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Select item 86820751.

Naturally occurring cobalamin (B₁₂) analogs can function as cofactors for human methylmalonyl-CoA mutase

Olga M. Sokolovskaya, Tanja Plessl, Henry Bailey, Sabrina Mackinnon, Matthias R. Baumgartner, Wyatt W. Yue, D. Sean Froese, Michiko E. Taga

Biochimie. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Biochimie. 2021 Apr; 183: 35–43. Published online 2020 Jul 10. doi: 10.1016/j.biochi.2020.06.014

PMCID:: PMC8682075

Abstract Article PDF–1.4M

Select item 86062122.

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

Yue Yu, Ruixue Shuai, Lili Liang, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han

Mol Genet Genomic Med. 2021 Nov; 9(11): e1822. Published online 2021 Oct 20. doi: 10.1002/mgg3.1822

PMCID:: PMC8606212

Abstract Article PDF–1.0M

Select item 77920443.

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Yongguo Yu, Xuefan Gu, Lianshu Han

Orphanet J Rare Dis. 2021; 16: 22. Published online 2021 Jan 7. doi: 10.1186/s13023-020-01632-0

PMCID:: PMC7792044

Abstract Article PDF–859K

Select item 74039944.

Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress

Michele Costanzo, Marianna Caterino, Armando Cevenini, Vincent Jung, Cerina Chhuon, Joanna Lipecka, Roberta Fedele, Ida Chiara Guerrera, Margherita Ruoppolo

Int J Mol Sci. 2020 Jul; 21(14): 4998. Published online 2020 Jul 15. doi: 10.3390/ijms21144998

PMCID:: PMC7403994

Abstract Article PDF–6.0M

Select item 69980795.

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene

Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar, Mohammad Ali Faghihi

BMC Med Genet. 2020; 21: 22. Published online 2020 Feb 3. doi: 10.1186/s12881-020-0959-8

PMCID:: PMC6998079

Abstract Article PDF–809K

Select item 58243936.

TAT‐MTS‐MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM‐deficient cells

Tal Erlich‐Hadad, Rita Hadad, Anat Feldman, Hagar Greif, Michal Lictenstein, Haya Lorberboum‐Galski

J Cell Mol Med. 2018 Mar; 22(3): 1601–1613. Published online 2017 Dec 19. doi: 10.1111/jcmm.13435

PMCID:: PMC5824393

Abstract Article PDF–574K

Select item 44410047.

Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency

Patrick Forny, D. Sean Froese, Terttu Suormala, Wyatt W. Yue, Matthias R. Baumgartner

Hum Mutat. 2014 Dec; 35(12): 1449–1458. Published online 2014 Nov 24. doi: 10.1002/humu.22633

PMCID:: PMC4441004

Abstract Article PDF–943K

Select item 40797428.

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia

Wei Gu, Winston Koh, Yair J. Blumenfeld, Yasser Y. El-Sayed, Louanne Hudgins, Susan R. Hintz, Stephen R. Quake

Genet Med. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Genet Med. 2014 Jul; 16(7): 564–567. Published online 2014 Jan 9. doi: 10.1038/gim.2013.194

PMCID:: PMC4079742

Abstract Article PDF–405K

Select item 37523809.

A Switch III Motif Relays Signaling between a B₁₂ Enzyme and its G-protein Chaperone

Michael Lofgren, Dominique Padovani, Markos Koutmos, Ruma Banerjee

Nat Chem Biol. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Nat Chem Biol. 2013 Sep; 9(9): 535–539. Published online 2013 Jul 21. doi: 10.1038/nchembio.1298

PMCID:: PMC3752380

Abstract Article PDF–1.1M

Select item 191823510.

Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.

A. M. Crane, F. D. Ledley

Am J Hum Genet. 1994 Jul; 55(1): 42–50.

PMCID:: PMC1918235

Summary Page Browse PDF–1.8M

Select item 168368711.

Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

R Jansen, F D Ledley

Am J Hum Genet. 1990 Nov; 47(5): 808–814.

PMCID:: PMC1683687

Summary Page Browse PDF–1.2M

Select item 44286412.

Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.

A M Crane, R Jansen, E R Andrews, F D Ledley

J Clin Invest. 1992 Feb; 89(2): 385–391. doi: 10.1172/JCI115597

PMCID:: PMC442864

Summary Page Browse PDF–1.5M

Select item 30444213.

Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.

W A Fenton, A M Hack, J P Kraus, L E Rosenberg

Proc Natl Acad Sci U S A. 1987 Mar; 84(5): 1421–1424. doi: 10.1073/pnas.84.5.1421

PMCID:: PMC304442

Summary Page Browse PDF–1023K

Select item 29502614.

Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

M L Raff, A M Crane, R Jansen, F D Ledley, D S Rosenblatt

J Clin Invest. 1991 Jan; 87(1): 203–207. doi: 10.1172/JCI114972

PMCID:: PMC295026

Summary Page Browse PDF–1012K

Select item 29424915.

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

A A Qureshi, A M Crane, N V Matiaszuk, I Rezvani, F D Ledley, D S Rosenblatt

J Clin Invest. 1994 Apr; 93(4): 1812–1819. doi: 10.1172/JCI117166

PMCID:: PMC294249

Summary Page Browse PDF–1.5M

Select item 28024316.

Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.

F D Ledley, M Lumetta, P N Nguyen, J F Kolhouse, R H Allen

Proc Natl Acad Sci U S A. 1988 May; 85(10): 3518–3521. doi: 10.1073/pnas.85.10.3518

PMCID:: PMC280243

Summary Page Browse PDF–938K

Select item 910925317.

A Novel Small Molecule Approach for the Treatment of Propionic and Methylmalonic Acidemias.

Allison J Armstrong, Maria Sol Collado, Brad R Henke, Matthew W Olson, Steve A Hoang, Christin A Hamilton, Taylor D Pourtaheri, Kimberly A Chapman, Marshall M Summar, Brian A Johns, Brian R Wamhoff, John E Reardon, Robert A Figler

Mol Genet Metab. Author manuscript; available in PMC 2022 May 16.

Published in final edited form as: Mol Genet Metab. 2021 May; 133(1): 71–82. Published online 2021 Mar 10. doi: 10.1016/j.ymgme.2021.03.001

PMCID:: PMC9109253

Abstract Article PDF–1.7M

Select item 664233218.

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