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Items: 1 to 20 of 33

1.
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
AbstractArticlePDF–11M
2.
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
AbstractArticlePDF–778K
3.
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
AbstractArticlePDF–1.9M
4.
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
AbstractArticlePDF–1.6M
5.
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
AbstractArticlePDF–1.4M
6.
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
AbstractArticlePDF–1.5M
7.
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
AbstractArticlePDF–5.4M
8.
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
AbstractArticlePDF–2.8M
9.
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
AbstractArticlePDF–1.9M
10.
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
AbstractArticlePDF–865K
11.
Development of Transgenic Mice Containing an Introduced Stop Codon on the Human Methylmalonyl-CoA Mutase Locus
Nicole E. Buck, Harriet Dashnow, James J. Pitt, Leonie R. Wood, Heidi L. Peters
PLoS One. 2012; 7(9): e44974. Published online 2012 Sep 14. doi: 10.1371/journal.pone.0044974
PMCID:
PMC3443245
AbstractArticlePDF–518K
12.
Mouse Models for Methylmalonic Aciduria
Heidi L. Peters, James J. Pitt, Leonie R. Wood, Natasha J. Hamilton, Joseph P. Sarsero, Nicole E. Buck
PLoS One. 2012; 7(7): e40609. Published online 2012 Jul 9. doi: 10.1371/journal.pone.0040609
PMCID:
PMC3392231
AbstractArticlePDF–1.1M
13.
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
AbstractArticlePDF–2.2M
14.
Mitochondrial dysfunction in mut methylmalonic acidemia
Randy J. Chandler, Patricia M. Zerfas, Sara Shanske, Jennifer Sloan, Victoria Hoffmann, Salvatore DiMauro, Charles P. Venditti
FASEB J. 2009 Apr; 23(4): 1252–1261. doi: 10.1096/fj.08-121848
PMCID:
PMC2660647
AbstractArticle
15.
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
Randy J Chandler, Jennifer Sloan, Hong Fu, Matthew Tsai, Sally Stabler, Robert Allen, Klaus H Kaestner, Haig H Kazazian, Charles P Venditti
BMC Med Genet. 2007; 8: 64. Published online 2007 Oct 15. doi: 10.1186/1471-2350-8-64
PMCID:
PMC2140053
AbstractArticlePDF–551K
16.
Primary structure and activity of mouse methylmalonyl-CoA mutase.
M F Wilkemeyer, A M Crane, F D Ledley
Biochem J. 1990 Oct 15; 271(2): 449–455. doi: 10.1042/bj2710449
PMCID:
PMC1149575
SummaryPage BrowsePDF–1.4M
17.
Genomic structure of murine methylmalonyl-CoA mutase: evidence for genetic and epigenetic mechanisms determining enzyme activity.
M F Wilkemeyer, E R Andrews, F D Ledley
Biochem J. 1993 Dec 15; 296(Pt 3): 663–670. doi: 10.1042/bj2960663
PMCID:
PMC1137748
SummaryPage BrowsePDF–1.8M
18.
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
AbstractArticlePDF–2.6M
19.
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
AbstractArticlePDF–826K
20.
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
AbstractArticlePDF–2.0M

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