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Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Probable ATP-dependent RNA helicase DDX58

The DDX58 gene encodes a protein of the innate immune response which binds viral double-strand RNA and caspase. Mutations are responsible for autosomal dominant Singleton-Merten syndrome 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Singleton-Merten syndrome 2
DDX58

References:

1.

Saito T et al. (2007) Regulation of innate antiviral defenses through a shared repressor domain in RIG-I and LGP2.

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2.

MacNair L et al. (2016) MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis.

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3.

Jang MA et al. (2015) Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

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4.

Goubau D et al. (2014) Antiviral immunity via RIG-I-mediated recognition of RNA bearing 5'-diphosphates.

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5.

Peisley A et al. (2014) Structural basis for ubiquitin-mediated antiviral signal activation by RIG-I.

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6.

Jiang F et al. (2011) Structural basis of RNA recognition and activation by innate immune receptor RIG-I.

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7.

Kok KH et al. (2011) The double-stranded RNA-binding protein PACT functions as a cellular activator of RIG-I to facilitate innate antiviral response.

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8.

Oshiumi H et al. (2010) The ubiquitin ligase Riplet is essential for RIG-I-dependent innate immune responses to RNA virus infection.

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9.

Myong S et al. (2009) Cytosolic viral sensor RIG-I is a 5'-triphosphate-dependent translocase on double-stranded RNA.

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10.

Zhang NN et al. (2008) RIG-I plays a critical role in negatively regulating granulocytic proliferation.

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11.

Arimoto K et al. (2007) Negative regulation of the RIG-I signaling by the ubiquitin ligase RNF125.

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12.

Gack MU et al. (2007) TRIM25 RING-finger E3 ubiquitin ligase is essential for RIG-I-mediated antiviral activity.

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13.

Haralambieva IH et al. (2011) Genetic polymorphisms in host antiviral genes: associations with humoral and cellular immunity to measles vaccine.

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14.

Hornung V et al. (2006) 5'-Triphosphate RNA is the ligand for RIG-I.

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15.

Pichlmair A et al. (2006) RIG-I-mediated antiviral responses to single-stranded RNA bearing 5'-phosphates.

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16.

Kato H et al. (2005) Cell type-specific involvement of RIG-I in antiviral response.

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17.

Breiman A et al. (2005) Inhibition of RIG-I-dependent signaling to the interferon pathway during hepatitis C virus expression and restoration of signaling by IKKepsilon.

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18.

Li K et al. (2005) Distinct poly(I-C) and virus-activated signaling pathways leading to interferon-beta production in hepatocytes.

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19.

Imaizumi T et al. () Interferon-gamma induces retinoic acid-inducible gene-I in endothelial cells.

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20.

Imaizumi T et al. (2004) Expression of retinoic acid-inducible gene-I in vascular smooth muscle cells stimulated with interferon-gamma.

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21.

Yoneyama M et al. (2004) The RNA helicase RIG-I has an essential function in double-stranded RNA-induced innate antiviral responses.

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22.

Cui XF et al. (2004) Retinoic acid-inducible gene-I is induced by interferon-gamma and regulates the expression of interferon-gamma stimulated gene 15 in MCF-7 cells.

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23.

Imaizumi T et al. (2002) Retinoic acid-inducible gene-I is induced in endothelial cells by LPS and regulates expression of COX-2.

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24.

Kato H et al. (2006) Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses.

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Update: Aug. 14, 2020
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