Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. (Q49874702)

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9 April 2020

title

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors (English)

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18

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49

Ivona Aksentijevich

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48

Daniel L Kastner

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Elaine F Remmers

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Martha M Quezado

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Julie E Niemela

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Massimo Gadina

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Raman Sood

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44

Sergio D Rosenzweig

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Wanxia Li Tsai

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Yong Hwan Park

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29

Manfred Boehm

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1

Angeliki Giannelou

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Anna Sediva

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20

Jehad H Edwan

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Gustavo Gutierrez-Cruz

39

object named as

Gustavo Gutierrez-Cruz

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author name string

Hongying Wang

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Mones S Abu-Asab

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Dan Yang

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Stephen Brooks

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language of work or name

English

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publication date

22 January 2018

1 reference

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Annals of the Rheumatic Diseases

9 April 2020

published in

1 reference

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9 April 2020

volume

77

1 reference

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issue

4

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9 April 2020

page(s)

612-619

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The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation

9 April 2020

cites work

1 reference

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Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa.

30 June 2018

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Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

30 June 2018

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Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.

30 June 2018

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Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction

30 June 2018

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30 June 2018

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Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.

30 June 2018

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Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

30 June 2018

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The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

30 June 2018

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Necroptosis and its role in inflammation

30 June 2018

1 reference

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New players driving inflammation in monogenic autoinflammatory diseases

30 June 2018

1 reference

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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

30 June 2018

1 reference

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A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

30 June 2018

1 reference

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Necroptosis: the release of damage-associated molecular patterns and its physiological relevance

30 June 2018

1 reference

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

30 June 2018

1 reference

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A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

30 June 2018

1 reference

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Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

30 June 2018

1 reference

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tRNAs marked with CCACCA are targeted for degradation

30 June 2018

1 reference

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Dynamics of the degradation of ubiquitinated proteins by proteasomes and autophagy: association with sequestosome 1/p62.

30 June 2018

1 reference

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Autophagy proteins regulate innate immune responses by inhibiting the release of mitochondrial DNA mediated by the NALP3 inflammasome

30 June 2018

1 reference

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A role for mitochondria in NLRP3 inflammasome activation

30 June 2018

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Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems

30 June 2018

1 reference

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Natural killer cells are polarized toward cytotoxicity in chronic hepatitis C in an interferon-alfa-dependent manner

30 June 2018

1 reference

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Necrosis is associated with IL-6 production but apoptosis is not.

30 June 2018

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IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin

30 June 2018

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Crystal structure of the human CCA-adding enzyme: insights into template-independent polymerization

30 June 2018

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30 June 2018

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Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood

14 August 2018

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10.1136/ANNRHEUMDIS-2017-212401

30 November 2018

Identifiers

DOI

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9 April 2020

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9 April 2020

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