PMC Links for GEO Profiles (Select 75125982) - PMC

Select item 56736231.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F. Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M. Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M. Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A. Bacino, Penelope E. Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak

Am J Hum Genet. 2017 Nov 2; 101(5): 833–843. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.016

PMCID:: PMC5673623

Abstract Article PDF–2.9M

Select item 39460542.

A self-sequestered calmodulin-like Ca²⁺ sensor of mitochondrial SCaMC carrier and its implication to Ca²⁺-dependent ATP-Mg/Pi transport

Qin Yang, Sven Brüschweiler, James J. Chou

Structure. Author manuscript; available in PMC 2015 Feb 4.

Published in final edited form as: Structure. 2014 Feb 4; 22(2): 209–217. Published online 2013 Dec 12. doi: 10.1016/j.str.2013.10.018

PMCID:: PMC3946054

Abstract Article PDF–3.0M

Select item 35978183.

Glucagon Regulation of Oxidative Phosphorylation Requires an Increase in Matrix Adenine Nucleotide Content through Ca²⁺ Activation of the Mitochondrial ATP-Mg/P_i Carrier SCaMC-3

Ignacio Amigo, Javier Traba, M. Mar González-Barroso, Carlos B. Rueda, Margarita Fernández, Eduardo Rial, Aránzazu Sánchez, Jorgina Satrústegui, Araceli del Arco

J Biol Chem. 2013 Mar 15; 288(11): 7791–7802. Published online 2013 Jan 23. doi: 10.1074/jbc.M112.409144

PMCID:: PMC3597818

Abstract Article PDF–1.7M

Select item 33079814.

SCaMC-1 promotes cancer cell survival by desensitizing mitochondrial permeability transition via ATP/ADP-mediated matrix Ca²⁺ buffering

J Traba, A del Arco, M R Duchen, G Szabadkai, J Satrústegui

Cell Death Differ. 2012 Apr; 19(4): 650–660. Published online 2011 Oct 21. doi: 10.1038/cdd.2011.139

PMCID:: PMC3307981

Abstract Article PDF–912K

Select item 31780595.

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 27788446.

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 1392417.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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