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Select item 91570791.

Pentatricopeptide repeat protein CNS1 regulates maize mitochondrial complex III assembly and seed development

Shuai Ma, Wenzhu Yang, Xiaoqing Liu, Suzhen Li, Ye Li, Jiameng Zhu, Chunyi Zhang, Xiaoduo Lu, Xiaojin Zhou, Rumei Chen

Plant Physiol. 2022 Jun; 189(2): 611–627. Published online 2022 Feb 26. doi: 10.1093/plphys/kiac086

PMCID:: PMC9157079

Article PDF–1.9M

Select item 83769672.

Adaptive optimization of the OXPHOS assembly line partially compensates lrpprc-dependent mitochondrial translation defects in mice

Alexanne Cuillerier, Matthieu Ruiz, Caroline Daneault, Anik Forest, Jenna Rossi, Goutham Vasam, George Cairns, Virgilio Cadete, The LSFC Consortium, Christine Des Rosiers, Yan Burelle

Commun Biol. 2021; 4: 989. Published online 2021 Aug 19. doi: 10.1038/s42003-021-02492-5

PMCID:: PMC8376967

Article PDF–2.5M

Select item 75774673.

Humoral responses to the measles, mumps and rubella vaccine are impaired in Leigh Syndrome French Canadian patients

Adrien Fois, Anne-Marie Boucher-Lafleur, Julie Thompson Legault, Christian Renaud, Charles Morin, Christine Des Rosiers, Lise Coderre, Catherine Laprise, Sylvie Lesage, LSFC Consortium

PLoS One. 2020; 15(10): e0239860. Published online 2020 Oct 21. doi: 10.1371/journal.pone.0239860

PMCID:: PMC7577467

Article PDF–771K

Select item 75176464.

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello

Ital J Pediatr. 2020; 46: 140. Published online 2020 Sep 24. doi: 10.1186/s13052-020-00903-7

PMCID:: PMC7517646

Article PDF–2.2M

Select item 74696835.

SQSTM1/p62 and PPARGC1A/PGC-1alpha at the interface of autophagy and vascular senescence

Gloria Salazar, Abigail Cullen, Jingwen Huang, Yitong Zhao, Alexa Serino, Lula Hilenski, Nikolay Patrushev, Farshad Forouzandeh, Hyun Seok Hwang

Autophagy. 2020; 16(6): 1092–1110. Published online 2019 Aug 28. doi: 10.1080/15548627.2019.1659612

PMCID:: PMC7469683

Article PDF–10M

Select item 66897546.

mTORC1 is required for expression of LRPPRC and cytochrome-c oxidase but not HIF-1α in Leigh syndrome French Canadian type patient fibroblasts

Yvette Mukaneza, Aaron Cohen, Marie-Ève Rivard, Jessica Tardif, Sonia Deschênes, Matthieu Ruiz, LSFC Consortium, Catherine Laprise, Christine Des Rosiers, Lise Coderre

Am J Physiol Cell Physiol. 2019 Jul 1; 317(1): C58–C67. Published online 2019 Apr 17. doi: 10.1152/ajpcell.00160.2017

PMCID:: PMC6689754

Article

Select item 66631957.

Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome

Shrinal Kotecha, Venkatesh Kairamkonda

BMJ Case Rep. 2019; 12(7): e229668. Published online 2019 Jul 15. doi: 10.1136/bcr-2019-229668

PMCID:: PMC6663195

Article PDF–149K

Select item 65056848.

Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7

Karthik Mohanraj, Michal Wasilewski, Cristiane Benincá, Dominik Cysewski, Jaroslaw Poznanski, Paulina Sakowska, Zaneta Bugajska, Markus Deckers, Sven Dennerlein, Erika Fernandez‐Vizarra, Peter Rehling, Michal Dadlez, Massimo Zeviani, Agnieszka Chacinska

EMBO Mol Med. 2019 May; 11(5): e9561. Published online 2019 Mar 18. doi: 10.15252/emmm.201809561

PMCID:: PMC6505684

Article PDF–2.3M

Select item 62203119.

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez‐Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia MA Chrzanowska‐Lightowlers, Robert N Lightowlers, Robert W Taylor

EMBO Mol Med. 2018 Nov; 10(11): e9060. Published online 2018 Sep 10. doi: 10.15252/emmm.201809060

PMCID:: PMC6220311

Article PDF–1.2M

Select item 464451110.

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

Julie Thompson Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, The LSFC Consortium, Luc Vachon, Charles Morin, Catherine Laprise, John D. Rioux, Vamsi K. Mootha, Christine Des Rosiers

Cell Rep. Author manuscript; available in PMC 2015 Nov 14.

Published in final edited form as: Cell Rep. 2015 Nov 3; 13(5): 981–989. Published online 2015 Oct 22. doi: 10.1016/j.celrep.2015.09.054

PMCID:: PMC4644511

Article PDF–1.3M

Select item 438356011.

Mitochondrial Vulnerability and Increased Susceptibility to Nutrient-Induced Cytotoxicity in Fibroblasts from Leigh Syndrome French Canadian Patients

Yan Burelle, Chantal Bemeur, Marie-Eve Rivard, Julie Thompson Legault, Gabrielle Boucher, LSFC Consortium, Charles Morin, Lise Coderre, Christine Des Rosiers

PLoS One. 2015; 10(4): e0120767. Published online 2015 Apr 2. doi: 10.1371/journal.pone.0120767

PMCID:: PMC4383560

Article PDF–1.3M

Select item 429791312.

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, Chaya Miller, Avraham Shaag, Orly Elpeleg, Simon Edvardson, Ann Saada

Eur J Hum Genet. 2015 Feb; 23(2): 159–164. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.85

PMCID:: PMC4297913

Article PDF–914K

Select item 427507413.

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome

Florin Sasarman, Tamiko Nishimura, Hana Antonicka, Woranontee Weraarpachai, Eric A. Shoubridge, Bruce Allen, Yan Burelle, Guy Charron, Lise Coderre, Christine DesRosiers, Catherine Laprise, Charles Morin, John Rioux, Eric A. Shoubridge

Hum Mol Genet. 2015 Jan 15; 24(2): 480–491. Published online 2014 Sep 11. doi: 10.1093/hmg/ddu468

PMCID:: PMC4275074

Article PDF–834K

Select item 326155714.

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

Benedetta Ruzzenente, Metodi D Metodiev, Anna Wredenberg, Ana Bratic, Chan Bae Park, Yolanda Cámara, Dusanka Milenkovic, Volker Zickermann, Rolf Wibom, Kjell Hultenby, Hediye Erdjument-Bromage, Paul Tempst, Ulrich Brandt, James B Stewart, Claes M Gustafsson, Nils-Göran Larsson

EMBO J. 2012 Jan 18; 31(2): 443–456. Published online 2011 Nov 1. doi: 10.1038/emboj.2011.392

PMCID:: PMC3261557

Article PDF–1.1M

Select item 285953715.

Mitochondrial and Nuclear Genomic Responses to Loss of LRPPRC Expression

Vishal M. Gohil, Roland Nilsson, Casey A. Belcher-Timme, Biao Luo, David E. Root, Vamsi K. Mootha

J Biol Chem. 2010 Apr 30; 285(18): 13742–13747. Published online 2010 Mar 10. doi: 10.1074/jbc.M109.098400

Correction in:: J Biol Chem. 2020 Apr 17; 295(16): 5533.

PMCID:: PMC2859537

Article PDF–1.0M

Select item 285409016.

LRPPRC and SLIRP Interact in a Ribonucleoprotein Complex That Regulates Posttranscriptional Gene Expression in Mitochondria

Florin Sasarman, Catherine Brunel-Guitton, Hana Antonicka, Timothy Wai, Eric A. Shoubridge, LSFC Consortium

Mol Biol Cell. 2010 Apr 15; 21(8): 1315–1323. doi: 10.1091/mbc.E10-01-0047

PMCID:: PMC2854090

Article PDF–1.6M

Select item 162002217.

Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1α/LRP130 complex

Marcus P. Cooper, Lishu Qu, Lindsay M. Rohas, Jiandie Lin, Wenli Yang, Hediye Erdjument-Bromage, Paul Tempst, Bruce M. Spiegelman

Genes Dev. 2006 Nov 1; 20(21): 2996–3009. doi: 10.1101/gad.1483906

PMCID:: PMC1620022

Article PDF–1.0M

Select item 123527318.

A Genomewide Linkage-Disequilibrium Scan Localizes the Saguenay–Lac-Saint-Jean Cytochrome Oxidase Deficiency to 2p16

Nana Lee, Mark J. Daly, Terrye Delmonte, Eric S. Lander, Fenghao Xu, Thomas J. Hudson, Grant A. Mitchell, Charles C. Morin, Brian H. Robinson, John D. Rioux

Am J Hum Genet. 2001 Feb; 68(2): 397–409. Published online 2001 Jan 10. doi: 10.1086/318197

PMCID:: PMC1235273

Article PDF–783K

Select item 113394619.

The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA

Fenghao Xu, Charles Morin, Grant Mitchell, Cameron Ackerley, Brian H. Robinson

Biochem J. 2004 Aug 15; 382(Pt 1): 331–336. Prepublished online 2004 May 13. Published online 2004 Aug 10. doi: 10.1042/BJ20040469

PMCID:: PMC1133946

Article PDF–484K

Select item 14104320.

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

Vamsi K. Mootha, Pierre Lepage, Kathleen Miller, Jakob Bunkenborg, Michael Reich, Majbrit Hjerrild, Terrye Delmonte, Amelie Villeneuve, Robert Sladek, Fenghao Xu, Grant A. Mitchell, Charles Morin, Matthias Mann, Thomas J. Hudson, Brian Robinson, John D. Rioux, Eric S. Lander

Proc Natl Acad Sci U S A. 2003 Jan 21; 100(2): 605–610. Published online 2003 Jan 14. doi: 10.1073/pnas.242716699

PMCID:: PMC141043

Article PDF–423K

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