Human striatal progenitor cells that contain inducible safeguards and overexpress BDNF rescue Huntington’s disease phenotypes

Authors: Simmons, Danielle A. ^{1, 5, ∗}, Selvaraj, Sridhar ^{2, 5}, Chen, Tingshuo ¹, Cao, Gloria ¹, Camelo, Talita Souto ¹, McHugh, Tyne L.M. ¹, Gonzalez, Selena ¹, Martin, Renata M. ², Simanauskaite, Juste ¹, Uchida, Nobuko ², Porteus, Matthew H. ^{2, 3, 6}, Longo, Frank M. ^{1, 4, 6}

Source: In Molecular Therapy - Methods & Clinical Development 13 March 2025 33(1)

Dual α-globin-truncated erythropoietin receptor knockin restores hemoglobin production in α-thalassemia-derived erythroid cells

Authors: Chu, Simon N. ^{1, 2, 3}, Soupene, Eric ⁴, Sharma, Devesh ^{1, 2}, Sinha, Roshani ^{1, 2}, McCreary, Travis ^{1, 2}, Hernandez, Britney ⁵, Shen, Huifeng ⁵, Wienert, Beeke ⁶, Bowman, Chance ^{1, 2, 7}, Yin, Han ^{1, 3}, Lesch, Benjamin J. ^{1, 2, 7}, Jia, Kun ^{1, 2}, Romero, Kathleen A. ⁵, Kostamo, Zachary ⁵, Zhang, Yankai ⁵, Tran, Tammy ^{1, 2}, Cordero, Marco ^{1, 2}, Homma, Shota ⁸, Hampton, Jessica P. ⁹, Gardner, James M. ^{1, 3}, Conklin, Bruce R. ^{6, 10}, MacKenzie, Tippi C. ^{1, 2}, Sheehan, Vivien A. ⁵, Porteus, Matthew H. ⁹, Cromer, M. Kyle ^{1, 2, 7, 11, ∗}

Source: In Cell Reports 28 January 2025 44(1)

A differentiated β-globin gene replacement strategy uses heterologous introns to restore physiological expression

Authors: Wallace, Kirby A. ^{1, 2}, Gerstenberg, Trevor L. ¹, Ennis, Craig L. ¹, Perez-Bermejo, Juan A. ¹, Partridge, James R. ¹, Bandoro, Christopher ¹, Matern, William M. ¹, Andreoletti, Gaia ¹, Krassovsky, Kristina ¹, Kabir, Shaheen ¹, Lalisan, Cassandra D. ¹, Churi, Aishwarya R. ¹, Chew, Glen M. ¹, Corbo, Lana ¹, Vincelette, Jon E. ¹, Klasson, Timothy D. ¹, Silva, Brian J. ¹, Strukov, Yuri G. ¹, Quejarro, B. Joy ¹, Hill, Kaisle A. ¹, Treusch, Sebastian ¹, Grogan, Jane L. ¹, Dever, Daniel P. ¹, Porteus, Matthew H. ^{2, ∗}, Wienert, Beeke ^{1, ∗∗}

Source: In Molecular Therapy February 2025

Failure of metabolic checkpoint control during late-stage granulopoiesis drives neutropenia in reticular dysgenesis

Authors: Wang, Wenqing ¹, Arreola, Martin ¹, Mathews, Thomas ², DeVilbiss, Andrew ², Zhao, Zhiyu ², Martin-Sandoval, Misty ², Mohammed, Abdulvasey ¹, Benegiamo, Giorgia ³, Awani, Avni ¹, Goeminne, Ludger ³, Dever, Daniel ¹, Nakauchi, Yusuke ⁴, Porteus, Matthew H. ¹, Pavel-Dinu, Mara ¹, Al-Herz, Waleed ⁵, Auwerx, Johan ³, Morrison, Sean J. ^{2, 6}, Weinacht, Katja G. ^{1, ∗}

Source: In Blood 26 December 2024 144(26):2718-2734

Human assembloids reveal the consequences of CACNA1G gene variants in the thalamocortical pathway

Authors: Kim, Ji-il, Miura, Yuki, Li, Min-Yin, Revah, Omer, Selvaraj, Sridhar, Birey, Fikri, Meng, Xiangling, Thete, Mayuri Vijay, Pavlov, Sergey D., Andersen, Jimena, Pașca, Anca M., Porteus, Matthew H., Huguenard, John R., Pașca, Sergiu P.

Source: In Neuron 18 December 2024 112(24):4048-4059

Lineage-tracing hematopoietic stem cell origins in vivo to efficiently make human HLF+ HOXA+ hematopoietic progenitors from pluripotent stem cells

Authors: Fowler, Jonas L., Zheng, Sherry Li, Nguyen, Alana, Chen, Angela, Xiong, Xiaochen, Chai, Timothy, Chen, Julie Y., Karigane, Daiki, Banuelos, Allison M., Niizuma, Kouta, Kayamori, Kensuke, Nishimura, Toshinobu, Cromer, M. Kyle, Gonzalez-Perez, David, Mason, Charlotte, Liu, Daniel Dan, Yilmaz, Leyla, Miquerol, Lucile, Porteus, Matthew H., Luca, Vincent C., Majeti, Ravindra, Nakauchi, Hiromitsu, Red-Horse, Kristy, Weissman, Irving L., Ang, Lay Teng, Loh, Kyle M.

Source: In Developmental Cell 6 May 2024 59(9):1110-1131

Genetically corrected RAG2-SCID human hematopoietic stem cells restore V(D)J-recombinase and rescue lymphoid deficiency

Authors: Pavel-Dinu, Mara, Gardner, Cameron L., Nakauchi, Yusuke, Kawai, Tomoki, Delmonte, Ottavia M., Palterer, Boaz, Bosticardo, Marita, Pala, Francesca, Viel, Sebastien, Malech, Harry L., Ghanim, Hana Y., Bode, Nicole M., Kurgan, Gavin L., Detweiler, Angela M., Vakulskas, Christopher A., Neff, Norma F., Sheikali, Adam, Menezes, Sherah T., Chrobok, Jade, Hernández González, Elaine M., Majeti, Ravindra, Notarangelo, Luigi D., Porteus, Matthew H.

Source: In Blood Advances 9 April 2024 8(7):1820-1833

A simultaneous knockout knockin genome editing strategy in HSPCs potently inhibits CCR5- and CXCR4-tropic HIV-1 infection

Authors: Dudek, Amanda M., Feist, William N., Sasu, Elena J., Luna, Sofia E., Ben-Efraim, Kaya, Bak, Rasmus O., Cepika, Alma-Martina, Porteus, Matthew H.

Source: In Cell Stem Cell 4 April 2024 31(4):499-518

Investigating adverse genomic and regulatory changes caused by replacement of the full-length CFTR cDNA using Cas9 and AAV

Authors: Vaidyanathan, Sriram, Kerschner, Jenny L., Paranjapye, Alekh, Sinha, Vrishti, Lin, Brian, Bedrosian, Tracy A., Thrasher, Adrian J., Turchiano, Giandomenico, Harris, Ann, Porteus, Matthew H.

Source: In Molecular Therapy - Nucleic Acids 12 March 2024 35(1)

Comparative analysis of CRISPR off-target discovery tools following ex vivo editing of CD34+ hematopoietic stem and progenitor cells

Authors: Cromer, M. Kyle, Majeti, Kiran R., Rettig, Garrett R., Murugan, Karthik, Kurgan, Gavin L., Bode, Nicole M., Hampton, Jessica P., Vakulskas, Christopher A., Behlke, Mark A., Porteus, Matthew H.

Source: Molecular therapy. 31(4):1074-1087

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194465251.0x000001&indx=1&recIds=ETOCvdc_100194465251.0x000001

Molecular dynamics of genome editing with CRISPR-Cas9 and rAAV6 virus in human HSPCs to treat sickle cell disease

Authors: Xu, Liwen, Lahiri, Premanjali, Skowronski, Jason, Bhatia, Neehar, Lattanzi, Annalisa, Porteus, Matthew H.

Source: In Molecular Therapy - Methods & Clinical Development 14 September 2023 30:317-331

Gene regulation in inborn errors of immunity: Implications for gene therapy design and efficacy.

Authors: Ghanim, Hana Y.^1,2 (AUTHOR), Porteus, Matthew H.^1,2,3 (AUTHOR) mporteus@stanford.edu

Source: Immunological Reviews. Mar2024, Vol. 322 Issue 1, p157-177. 21p.

Subject Terms: *GENE therapy, *GENETIC regulation, *CHRONIC granulomatous disease, *GENE expression, *AGAMMAGLOBULINEMIA, *GENETIC transformation

Targeted replacement of full-length CFTR in human airway stem cells by CRISPR-Cas9 for pan-mutation correction in the endogenous locus

Authors: Vaidyanathan, Sriram, Baik, Ron, Chen, Lu, Bravo, Dawn T., Suarez, Carlos J., Abazari, Shayda M., Salahudeen, Ameen A., Dudek, Amanda M., Teran, Christopher A., Davis, Timothy H., Lee, Ciaran M., Bao, Gang, Randell, Scott H., Artandi, Steven E., Wine, Jeffrey J., Kuo, Calvin J., Desai, Tushar J., Nayak, Jayakar V., Sellers, Zachary M., Porteus, Matthew H.

Source: Molecular therapy. 30(1):223-237

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100170950159.0x000001&indx=1&recIds=ETOCvdc_100170950159.0x000001

Hematopoietic stem cell gene editing and expansion: State-of-the-art technologies and recent applications

Authors: Haltalli, Myriam L.R., Wilkinson, Adam C., Rodriguez-Fraticelli, Alejo, Porteus, Matthew

Source: Experimental hematology. 107:9-13

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100156893504.0x000001&indx=1&recIds=ETOCvdc_100156893504.0x000001

A Curative DNA Code for Hematopoietic Defects: Novel Cell Therapies for Monogenic Diseases of the Blood and Immune System

Authors: Porteus, Matthew H., Pavel-Dinu, Mara, Pai, Sung-Yun

Source: In Hematology/Oncology Clinics of North America August 2022 36(4):647-665

Generating human artery and vein cells from pluripotent stem cells highlights the arterial tropism of Nipah and Hendra viruses

Authors: Ang, Lay Teng, Nguyen, Alana T., Liu, Kevin J., Chen, Angela, Xiong, Xiaochen, Curtis, Matthew, Martin, Renata M., Raftry, Brian C., Ng, Chun Yi, Vogel, Uwe, Lander, Angelika, Lesch, Benjamin J., Fowler, Jonas L., Holman, Alyssa R., Chai, Timothy, Vijayakumar, Siva, Suchy, Fabian P., Nishimura, Toshinobu, Bhadury, Joydeep, Porteus, Matthew H., Nakauchi, Hiromitsu, Cheung, Christine, George, Steven C., Red-Horse, Kristy, Prescott, Joseph B., Loh, Kyle M.

Source: In Cell 7 July 2022 185(14):2523-2541

Engineering synthetic signaling receptors to enable erythropoietin-free erythropoiesis.

Authors: Shah, Aadit P., Majeti, Kiran R., Ekman, Freja K., Selvaraj, Sridhar, Sharma, Devesh, Sinha, Roshani, Soupene, Eric, Chati, Prathamesh, Luna, Sofia E., Charlesworth, Carsten T., McCreary, Travis, Lesch, Benjamin J., Tran, Tammy, Chu, Simon N., Porteus, Matthew H., Kyle Cromer, M.

Source: Nature Communications; 1/29/2025, Vol. 16 Issue 1, p1-15, 15p

Subject Terms: INDUCED pluripotent stem cells, SYNTHETIC receptors, LIFE sciences, CYTOLOGY, GENOME editing, ERYTHROPOIETIN receptors

Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency

Authors: Fañanas-Baquero, Sara, Quintana-Bustamante, Oscar, Dever, Daniel P., Alberquilla, Omaira, Sanchez-Dominguez, Rebeca, Camarena, Joab, Ojeda-Perez, Isabel, Dessy-Rodriguez, Mercedes, Turk, Rolf, Schubert, Mollie S., Lattanzi, Annalisa, Xu, Liwen, Lopez-Lorenzo, Jose L., Bianchi, Paola, Bueren, Juan A., Behlke, Mark A., Porteus, Matthew, Segovia, Jose-Carlos

Source: In Molecular Therapy - Methods & Clinical Development 10 September 2021 22:237-248

Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing

Authors: Bonafont, Jose, Mencía, Angeles, Chacón-Solano, Esteban, Srifa, Wai, Vaidyanathan, Sriram, Romano, Rosa, Garcia, Marta, Hervás-Salcedo, Rosario, Ugalde, Laura, Duarte, Blanca, Porteus, Matthew H., Del Rio, Marcela, Larcher, Fernando, Murillas, Rodolfo

Source: In Molecular Therapy 2 June 2021 29(6):2008-2018

Enhanced homology-directed repair for highly efficient gene editing in hematopoietic stem/progenitor cells

Authors: De Ravin, Suk See ^*, Brault, Julie, Meis, Ronald J., Liu, Siyuan, Li, Linhong, Pavel-Dinu, Mara, Lazzarotto, Cicera R., Liu, Taylor, Koontz, Sherry M., Choi, Uimook, Sweeney, Colin L., Theobald, Narda, Lee, GaHyun, Clark, Aaron B., Burkett, Sandra S., Kleinstiver, Benjamin P., Porteus, Matthew H., Tsai, Shengdar, Kuhns, Douglas B., Dahl, Gary A., Headey, Stephen, Wu, Xiaolin, Malech, Harry L. ^*

Source: In Blood 13 May 2021 137(19):2598-2608