PMC Links for GEO Profiles (Select 119185595) - PMC

Select item 66420151.

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 31780592.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 29922543.

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 28392244.

Long-term Rescue of a Lethal Murine Model of Methylmalonic Acidemia Using Adeno associated Viral Gene Therapy

Randy J Chandler, Charles P Venditti

Mol Ther. 2010 Jan; 18(1): 11–16. Published online 2009 Oct 27. doi: 10.1038/mt.2009.247

PMCID:: PMC2839224

Abstract Article PDF–239K

Select item 27788445.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016

PMCID:: PMC2778844

Abstract Article PDF–1.2M

Select item 27451766.

Novel Associations of CPS1, MUT, NOX4 and DPEP1 with Plasma Homocysteine in a Healthy Population: A Genome Wide Evaluation of 13,974 Participants in the Women’s Genome Health Study

Guillaumé Pare, Daniel I. Chasman, Alexander N. Parker, Robert R.Y. Zee, Anders Mälarstig, Udo Seedorf, Rory Collins, Hugh Watkins, Anders Hamsten, Joseph P. Miletich, Paul M. Ridker

Circ Cardiovasc Genet. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: Circ Cardiovasc Genet. 2009 Jan 1; 2(2): 142–150. doi: 10.1161/CIRCGENETICS.108.829804

PMCID:: PMC2745176

Abstract Article PDF–713K

Select item 21400537.

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

Abstract Article PDF–551K

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