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Items: 16

Select item 1377551.

Identification of the gene responsible for the cblA complementation group of vitamin B₁₂-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

C. Melissa Dobson, Timothy Wai, Daniel Leclerc, Aaron Wilson, Xuchu Wu, Carole Doré, Thomas Hudson, David S. Rosenblatt, Roy A. Gravel

Proc Natl Acad Sci U S A. 2002 Nov 26; 99(24): 15554–15559. Published online 2002 Nov 15. doi: 10.1073/pnas.242614799

PMCID:: PMC137755

Abstract Article PDF–450K

Select item 54157232.

Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia

Fatemeh Keyfi, Mohammad Reza Abbaszadegan, Arndt Rolfs, Slobodanka Orolicki, Morteza Moghaddassian, Abdolreza Varasteh

Cell Mol Biol Lett. 2016; 21: 4. Published online 2016 Jul 28. doi: 10.1186/s11658-016-0005-1

PMCID:: PMC5415723

Abstract Article PDF–2.5M

Select item 103309483.

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia (MMA)

Irini Manoli, Abigael Gebremariam, Samantha McCoy, Alexandra R. Pass, Jack Gagné, Camryn Hall, Susan Ferry, Carol Van Ryzin, Jennifer L. Sloan, Elisa Sacchetti, Giulio Catesini, Cristiano Rizzo, Diego Martinelli, Marco Spada, Carlo Dionisi-Vici, Charles P. Venditti

J Inherit Metab Dis. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: J Inherit Metab Dis. 2023 Jul; 46(4): 554–572. Published online 2023 Jun 6. doi: 10.1002/jimd.12636

PMCID:: PMC10330948

Abstract Article PDF–1.6M

Select item 99745104.

Structure of metallochaperone in complex with the cobalamin-binding domain of its target mutase provides insight into cofactor delivery

Francesca A. Vaccaro, David A. Born, Catherine L. Drennan

Proc Natl Acad Sci U S A. 2023 Feb 21; 120(8): e2214085120. Published online 2023 Feb 14. doi: 10.1073/pnas.2214085120

PMCID:: PMC9974510

Abstract Article PDF–3.7M

Select item 82834785.

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

Berna ŞEKER YILMAZ, Deniz KÖR, Fatma Derya BULUT, Sebile KILAVUZ, Serdar CEYLANER, Halise Neslihan ÖNENLİ MUNGAN

Turk J Med Sci. 2021; 51(3): 1220–1228. Published online 2021 Jun 28. doi: 10.3906/sag-2001-72

PMCID:: PMC8283478

Abstract Article PDF–219K

Select item 76697176.

Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type

Tiffany Chern, Annita Achilleos, Xuefei Tong, Chih-Wei Hsu, Leeyean Wong, Ross A. Poché

Dev Biol. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Dev Biol. 2020 Dec 1; 468(1-2): 1–13. Published online 2020 Sep 14. doi: 10.1016/j.ydbio.2020.09.005

PMCID:: PMC7669717

Abstract Article PDF–2.6M

Select item 60422737.

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu

BMC Med Genet. 2018; 19: 114. Published online 2018 Jul 11. doi: 10.1186/s12881-018-0635-4

PMCID:: PMC6042273

Abstract Article PDF–2.2M

Select item 44410048.

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 30676219.

Genetic Analysis of the Protein Shell of the Microcompartments Involved in Coenzyme B₁₂-Dependent 1,2-Propanediol Degradation by Salmonella

Shouqiang Cheng, Sharmistha Sinha, Chenguang Fan, Yu Liu, Thomas A. Bobik

J Bacteriol. 2011 Mar; 193(6): 1385–1392. Published online 2011 Jan 14. doi: 10.1128/JB.01473-10

PMCID:: PMC3067621

Abstract Article PDF–900K

Select item 299225410.

Structures of the Human GTPase MMAA and Vitamin B₁₂-dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

D. Sean Froese, Grazyna Kochan, João R. C. Muniz, Xuchu Wu, Carina Gileadi, Emelie Ugochukwu, Ewelina Krysztofinska, Roy A. Gravel, Udo Oppermann, Wyatt W. Yue

J Biol Chem. 2010 Dec 3; 285(49): 38204–38213. Published online 2010 Sep 28. doi: 10.1074/jbc.M110.177717

PMCID:: PMC2992254

Abstract Article PDF–2.5M

Select item 293286711.

Functional and Structural Analysis of Five Mutations Identified in Methylmalonic Aciduria cbIB Type

Ana Jorge-Finnigan, Cristina Aguado, Rocio Sánchez-Alcudia, David Abia, Eva Richard, Begoña Merinero, Alejandra Gámez, Ruma Banerjee, Lourdes R. Desviat, Magdalena Ugarte, Belen Pérez

Hum Mutat. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Hum Mutat. 2010 Sep; 31(9): 1033–1042. doi: 10.1002/humu.21307