Associated Papers
CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
Singla A et al.
Bmc Medical Genomics, 2025
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.
Taniguchi K et al.
Molecular Genetics & Genomic Medicine, 2025
Structure and interactions of the endogenous human Commander complex.
Laulumaa S et al.
Nature Structural & Molecular Biology, 2024
Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome.
Healy MD et al.
Cell, 2023
Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.
Rodgers J et al.
American Journal of Medical Genetics. Part A, 2022
Endosomal PI(3)P regulation by the COMMD/CCDC22/CCDC93 (CCC) complex controls membrane protein recycling.
Singla A et al.
Nature Communications, 2019
Identification of a novel CCDC22 mutation in a patient with severe Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia.
Yamashita Y et al.
International Journal of Hematology, 2019
Systems-wide Studies Uncover Commander, a Multiprotein Complex Essential to Human Development.
Mallam AL et al.
Cell Systems, 2017
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
Bartuzi P et al.
Nature Communications, 2016
Endosomal sorting of Notch receptors through COMMD9-dependent pathways modulates Notch signaling.
Li H et al.
The Journal of Cell Biology, 2015
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M et al.
European Journal of Human Genetics : Ejhg, 2015
COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A.
Phillips-Krawczak CA et al.
Molecular Biology of the Cell, 2015
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A et al.
American Journal of Human Genetics, 2013
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
Starokadomskyy P et al.
The Journal of Clinical Investigation, 2013
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.
Voineagu I et al.
Molecular Psychiatry, 2012