| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8261311 | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 2012 | 8 Pages |
Abstract
⺠RAPADILINO syndrome is associated with mutations in RECQL4. ⺠We characterize RAPADILINO RECQL4's catalytic activities relative to WT RECQL4. ⺠We show that RAPADILINO RECQL4 lacks helicase and ssDNA-dependent ATPase activity. ⺠RAPADILINO and RTS patients may develop cancer due to loss of helicase activity.
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Authors
Deborah L. Croteau, Marie L. Rossi, Jennifer Ross, Lale Dawut, Christopher Dunn, Tomasz Kulikowicz, Vilhelm A. Bohr,