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Select item 104682691.

Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin

PamelaSara E. Head, Sangho Myung, Yong Chen, Jessica L. Schneller, Cindy Wang, Nicholas Duncan, Pauline Hoffman, David Chang, Abigael Gebremariam, Marjan Gucek, Irini Manoli, Charles P. Venditti

Sci Transl Med. Author manuscript; available in PMC 2023 Aug 30.

Published in final edited form as: Sci Transl Med. 2022 May 25; 14(646): eabn4772. Published online 2022 May 25. doi: 10.1126/scitranslmed.abn4772

PMCID:: PMC10468269

Abstract Article PDF–2.6M

Select item 98865522.

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

Patrick Forny, Ximena Bonilla, David Lamparter, Wenguang Shao, Tanja Plessl, Caroline Frei, Anna Bingisser, Sandra Goetze, Audrey van Drogen, Keith Harshman, Patrick G. A. Pedrioli, Cedric Howald, Martin Poms, Florian Traversi, Céline Bürer, Sarah Cherkaoui, Raphael J. Morscher, Luke Simmons, Merima Forny, Ioannis Xenarios, Ruedi Aebersold, Nicola Zamboni, Gunnar Rätsch, Emmanouil T. Dermitzakis, Bernd Wollscheid, Matthias R. Baumgartner, D. Sean Froese

Nat Metab. 2023; 5(1): 80–95. Published online 2023 Jan 26. doi: 10.1038/s42255-022-00720-8

PMCID:: PMC9886552

Abstract Article PDF–11M

Select item 98720493.

Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing

Leah E. Venturoni, Randy J. Chandler, Jing Liao, Victoria Hoffmann, Nikhil Ramesh, Susana Gordo, Nelson Chau, Charles P. Venditti

Mol Genet Metab. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Mol Genet Metab. 2022 Sep-Oct; 137(1-2): 1–8. Published online 2022 Jul 4. doi: 10.1016/j.ymgme.2022.06.011

PMCID:: PMC9872049

Abstract Article PDF–778K

Select item 96674134.

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia

Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini

Cell Rep. Author manuscript; available in PMC 2022 Nov 16.

Published in final edited form as: Cell Rep. 2017 Dec 19; 21(12): 3548–3558. doi: 10.1016/j.celrep.2017.11.081

Correction in:: Cell Rep. 2018 Aug 28; 24(9): 2520.

PMCID:: PMC9667413

Abstract Article PDF–1.9M

Select item 86340445.

In vivo genome editing at the albumin locus to treat methylmalonic acidemia

Jessica L. Schneller, Ciaran M. Lee, Leah E. Venturoni, Randy J. Chandler, Ang Li, Sangho Myung, Thomas J. Cradick, Ayrea E. Hurley, William R. Lagor, Gang Bao, Charles P. Venditti

Mol Ther Methods Clin Dev. 2021 Dec 10; 23: 619–632. Published online 2021 Nov 11. doi: 10.1016/j.omtm.2021.11.004

PMCID:: PMC8634044

Abstract Article PDF–1.6M

Select item 82523836.

Promoterless, Nuclease‐Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia

Randy J. Chandler, Leah E. Venturoni, Jing Liao, Brandon T. Hubbard, Jessica L. Schneller, Victoria Hoffmann, Susana Gordo, Shengwen Zang, Chih‐Wei Ko, Nelson Chau, Kyle Chiang, Mark A. Kay, Adi Barzel, Charles P. Venditti

Hepatology. 2021 Jun; 73(6): 2223–2237. Published online 2021 May 21. doi: 10.1002/hep.31570

Correction in:: Hepatology. 2022 Nov; 76(5): 1551.

PMCID:: PMC8252383

Abstract Article PDF–1.4M

Select item 79387707.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 70331378.

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst

Nat Commun. 2020; 11: 970. Published online 2020 Feb 20. doi: 10.1038/s41467-020-14729-8

Correction in:: Nat Commun. 2020; 11: 1719.

PMCID:: PMC7033137

Abstract Article PDF–4.9M

Select item 69036849.

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.

Parith Wongkittichote, Gary Cunningham, Marshall L. Summar, Elena Pumbo, Patrick Forny, Matthias R. Baumgartner, Kimberly A. Chapman

Mol Genet Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Mol Genet Metab. 2019 Dec; 128(4): 444–451. Published online 2019 Oct 17. doi: 10.1016/j.ymgme.2019.10.007

PMCID:: PMC6903684

Abstract Article PDF–826K

Select item 669390410.

Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging

KowsalyaDevi Pavuluri, Irini Manoli, Alexandra Pass, Yuguo Li, Hilary J. Vernon, Charles P. Venditti, Michael T. McMahon

Sci Adv. 2019 Aug; 5(8): eaaw8357. Published online 2019 Aug 14. doi: 10.1126/sciadv.aaw8357

PMCID:: PMC6693904

Abstract Article PDF–1.5M

Select item 664233211.

Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia

Ding An, Andrea Frassetto, Eric Jacquinet, Marianne Eybye, Joseph Milano, Christine DeAntonis, Vi Nguyen, Rodrigo Laureano, Jaclyn Milton, Staci Sabnis, Christine M. Lukacs, Lin T. Guey

EBioMedicine. 2019 Jul; 45: 519–528. Published online 2019 Jul 12. doi: 10.1016/j.ebiom.2019.07.003

PMCID:: PMC6642332

Abstract Article PDF–2.2M

Select item 664201512.

Allosteric regulation of oligomerization by a B₁₂ trafficking G-protein is corrupted in methylmalonic aciduria

Markus Ruetz, Gregory C. Campanello, Liam McDevitt, Adam L. Yokom, Pramod K. Yadav, David Watkins, David S. Rosenblatt, Melanie D. Ohi, Daniel R. Southworth, Ruma Banerjee

Cell Chem Biol. Author manuscript; available in PMC 2020 Jul 18.

Published in final edited form as: Cell Chem Biol. 2019 Jul 18; 26(7): 960–969.e4. Published online 2019 May 2. doi: 10.1016/j.chembiol.2019.03.014

PMCID:: PMC6642015

Abstract Article PDF–2.0M

Select item 632803013.

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia

Irini Manoli, Justin R. Sysol, Madeline W. Epping, Lina Li, Cindy Wang, Jennifer L. Sloan, Alexandra Pass, Jack Gagné, Yiouli P. Ktena, Lingli Li, Niraj S. Trivedi, Bazoumana Ouattara, Patricia M. Zerfas, Victoria Hoffmann, Mones Abu-Asab, Maria G. Tsokos, David E. Kleiner, Caterina Garone, Kristina Cusmano-Ozog, Gregory M. Enns, Hilary J. Vernon, Hans C. Andersson, Stephanie Grunewald, Abdel G. Elkahloun, Christiane L. Girard, Jurgen Schnermann, Salvatore DiMauro, Eva Andres-Mateos, Luk H. Vandenberghe, Randy J. Chandler, Charles P. Venditti

JCI Insight. 2018 Dec 6; 3(23): e124351. Published online 2018 Dec 6. doi: 10.1172/jci.insight.124351

PMCID:: PMC6328030

Abstract Article PDF–5.4M

Select item 503405014.

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

Patrick Forny, Anke Schumann, Merima Mustedanagic, Déborah Mathis, Marie-Angela Wulf, Nadine Nägele, Claus-Dieter Langhans, Assem Zhakupova, Joerg Heeren, Ludger Scheja, Ralph Fingerhut, Heidi L. Peters, Thorsten Hornemann, Beat Thony, Stefan Kölker, Patricie Burda, D. Sean Froese, Olivier Devuyst, Matthias R. Baumgartner

J Biol Chem. 2016 Sep 23; 291(39): 20563–20573. Published online 2016 Aug 12. doi: 10.1074/jbc.M116.747717

PMCID:: PMC5034050

Abstract Article PDF–2.8M

Select item 431942515.

Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy

Randy J. Chandler, Matthew C. LaFave, Gaurav K. Varshney, Niraj S. Trivedi, Nuria Carrillo-Carrasco, Julien S. Senac, Weiwei Wu, Victoria Hoffmann, Abdel G. Elkahloun, Shawn M. Burgess, Charles P. Venditti

J Clin Invest. 2015 Feb 2; 125(2): 870–880. Published online 2015 Jan 20. doi: 10.1172/JCI79213

PMCID:: PMC4319425

Abstract Article PDF–1.9M

Select item 374687516.

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

Irini Manoli, Justin R. Sysol, Lingli Li, Pascal Houillier, Caterina Garone, Cindy Wang, Patricia M. Zerfas, Kristina Cusmano-Ozog, Sarah Young, Niraj S. Trivedi, Jun Cheng, Jennifer L. Sloan, Randy J. Chandler, Mones Abu-Asab, Maria Tsokos, Abdel G. Elkahloun, Seymour Rosen, Gregory M. Enns, Gerard T. Berry, Victoria Hoffmann, Salvatore DiMauro, Jurgen Schnermann, Charles P. Venditti

Proc Natl Acad Sci U S A. 2013 Aug 13; 110(33): 13552–13557. Published online 2013 Jul 29. doi: 10.1073/pnas.1302764110

PMCID:: PMC3746875

Abstract Article PDF–865K

Select item 372668817.

QTL Analysis of Dietary Obesity in C57BL/6byj X 129P3/J F₂ Mice: Diet- and Sex-Dependent Effects

Cailu Lin, Maria L. Theodorides, Amanda H. McDaniel, Michael G. Tordoff, Qinmin Zhang, Xia Li, Natalia Bosak, Alexander A. Bachmanov, Danielle R. Reed

PLoS One. 2013; 8(7): e68776. Published online 2013 Jul 29. doi: 10.1371/journal.pone.0068776

PMCID:: PMC3726688

Abstract Article PDF–926K

Select item 357241018.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163