Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.P156Q
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CYBA

NM_000101.4:p.P156Q

Associated Papers

Definition and Discovery of Tandem SH3-Binding Motifs Interacting with Members of the p47phox-Related Protein Family.

Kalman ZE et al.

Biomolecules, 2025

Targeted gene editing and near-universal cDNA insertion of CYBA and CYBB as a treatment for chronic granulomatous disease.

Wolff JH et al.

Nature Communications, 2025

40796771 (PubMed )
Supplement: 41467_2025_62738_MOESM1_ESM.pdf

Regulation of Derlin-1-mediated degradation of NADPH oxidase partner p22phox by thiol modification.

Miyano K et al.

Redox Biology, 2022

Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.

Donko A et al.

Journal of Clinical Immunology, 2022

Actin filaments-A target for redox regulation.

Wilson C et al.

Cytoskeleton (hoboken, N.j.), 2016

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.

Stasia MJ

Gene, 2016

Arachidonic acid induces direct interaction of the p67(phox)-Rac complex with the phagocyte oxidase Nox2, leading to superoxide production.

Matono R et al.

The Journal of Biological Chemistry, 2014

N-Linked glycosylation of the superoxide-producing NADPH oxidase Nox1.

Miyano K et al.

Biochemical and Biophysical Research Communications, 2014

Amyloid-β and proinflammatory cytokines utilize a prion protein-dependent pathway to activate NADPH oxidase and induce cofilin-actin rods in hippocampal neurons.

Walsh KP et al.

Plos One, 2014

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Phosphorylation of p22phox on threonine 147 enhances NADPH oxidase activity by promoting p47phox binding.

Lewis EM et al.

The Journal of Biological Chemistry, 2010

Mutational analysis reveals distinct features of the Nox4-p22 phox complex.

von Löhneysen K et al.

The Journal of Biological Chemistry, 2008

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

Direct involvement of the small GTPase Rac in activation of the superoxide-producing NADPH oxidase Nox1.

Miyano K et al.

The Journal of Biological Chemistry, 2006

Expression and function of Noxo1gamma, an alternative splicing form of the NADPH oxidase organizer 1.

Takeya R et al.

The Febs Journal, 2006

Activation of the superoxide-producing phagocyte NADPH oxidase requires co-operation between the tandem SH3 domains of p47phox in recognition of a polyproline type II helix and an adjacent alpha-helix of p22phox.

Nobuhisa I et al.

The Biochemical Journal, 2006

Point mutations in the proline-rich region of p22phox are dominant inhibitors of Nox1- and Nox2-dependent reactive oxygen generation.

Kawahara T et al.

The Journal of Biological Chemistry, 2005

Novel human homologues of p47phox and p67phox participate in activation of superoxide-producing NADPH oxidases.

Takeya R et al.

The Journal of Biological Chemistry, 2003

The NADPH oxidase: lessons from chronic granulomatous disease neutrophils.

Verhoeven AJ

Annals of the New York Academy of Sciences, 1997

Assembly and activation of the phagocyte NADPH oxidase. Specific interaction of the N-terminal Src homology 3 domain of p47phox with p22phox is required for activation of the NADPH oxidase.

Sumimoto H et al.

The Journal of Biological Chemistry, 1996

Multiple SH3 domain interactions regulate NADPH oxidase assembly in whole cells.

de Mendez I et al.

The Embo Journal, 1996

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."