Pavel-Dinu Laboratory

Failure of metabolic checkpoint control during late-stage granulopoiesis drives neutropenia in reticular dysgenesis.
Wang W, Arreola M, Mathews T, DeVilbiss AW, Zhao Z, Martin-Sandoval M, Mohammed A, Benegiamo G, Awani A, Goeminne LJE, Dever DP, Nakauchi Y, Porteus MH, Pavel-Dinu M, Al Herz W, Auwerx J, Morrison SJ, Weinacht KG.
Blood. 2024 Oct 8:blood.2024024123. doi: 10.1182/blood.2024024123. Online ahead of print. Full Text

Strategic infection prevention after genetically modified hematopoietic stem cell therapies: recommendations from the International Society for Cell & Gene Therapy Stem Cell Engineering Committee.
John TD, Maron G, Abraham A, Bertaina A, Bhoopalan SV, Bidgoli A, Bonfim C, Coleman Z, DeZern A, Li J, Louis C, Oved J, Pavel-Dinu M, Purtill D, Ruggeri A, Russell A, Wynn R, Boelens JJ, Prockop S, Sharma A.
Cytotherapy. 2024 Jul;26(7):660-671.  Full Text

Genetically corrected RAG2-SCID human hematopoietic stem cells restore V(D)J-recombinase and rescue lymphoid deficiency.
Pavel-Dinu M*, Gardner CL*(* = co-first author), Nakauchi Y, Kawai T, Demonte OM, Palterer B, Bosticardo M, Pala F, Viel S, Malech HL, Ghanim HY, Bode NM, Kurgan GL, Detweiler AM, Vakulskas CA, Neff NF, Skeikali A, Menezes ST, Chrobok J, Hernandez Gonzalez EM, Majeti R, Notarangelo LD, Porteus MH:
Blood Adv. 2024 Apr 9;8(7):1820-1833.  Full Text

International Society of Cell & Gene Therapy Stem Cell Engineering Committee: Cellular therapies for the treatment of graft-versus -host-disease after hematopoietic stem cell transplant.
Moises Garcia-Rosa, Allistair Abraham, Alice Bertaina, Senthil Velan Bhoopalan, Carmem Bonfim, Sandra Cohen, Amy DeZern, Chrystal Louis, Joseph Oved, Mara Pavel-Dinu, Duncan Purtill, Annalisa Ruggeri, Athena Russell, Akshay Sharma, Robert Wynn, Jaap Jan Boelens, Susan Prockop.
Cytotherapy. 2023 June;25(6):578-589.  Full Text

DNA-PKcs inhibition results in higher genome editing frequencies of HDR compared to INDELs in human primary cells.
Sridhar Selvaraj, William N. Feist,  Sebastien Viel, Sriram Vaidyanathan, Amanda M. Dudek, Marc Gastou, Sarah J. Rockwood, Freja K. Ekman, Aluya R. Oseghale, Liwen Xu, Mara Pavel-Dinu, Sofia E. Luna, M. Kyle Cromer, Ruhi Sayana, Natalia Gomez-Ospina, Matthew H. Porteus.
Nature Biotechnol, 2023 Aug 3.  Full Text

CRISPR-Cas9-AAV versus lentivector transduction for genome modification of X-Linked Severe Combined Immunodeficiency Hematopoietic Stem Cells.
Juliet Brault, Taylor Liu, Siyuan Liu, Amanda Lawson, Uimook Choi, Mara Pavel-Dinu, Ronald J. Meis, Michael A. Eckhaus, Sandra S. Burkett, Marita Bosticardo, Benjamin P. Kleinstiver, Luigi D. Notarangelo, Cicera R. Lazzarotto, Shengdar Q. Tsai, Xiaolin Wu, Gary A. Dahl, Matthew Porteus, Harry L. Malech, and Suk See De Ravin.
Front Immunol. 2023 Jan 4;13:1067417.  Full Text

Enhanced Homology- directed Repair for Highly Efficient Gene Editing in Hematopoietic Stem/Progenitor Cells.
Suk See De Ravin, Julie Brault, Ronald J. Meis, Siyuan Liu, Linhong Li, Mara Pavel-Dinu, Cicera R. Lazzarotto, Taylor Liu, Sherry M. Koontz, Uimook Choi, Colin L. Sweeney, Narda Theobald, Ga Hyun Lee, Aaron B. Clark, Sandra S. Burkett, Benjamin P. Kleinstiver, Matthew H. Porteus, Shengdar Tsai, Douglas B Kuhns, Gary A. Dahl, Stephen Headey, Xiaolin Wu, Harry L. Malech.
Blood. 2021. Feb 23;blood.2020008503.  Full Text

Correction of X-CGD patient HSPCs by targeted CYBB cDNA insertion using CRISPR/Cas9 with 53BP1 inhibition for enhanced homology-directed repair.
Colin Sweeney*, Mara Pavel-Dinu* (* = co-first author), Uimook Choi, Julie Brault, Taylor Liu, Sherry Koontz, Linhong Li, Narda Theobald, Janet Lee, Ezekiel Bello, Xiaolin Wu, Ronald Meis, Gary Dahl, Matthew Porteus, Harry Malech, and Suk See De Ravin.
Gene Therapy, 2021 Mar 12.  Full Text

Gene editing rescues in vitro T cell development of RAG2-deficient induced pluripotent stem cells in an artificial thymic organoid system.
Cameron L. Gardner*, Mara Pavel-Dinu* (* = co-first author), Kerry Dobbs, Marita Bosticardo, P.K. Reardon, Justin Lack, Suk See DeRavin, Kent Le, Ezekiel Bello, Francesca Pala, Ottavia M. Delonte, Harry Malech, Amelia Montel-Hagan, Gay Crooks, Oreste Acuto, Matthew H. Porteus, Luigi D. Notarangelo.
Journal of Clinical Immunology, 2021, Mar 1.  Full Text

Improved genome editing through inhibition of FANCM and members of the BTR dissolvase complex.
Alecastro de G, Puzzo F, Pavel-Dinu M, Zhang F, Pillay S, Majzoub K, Tiffany M, Jang H, Sheikali A, Cromer KM, Meetei R., Carette JE, Porteus MH, Pekrun K and Kay M.
Molecular Therapy. 2021. March 3; 29(3), 1016-1027.  Full Text

CRISPR- based gene editing enables FOXP3 gene repair in IPEX patient cells.
M. Goodwin, E. Lee, U. Lakshmanan, S. Shipp, L. Froessl, F. Barzaghi, L. Passerini   M. Narula, A. Sheikali, C. M. Lee, G. Bao, C. S. Bauer, H. K. Miller, M. Garcia-Lloret, M. J. Butte, A. Bertaina, A. Shah, M. Pavel-Dinu, A. Hendel, M. Porteus, M. G. Roncarolo, R. Bacchetta.
Science Adv. 2020.  May 6; 6(19):eaaz0571.  Full Text

High-efficient CRISPR induction of t(9;11) chromosomal translocations and acute leukemias in human blood stem cells.
Jeong J, Jager A, Domizi P, Pavel-Dinu M, Gojenola L, Iwasaki M, Wei MC, Pan F, Zehnder JL, Porteus MH, Davis KL, Cleary ML.
Blood Adv. 2019 Oct 8;3(19):2825-2835.  Full Text

Highly efficient and marker-free genome editing of human pluripotent stem cells by CRISPR-Cas9 RNP and AAV6 donor-mediated homologous recombination.
Martin RM, Ikeda K, Cromer MK, Uchida N, Nishimura T, Romano R, Tong AJ, Lemgart  VT, Camarena J, Pavel-Dinu M, Sindhu C, Wiebking V, Vaidyanathan S, Dever DP, Bak RO, Laustsen A, Lesch BJ, Jakobsen MR, Sebastiano V, Nakauchi H, Porteus MH.
Cell Stem Cell. 2019 May 2;24(5):821-828.e5.  Full Text

Gene correction for SCID-X1 in long-term hematopoietic stem cells.
Pavel-Dinu M, Wiebking V, Dejene BT, Srifa W, Mantri S, Nicolas CE, Lee C, Bao G, Kildebeck EJ, Punjya N, Sindhu C, Inlay MA, Saxena N, DeRavin SS, Malech H, Roncarolo MG, Weinberg KI, Porteus MH.
Nat Commun. 2019 Apr 9;10(1):1634.  Full Text

Identification of preexisting adaptive immunity to Cas9 proteins in humans.
Charlesworth CT, Deshpande PS, Dever DP, Camarena J, Lemgart VT, Cromer MK, Vakulskas CA, Collingwood MA, Zhang L, Bode NM, Behlke MA, Dejene B, Cieniewicz B, Romano R, Lesch BJ, Gomez-Ospina N, Mantri S, Pavel-Dinu M, Weinberg KI, Porteus MH.
Nat Med. 2019 Feb;25(2):249-254.  Full Text

A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells.
Vakulskas CA, Dever DP, Rettig GR, Turk R, Jacobi AM, Collingwood MA, Bode NM, McNeill MS, Yan S, Camarena J, Lee CM, Park SH, Wiebking V, Bak RO, Gomez-Ospina N, Pavel-Dinu M, Sun W, Bao G, Porteus MH, Behlke MA.
Nat Med. 2018 Aug;24(8):1216-1224.  Full Text

CRISPR/Cas9 ß-globin gene targeting in human hematopoietic stem cells.
Dever DP, Bak RO, Reinisch A, Camarena J, Washington G, Nicolas CE, Pavel-Dinu M, Saxena N, Wilkens AB, Mantri S, Uchida N, Hendel A, Narla A, Majeti R, Weinberg KI, Porteus MH.
Nature. 2016 Nov 17;539(7629):384-389.  Full Text

Reprogramming towards pluripotency requires AID-dependent DNA demethylation.
Bhutani N, Brady JJ, Damian M, Sacco A, Corbel SY, Blau HM.
Nature. 2010 Feb 25;463(7284):1042-7  Full Text

SIRT6 links histone H3 lysine 9 deacetylation to modulation of NF-κB dependent gene expression and organismal viability.
Kawahara TL*, Michishita E*, Adler AS*, Damian M* (* = co-first author), Berber E*, Lin M, McCord RA, Ongaigui KC, Boxer LD, Chang HY, Chua KF.
Cell. 2009 136(1): 62–74.  Full Text

SIRT6 is a histone H3 lysine 9 deacetylase that modulates telomeric chromatin.
Michishita E, McCord RA, Berber E, Kioi M, Padilla-Nash H, Damian M, Cheung P,  Kusumoto R, Kawahara TL, Barrett JC, Chang HY, Bohr VA, Ried T, Gozani O, Chua KF.
Nature. 2008 Mar 27;452(7186):492-6  Full Text