Anthony K. Shum

The COPI coatomer influences LDL receptor activity, hepatic lipid storage, and apoB secretion

Grigorios Panteloglou, J Robert, Marieke Smit, Nicolette Huijkman et autres

BACKGROUND AND AIMS: Decreased removal and increased production of apolipoprotein B (apoB) containing lipoproteins cause hypercholesterolemia, a major causal risk factor of atherosclerotic cardiovascular disease. By a genome-wide siRNA screen, we previously identified subunits of the Coat protein I (COPI) complex to …

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COPI Coatomer Regulates Several Steps of HDL Metabolism

Grigorios Panteloglou, Paolo Zanoni, Christopher S. Law, Brian Woods et autres

Abstract Background Reverse cholesterol transport by high density lipoproteins (HDL) is considered as an anti-atherogenic metabolic pathway. Hepatocytes determine the efficacy of this pathway by the production of apolipoprotein A-I (apoA-I) and its lipidation by ATP binding cassette transporter A1 (ABCA1), selective …

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Reply to Fiorentù et al .: Lymphoid follicles in the lung complement lymph node activation in IPF

Tania E Velez, Vaibhav Upadhyay, Imre Noth, Anthony K. Shum et autres

Tania E Velez, Vaibhav Upadhyay, Imre Noth, Anthony K Shum, Anne I Sperling; Reply to Fiorentù et al.: Lymphoid follicles in the lung complement lymph node

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COPA syndrome spans multiple organs but is defined by STING in the lung

Anthony K. Shum

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Active Antigen-Specific Adaptive Immune Responses Are Shared among Patients with Progressive Fibrotic Interstitial Lung Disease

Tania Estefania Velez, Young me Yoon, Vaibhav Upadhyay, Sara E. Vazquez et autres

Abstract Rationale Enlargement of lung-associated lymph nodes (LNs) predicts worse survival in all patients with interstitial lung disease (ILD). This phenomenon occurs in both connective tissue disease–associated ILD and, surprisingly, idiopathic pulmonary fibrosis (IPF), where immune-driven pathogenesis is controversial. Objectives To determine …

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Activated STING in the thymic epithelium alters T cell development and selection leading to autoimmunity

Zimu Deng, Christopher S. Law, Santosh Kurra, Noa Simchoni et autres

Coatomer protein complex subunit α (COPA) syndrome is a monogenic disorder of immune dysregulation that leads to interstitial lung disease and high-titer autoantibodies. Constitutive activation of the innate immune molecule stimulator of interferon genes (STING) is centrally involved in disease. However, the …

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Functional Validation of Variants of Unknown Significance in COPA Syndrome

Noa Simchoni, Samrawit Agezew, Anthony K. Shum

Abstract RATIONALE: COPA Syndrome is characterized by childhood onset of interstitial lung disease, high-titer autoantibodies, and inflammatory arthritis. It is caused by autosomal dominant missense mutations in the coatomer subunit alpha (COPA) gene encoding the alpha subunit of the coatomer complex (COP-I). …

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The common HAQ STING allele prevents clinical penetrance of COPA syndrome

Noa Simchoni, Shogo Koide, Maryel Likhite, Yoshihiko Kuchitsu et autres

COPA syndrome, an autosomal-dominant inborn error of immunity, is nonpenetrant in ∼20% of individuals, with no known mediators of protection. Recent studies implicate STING in the pathogenesis of COPA syndrome. We show that the common HAQ STING allele mediates complete clinical protection. …

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Phage Immunoprecipitation‐Sequencing Reveals CDHR5 Autoantibodies in Select Patients With Interstitial Lung Disease

Vaibhav Upadhyay, Young me Yoon, Sara E. Vazquez, Tania Estefania Velez et autres

OBJECTIVE: Interstitial lung diseases (ILDs) are a heterogeneous group of disorders that can develop in patients with connective tissue diseases. Establishing autoimmunity in ILD impacts prognosis and treatment. Patients with ILD are screened for autoimmunity by measuring antinuclear autoantibodies, rheumatoid factors, and …

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Antigenic Responses Are Hallmarks of Fibrotic Interstitial Lung Diseases Independent of Underlying Etiologies

Anne I. Sperling, Tania E. Velez, Vaibhav Upadhyay, Sara E. Vazquez et autres

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Activated STING in the thymus alters T cell development and selection leading to autoimmunity

Zimu Deng, Christopher S. Law, Santosh Kurra, Noa Simchoni et autres

Classifying systemic inflammatory disorders as autoinflammatory or autoimmune provides insight into disease pathogenesis and whether treatment should target innate molecules and their signaling pathways or the adaptive immune response. COPA syndrome is a monogenic disorder of immune dysregulation that leads to interstitial …

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Pathogenic COPA mutations decrease binding of dilysine motifs through allosteric effects

Ànna Pavlova, Sasthi C. Mandal, Noa Simchoni, Christopher S. Law et autres

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