Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel <i>ERCC8</i> variants

Nguyen Thuy Duong; Tran Huu Dinh; Britta S. M&#xF6;hl; Stefan Hintze; Do Hai Quynh; Duong Thi Thu Ha; Ngo Diem Ngoc; Vu Chi Dung; Noriko Miyake; Nong Van Hai; Naomichi Matsumoto; Peter Meinke

doi:doi:10.18632/aging.204139

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Research Paper Volume 14, Issue 13 pp 5299—5310

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants

Figure 5. Structural analysis of WD40-propeller variant p.G162R in CSA. Structural view of (A) WT and (B) the p.G162R variant. The CSA structure comprising the seven-bladed WD40 propeller and the helix-loop-helix motif is shown as a ribbon diagram, with p.G162R highlighted in red dots and interacting amino acids in orange sticks, as well as the amino acids relevant for TRiC-association in blue dots. The structural view of CSA (PDB entry 4A11) [13] was generated using the PyMOL molecular graphics system, version 2.4, Schrödinger, LLC.