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Items: 1 to 20 of 22

1.
FBXL4 deficiency increases mitochondrial removal by autophagy
David Alsina, Oleksandr Lytovchenko, Aleksandra Schab, Ilian Atanassov, Florian A Schober, Min Jiang, Camilla Koolmeister, Anna Wedell, Robert W Taylor, Anna Wredenberg, Nils‐Göran Larsson
EMBO Mol Med. 2020 Jul 7; 12(7): e11659. Published online 2020 Jun 11. doi: 10.15252/emmm.201911659
PMCID:
PMC7338799
AbstractArticlePDF–1.2M
2.
Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13
Nicolas Nardi, François Proulx, Catherine Brunel-Guiton, Luc L. Oligny, Nelson Piché, Grant A. Mitchell, Jean Sébastien Joyal
J Pediatr Intensive Care. 2020 Mar; 9(1): 54–59. Published online 2019 Oct 10. doi: 10.1055/s-0039-1697620
PMCID:
PMC6978174
AbstractArticlePDF–319K
3.
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review
Rami A. Ballout, Chadi Al Alam, Penelope E. Bonnen, Martina Huemer, Ayman W. El-Hattab, Rolla Shbarou
Front Genet. 2019; 10: 39. Published online 2019 Feb 5. doi: 10.3389/fgene.2019.00039
PMCID:
PMC6370620
AbstractArticlePDF–332K
4.
FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors
Giang Thanh Nguyen‐Dien, Keri‐Lyn Kozul, Yi Cui, Brendan Townsend, Prajakta Gosavi Kulkarni, Soo Siang Ooi, Antonio Marzio, Nissa Carrodus, Steven Zuryn, Michele Pagano, Robert G Parton, Michael Lazarou, S Sean Millard, Robert W Taylor, Brett M Collins, Mathew JK Jones, Julia K Pagan
EMBO J. 2023 Jul; 42(13): e112767. Published online 2023 May 10. doi: 10.15252/embj.2022112767
PMCID:
PMC10308361
AbstractArticlePDF–2.6M
5.
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
Martina Huemer, Daniela Karall, Anna Schossig, Jose E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi-Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles M. Lourenco, Sabine Scholl-Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland
J Inherit Metab Dis. Author manuscript; available in PMC 2016 Apr 22.
Published in final edited form as: J Inherit Metab Dis. 2015 Sep; 38(5): 905–914. Published online 2015 Apr 14. doi: 10.1007/s10545-015-9836-6
PMCID:
PMC4841446
AbstractArticlePDF–481K
6.
The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13
Maha Alotaibi, Amal Alqasmi, Faisal Albassam, Turki Alkahtani, Muath Alqahtany, Mohammed Alkhaldi
Glob Med Genet. 2023 Dec; 10(4): 278–281. Published online 2023 Oct 10. doi: 10.1055/s-0043-1775979
PMCID:
PMC10564565
AbstractArticlePDF–804K
7.
A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant
Ummuhan Oncul, Engin Kose, Fatma Tuba Eminoglu
Mol Syndromol. 2021 Aug; 12(5): 294–299. Published online 2021 Jul 19. doi: 10.1159/000515928
PMCID:
PMC8436661
AbstractArticlePDF–546K
8.
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome
Sonia Emperador, Nuria Garrido-Pérez, Javier Amezcua-Gil, Paula Gaudó, Julio Alberto Andrés-Sanz, Delia Yubero, Ana Fernández-Marmiesse, Maria M. O’Callaghan, Juan D. Ortigoza-Escobar, Marti Iriondo, Eduardo Ruiz-Pesini, Angels García-Cazorla, Mercedes Gil-Campos, Rafael Artuch, Julio Montoya, María Pilar Bayona-Bafaluy
Front Genet. 2019; 10: 1300. Published online 2020 Jan 8. doi: 10.3389/fgene.2019.01300
PMCID:
PMC6960396
AbstractArticlePDF–684K
9.
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion
Ghadi Antoun, Skye McBride, Jason R. Vanstone, Turaya Naas, Jean Michaud, Stephanie Redpath, Hugh J. McMillan, Jason Brophy, Hussein Daoud, Pranesh Chakraborty, David Dyment, Martin Holcik, Mary-Ellen Harper, Matthew A. Lines
JIMD Rep. 2016; 27: 1–9. Published online 2015 Sep 25. doi: 10.1007/8904_2015_491
PMCID:
PMC5580732
AbstractArticlePDF–623K
10.
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles-Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Jean-Paul Bonnefont, Nathalie Boddaert, Agnès Rötig, Metodi D. Metodiev, Benedetta Ruzzenente
Eur J Hum Genet. 2021 Mar; 29(3): 533–538. Published online 2020 Nov 9. doi: 10.1038/s41431-020-00757-x
PMCID:
PMC7940479
AbstractArticlePDF–954K
11.
A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Mol Genet Genomic Med. 2020 Oct; 8(10): e1427. Published online 2020 Aug 4. doi: 10.1002/mgg3.1427
PMCID:
PMC7549589
AbstractArticlePDF–1.0M
12.
Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report
Adrián González-Quintana, Inés García-Consuegra, Amaya Belanger-Quintana, Pablo Serrano-Lorenzo, Alejandro Lucia, Alberto Blázquez, Jorge Docampo, Cristina Ugalde, María Morán, Joaquín Arenas, Miguel A. Martín
Genes (Basel) 2020 Aug; 11(8): 855. Published online 2020 Jul 26. doi: 10.3390/genes11080855
PMCID:
PMC7465247
AbstractArticlePDF–1.7M
13.
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A
Valentina Marchesin, Albert Pérez-Martí, Gwenn Le Meur, Roman Pichler, Kelli Grand, Enriko D. Klootwijk, Anne Kesselheim, Robert Kleta, Soeren Lienkamp, Matias Simons
Cell Rep. 2019 Dec 24; 29(13): 4407–4421.e5. Published online 2019 Dec 24. doi: 10.1016/j.celrep.2019.11.066
PMCID:
PMC6941224
AbstractArticle
14.
SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype
C. Quadalti, D. Brunetti, I. Lagutina, R. Duchi, A. Perota, G. Lazzari, R. Cerutti, I. Di Meo, M. Johnson, E. Bottani, P. Crociara, C. Corona, S. Grifoni, V. Tiranti, E. Fernandez-Vizarra, A.J. Robinson, C. Viscomi, C. Casalone, M. Zeviani, C. Galli
Biochim Biophys Acta. 2018 Jun; 1864(6Part A): 2131–2142. doi: 10.1016/j.bbadis.2018.03.021
PMCID:
PMC6018622
AbstractArticle
15.
Anti-replicative recombinant 5S rRNA molecules can modulate the mtDNA heteroplasmy in a glucose-dependent manner
Romuald Loutre, Anne-Marie Heckel, Damien Jeandard, Ivan Tarassov, Nina Entelis
PLoS One. 2018; 13(6): e0199258. Published online 2018 Jun 18. doi: 10.1371/journal.pone.0199258
PMCID:
PMC6005506
AbstractArticlePDF–8.0M
16.
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Caterina Garone, Aaron R D’Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk
Hum Mol Genet. 2017 Nov 1; 26(21): 4257–4266. Published online 2017 Aug 25. doi: 10.1093/hmg/ddx314
PMCID:
PMC5886288
AbstractArticlePDF–1.0M
17.
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff
eLife. 2016; 5: e17163. Published online 2016 Sep 13. doi: 10.7554/eLife.17163
PMCID:
PMC5021520
AbstractArticlePDF–2.7M
18.
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
Daria Diodato, Giorgio Tasca, Daniela Verrigni, Adele D'Amico, Teresa Rizza, Giulia Tozzi, Diego Martinelli, Margherita Verardo, Federica Invernizzi, Alessia Nasca, Emanuele Bellacchio, Daniele Ghezzi, Fiorella Piemonte, Carlo Dionisi-Vici, Rosalba Carrozzo, Enrico Bertini
Eur J Hum Genet. 2016 Mar; 24(3): 463–466. Published online 2015 Jul 15. doi: 10.1038/ejhg.2015.141
PMCID:
PMC4755377
AbstractArticlePDF–1.1M
19.
Leigh Syndrome in Drosophila melanogaster: MORPHOLOGICAL AND BIOCHEMICAL CHARACTERIZATION OF Surf1 POST-TRANSCRIPTIONAL SILENCING
Caterina Da-Rè, Sophia von Stockum, Alberto Biscontin, Caterina Millino, Paola Cisotto, Mauro A. Zordan, Massimo Zeviani, Paolo Bernardi, Cristiano De Pittà, Rodolfo Costa
J Biol Chem. 2014 Oct 17; 289(42): 29235–29246. Published online 2014 Aug 27. doi: 10.1074/jbc.M114.602938
PMCID:
PMC4200275
AbstractArticlePDF–2.5M
20.
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies
Daria Diodato, Laura Melchionda, Tobias B Haack, Cristina Dallabona, Enrico Baruffini, Claudia Donnini, Tiziana Granata, Francesca Ragona, Paolo Balestri, Maria Margollicci, Eleonora Lamantea, Alessia Nasca, Christopher A Powell, Michal Minczuk, Tim M Strom, Thomas Meitinger, Holger Prokisch, Costanza Lamperti, Massimo Zeviani, Daniele Ghezzi
Hum Mutat. 2014 Aug; 35(8): 983–989. Published online 2014 May 14. doi: 10.1002/humu.22590
PMCID:
PMC4140549
AbstractArticlePDF–522K

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