PMC Links for Gene (Select 291709) - PMC

Select item 60749411.

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice

Zhuo Li, Yanyan Peng, Robert B. Hufnagel, Yueh-Chiang Hu, Chuntao Zhao, Luis F. Queme, Zaza Khuchua, Ashley M. Driver, Fei Dong, Q. Richard Lu, Diana M. Lindquist, Michael P. Jankowski, Rolf W. Stottmann, Winston W.Y. Kao, Taosheng Huang

Hum Mol Genet. 2017 Oct 1; 26(19): 3776–3791. Published online 2017 Jul 6. doi: 10.1093/hmg/ddx262

PMCID:: PMC6074941

Abstract Article PDF–2.0M

Select item 58408782.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik-Schöneborn, Kate Pope, Katherine B. Howell, Catriona A. McLean, Andrew J. Kornberg, Jörg Joseph, Paul J. Lockhart, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Carla M. Koehler, Joanna C. Jen

Brain. 2016 Nov; 139(11): 2877–2890. Published online 2016 Aug 20. doi: 10.1093/brain/aww212

PMCID:: PMC5840878

Abstract Article PDF–1.2M

Select item 53803143.

Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health

Amandine Duchesne, Anne Vaiman, Johan Castille, Christian Beauvallet, Pauline Gaignard, Sandrine Floriot, Sabrina Rodriguez, Marthe Vilotte, Laurent Boulanger, Bruno Passet, Olivier Albaric, François Guillaume, Abdelhak Boukadiri, Laurence Richard, Maud Bertaud, Edouard Timsit, Raphaël Guatteo, Florence Jaffrézic, Pierre Calvel, Louise Helary, Rachid Mahla, Diane Esquerré, Christine Péchoux, Sophie Liuu, Jean-Michel Vallat, Didier Boichard, Abdelhamid Slama, Jean-Luc Vilotte

PLoS Genet. 2017 Apr; 13(4): e1006597. Published online 2017 Apr 4. doi: 10.1371/journal.pgen.1006597

PMCID:: PMC5380314

Abstract Article PDF–2.6M

Select item 45207374.

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael A. Gonzalez, Ion J. Campeanu, Laurie B. Griffin, Saskia Groenewald, Alleene V. Strickland, Feifei Tao, Fiorella Speziani, Lisa Abreu, Rebecca Schüle, Leonardo Caporali, Chiara La Morgia, Alessandra Maresca, Rocco Liguori, Raffaele Lodi, Zubair M. Ahmed, Kristen L. Sund, Xinjian Wang, Laura A. Krueger, Yanyan Peng, Carlos E. Prada, Cynthia A. Prows, Kevin Bove, Elizabeth K. Schorry, Anthony Antonellis, Holly H. Zimmerman, Omar A. Abdul-Rahman, Yaping Yang, Susan M. Downes, Jeffery Prince, Flavia Fontanesi, Antonio Barrientos, Andrea H. Nemeth, Valerio Carelli, Taosheng Huang, Stephan Zuchner, Julia E. Dallman

Nat Genet. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Nat Genet. 2015 Aug; 47(8): 926–932. Published online 2015 Jul 13. doi: 10.1038/ng.3354

PMCID:: PMC4520737

Abstract Article PDF–2.0M

Select item 53803105.

Novel insights into SLC25A46-related pathologies in a genetic mouse model

Maria Eirini Terzenidou, Aikaterini Segklia, Toshimi Kano, Florentia Papastefanaki, Alexandros Karakostas, Maria Charalambous, Fotis Ioakeimidis, Maria Papadaki, Ismini Kloukina, Margarita Chrysanthou-Piterou, Martina Samiotaki, George Panayotou, Rebecca Matsas, Eleni Douni

PLoS Genet. 2017 Apr; 13(4): e1006656. Published online 2017 Apr 4. doi: 10.1371/journal.pgen.1006656

PMCID:: PMC5380310

Abstract Article PDF–4.6M

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

Select item 31780598.

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

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