive polyarthritis resembling rheumatoid arthritis

(2011) Mourad Matmati et al.   NATURE GENETICS

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

Will the Ubiquitin System Furnish as Many Drug Targets as Protein Kinases?

(2010) Philip Cohen et al.   CELL

The Functional Roles of Lipid Rafts in T Cell Activation, Immune Diseases and HIV Infection and Prevention

(2010) Cheng Luo et al.   Cellular & Molecular Immunology

TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1 are associated with clinical features of systemic lupus erythematosus in a Chinese Han population

(2010) C-F. He et al.   LUPUS

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

(2010) Capucine Picard et al.   MEDICINE

Oncogenically active MYD88 mutations in human lymphoma

(2010) Vu N. Ngo et al.   NATURE

Helical assembly in the MyD88–IRAK4–IRAK2 complex in TLR/IL-1R signalling

(2010) Su-Chang Lin et al.   NATURE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

(2010) Omar M E Albagha et al.   NATURE GENETICS

ZAP70: a master regulator of adaptive immunity

(2010) Alain Fischer et al.   Seminars in Immunopathology

Psoriasis Bench to Bedside

(2009) Rajan P. Nair et al.   ARCHIVES OF DERMATOLOGY

CYLD: a tumor suppressor deubiquitinase regulating NF-κB activation and diverse biological processes

(2009) S-C Sun   CELL DEATH AND DIFFERENTIATION

Molecular discrimination of structurally equivalent Lys 63-linked and linear polyubiquitin chains

(2009) David Komander et al.   EMBO REPORTS

Hypomorphic mutation ofZAP70in human results in a late onset immunodeficiency and no autoimmunity

(2009) Capucine Picard et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Cdcs1 a major colitis susceptibility locus in mice; Subcongenic analysis reveals genetic complexity

(2009) Andre Bleich et al.   INFLAMMATORY BOWEL DISEASES

An Oligomeric Signaling Platform Formed by the Toll-like Receptor Signal Transducers MyD88 and IRAK-4

(2009) Precious G. Motshwene et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Th17 cells and IL-17 receptor signaling are essential for mucosal host defense against oral candidiasis

(2009) Heather R. Conti et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Structural Basis for Recognition of Diubiquitins by NEMO

(2009) Yu-Chih Lo et al.   MOLECULAR CELL

Direct activation of protein kinases by unanchored polyubiquitin chains

(2009) Zong-Ping Xia et al.   NATURE

Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus

(2009) Jian-Wen Han et al.   NATURE GENETICS

Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus

(2009) C. O. Jacob et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of the phosphorylation sites on the E3 ubiquitin ligase Pellino that are critical for activation by IRAK1 and IRAK4

(2009) H. Smith et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Act1, a U-box E3 Ubiquitin Ligase for IL-17 Signaling

(2009) C. Liu et al.   Science Signaling

Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma

(2008) Simon Morton et al.   FEBS LETTERS

Regulation of IκB Kinase-related Kinases and Antiviral Responses by Tumor Suppressor CYLD

(2008) Minying Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deubiquitinating enzyme CYLD negatively regulates RANK signaling and osteoclastogenesis in mice

(2008) Wei Jin et al.   JOURNAL OF CLINICAL INVESTIGATION

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus

(2008) Robert R Graham et al.   NATURE GENETICS

Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus

(2008) Stacy L Musone et al.   NATURE GENETICS