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Select item 75176461.

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 66897542.

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 56809343.

Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French–Canadian Type Outside of Québec

Velda Xinying Han, Teresa S. Tan, Furene S. Wang, Stacey Kiat-Hong Tay

Child Neurol Open. 2017 Jan-Dec; 4: 2329048X17737638. Published online 2017 Nov 8. doi: 10.1177/2329048X17737638

PMCID:: PMC5680934

Article PDF–121K

Select item 88569094.

Expression signature of the Leigh syndrome French-Canadian type

Mbarka Bchetnia, Jessica Tardif, Charles Morin, Catherine Laprise

Mol Genet Metab Rep. 2022 Mar; 30: 100847. Published online 2022 Feb 5. doi: 10.1016/j.ymgmr.2022.100847

PMCID:: PMC8856909

Article PDF–2.1M

Select item 28595375.

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 1410436.

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

Select item 75774677.

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 43835608.

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 42750749.

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 326155710.

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 285409011.

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 162002212.

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 123527313.

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 113394614.

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 1078639715.

Impact response of lightweight steel foam concrete composite slabs: Experimental, numerical and analytical studies

Linghui Meng, Lei Wang, Jinbo Chen, Qiang Xu, Bowen Liu, Minghao Yang, Shuwang Yang, Zhenhui Zhang

PLoS One. 2024; 19(1): e0296303. Published online 2024 Jan 12. doi: 10.1371/journal.pone.0296303

PMCID:: PMC10786397

Article PDF–6.5M

Select item 1077227916.

Anterior lumbar interbody fusion versus transforaminal lumbar interbody fusion for correction of lumbosacral fractional curves in adult (thoraco)lumbar scoliosis: A systematic review

Daniel D. Cummins, Aaron J. Clark, Munish C. Gupta, Alekos A. Theologis

N Am Spine Soc J. 2024 Mar; 17: 100299. Published online 2023 Nov 30. doi: 10.1016/j.xnsj.2023.100299

PMCID:: PMC10772279

Article PDF–792K

Select item 985903717.

Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality

Ankit Sabharwal, Mark D Wishman, Roberto Lopez Cervera, MaKayla R Serres, Jennifer L Anderson, Shannon R Holmberg, Bibekananda Kar, Anthony J Treichel, Noriko Ichino, Weibin Liu, Jingchun Yang, Yonghe Ding, Yun Deng, Jean M Lacey, William J Laxen, Perry R Loken, Devin Oglesbee, Steven A Farber, Karl J Clark, Xiaolei Xu, Stephen C Ekker

eLife. 2022; 11: e65488. Published online 2022 Nov 21. doi: 10.7554/eLife.65488