PMC Links for Nucleotide (Select 1676440432) - PMC

Select item 55407511.

SLC25A46 mutations associated with Autosomal Recessive Cerebellar Ataxia in North African families

Monia B. Hammer, Jinhui Ding, Fanny Mochel, Ghada Eleuch-Fayache, Perrine Charles, Marie Coutelier, J. Raphael Gibbs, Sampath K. Arepalli, Sean B. Chong, Dena G. Hernandez, Elisa Majounie, Steven Clipman, Yosr Bouhlal, Houda Nehdi, Alexis Brice, Faycal Hentati, Giovanni Stevanin, Rim Amouri, Alexandra Durr, Andrew B. Singleton

Neurodegener Dis. Author manuscript; available in PMC 2018 May 31.

Published in final edited form as: Neurodegener Dis. 2017; 17(4-5): 208–212. Published online 2017 May 31. doi: 10.1159/000464445

PMCID:: PMC5540751

Abstract Article PDF–542K

Select item 53803142.

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 53803103.

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 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

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