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Items: 1 to 20 of 89

1.
Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease
Kaela O’Connor, Sally Spendiff, Hanns Lochmüller, Rita Horvath
Int J Mol Sci. 2023 May; 24(10): 8505. Published online 2023 May 9. doi: 10.3390/ijms24108505
PMCID:
PMC10218558
ArticlePDF–1.6M
2.
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou
Hum Mutat. 2022 Dec; 43(12): 1970–1978. Published online 2022 Sep 7. doi: 10.1002/humu.24453
PMCID:
PMC9771894
ArticlePDF–1.3M
3.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
Rauan Kaiyrzhanov, Sami E.M. Mohammed, Reza Maroofian, Ralf A. Husain, Alessia Catania, Alessandra Torraco, Ahmad Alahmad, Marina Dutra-Clarke, Sabine Grønborg, Annapurna Sudarsanam, Julie Vogt, Filippo Arrigoni, Julia Baptista, Shahzad Haider, René G. Feichtinger, Paolo Bernardi, Alessandra Zulian, Mirjana Gusic, Stephanie Efthymiou, Renkui Bai, Farah Bibi, Alejandro Horga, Julian A. Martinez-Agosto, Amanda Lam, Andreea Manole, Diego-Perez Rodriguez, Romina Durigon, Angela Pyle, Buthaina Albash, Carlo Dionisi-Vici, David Murphy, Diego Martinelli, Enrico Bugiardini, Katrina Allis, Costanza Lamperti, Siegfried Reipert, Lotte Risom, Lucia Laugwitz, Michela Di Nottia, Robert McFarland, Laura Vilarinho, Michael Hanna, Holger Prokisch, Johannes A. Mayr, Enrico Silvio Bertini, Daniele Ghezzi, Elsebet Østergaard, Saskia B. Wortmann, Rosalba Carrozzo, Tobias B. Haack, Robert W. Taylor, Antonella Spinazzola, Karin Nowikovsky, Henry Houlden
Am J Hum Genet. 2022 Sep 1; 109(9): 1692–1712. Published online 2022 Sep 1. doi: 10.1016/j.ajhg.2022.07.007
PMCID:
PMC9502063
ArticlePDF–3.8M
4.
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease
Florian A Rosenberger, Jia Xin Tang, Kate Sergeant, Marco F Moedas, Charlotte M Zierz, David Moore, Conrad Smith, David Lewis, Nishan Guha, Sila Hopton, Gavin Falkous, Amanda Lam, Angela Pyle, Joanna Poulton, Gráinne S Gorman, Robert W Taylor, Christoph Freyer, Anna Wredenberg
Hum Mol Genet. 2022 Jun 15; 31(12): 2049–2062. Published online 2022 Jan 13. doi: 10.1093/hmg/ddac002
PMCID:
PMC9239748
ArticlePDF–1.7M
5.
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth
Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177
PMCID:
PMC9037555
ArticlePDF–2.0M
6.
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
Guido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, Heike Kölbel, Anja Lekaj, Ulrike Schara, Manuel Holtgrewe, Sabine Krause, Rita Horvath, Markus Schuelke, Christoph Hübner, Stefan Mundlos, Andreas Roos, Hanns Lochmüller, Veronika Karcagi, Uwe Kornak, Björn Fischer‐Zirnsak
J Inherit Metab Dis. 2021 Jul; 44(4): 972–986. Published online 2021 Feb 4. doi: 10.1002/jimd.12341
PMCID:
PMC8638669
ArticlePDF–10M
7.
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases
Federica Marra, Paola Lunetti, Rosita Curcio, Francesco Massimo Lasorsa, Loredana Capobianco, Vito Porcelli, Vincenza Dolce, Giuseppe Fiermonte, Pasquale Scarcia
Biomolecules. 2021 Nov; 11(11): 1633. Published online 2021 Nov 4. doi: 10.3390/biom11111633
PMCID:
PMC8615828
ArticlePDF–1.5M
8.
Development and Characterization of a Mouse Model for Acad9 deficiency
Andrew Sinsheimer, Al-Walid Mohsen, Kailyn Bloom, Anuradha Karunanidhi, Sivakama Bharathi, Yijen L. Wu, Manuel Schiff, Yudong Wang, Eric S. Goetzman, Lina Ghaloul-Gonzalez, Jerry Vockley
Mol Genet Metab. Author manuscript; available in PMC 2022 Sep 14.
Published in final edited form as: Mol Genet Metab. 2021 Sep-Oct; 134(1-2): 156–163. Published online 2021 Sep 14. doi: 10.1016/j.ymgme.2021.09.002
PMCID:
PMC8588265
ArticlePDF–1.8M
9.
Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers
Matthias Elstner, Konrad Olszewski, Holger Prokisch, Thomas Klopstock, Marta Murgia
Int J Mol Sci. 2021 Oct; 22(20): 11080. Published online 2021 Oct 14. doi: 10.3390/ijms222011080
PMCID:
PMC8537949
ArticlePDF–9.7M
10.
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations
M.A. Shahrour, O. Staretz-Chacham, D. Dayan, J. Stephen, A. Weech, N. Damseh, H. Pri Chen, S. Edvardson, S. Mazaheri, A. Saada, NISC Intramural Sequencing, E. Hershkovitz, A. Shaag, M. Huizing, B. Abu-Libdeh, W.A Gahl, A. Azem, Y. Anikster, T. Vilboux, O. Elpeleg, M.C. Malicdan
Clin Genet. Author manuscript; available in PMC 2021 Aug 12.
Published in final edited form as: Clin Genet. 2017 May; 91(5): 690–696. Published online 2016 Oct 12. doi: 10.1111/cge.12855
PMCID:
PMC8359539
ArticlePDF–398K
11.
Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase Beta Gene
Purificacion Gutiérrez Ríos, Arun A. Kalra, Jon D. Wilson, Kurenai Tanji, Hasan O. Akman, Estela Area Gómez, Eric A. Schon, Salvatore DiMauro
Arch Neurol. Author manuscript; available in PMC 2021 Jul 13.
Published in final edited form as: Arch Neurol. 2012 May; 69(5): 657–661. doi: 10.1001/archneurol.2011.2333
PMCID:
PMC8276349
ArticlePDF–1.2M
12.
Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
Laura Licchetta, Lorenzo Ferri, Chiara La Morgia, Corrado Zenesini, Leonardo Caporali, Maria Lucia Valentino, Raffaella Minardi, Daniela Fulitano, Lidia Di Vito, Barbara Mostacci, Lara Alvisi, Patrizia Avoni, Rocco Liguori, Paolo Tinuper, Francesca Bisulli, Valerio Carelli
Ann Clin Transl Neurol. 2021 Mar; 8(3): 704–710. Published online 2021 Jan 21. doi: 10.1002/acn3.51259
PMCID:
PMC7951109
ArticlePDF–598K
13.
Muscle Krüppel-like factor 15 regulates lipid flux and systemic metabolic homeostasis
Liyan Fan, David R. Sweet, Domenick A. Prosdocimo, Vinesh Vinayachandran, Ernest R. Chan, Rongli Zhang, Olga Ilkayeva, Yuan Lu, Komal S. Keerthy, Chloe E. Booth, Christopher B. Newgard, Mukesh K. Jain
J Clin Invest. 2021 Feb 15; 131(4): e139496. Published online 2021 Feb 15. doi: 10.1172/JCI139496
PMCID:
PMC7880311
ArticlePDF–4.5M
14.
A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype
Kimberly A. Kripps, Marisa W. Friederich, Ting Chen, Austin A. Larson, David M. Mirsky, Yue Wang, Kurenai Tanji, Kaz M. Knight, Lee-Jun Wong, Johan L.K. Van Hove
Mol Genet Metab. Author manuscript; available in PMC 2021 Dec 1.
Published in final edited form as: Mol Genet Metab. 2020 Dec; 131(4): 398–404. Published online 2020 Nov 24. doi: 10.1016/j.ymgme.2020.11.006
PMCID:
PMC7749820
ArticlePDF–706K
15.
Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease
Magda Cannata Serio, Laurie A. Graham, Angel Ashikov, Lars Elmann Larsen, Kimiyo Raymond, Sharita Timal, Gwenn Le Meur, Margret Ryan, Elzbieta Czarnowska, Jos C. Jansen, Miao He, Can Ficicioglu, Pavel Pichurin, Linda Hasadsri, Berge Minassian, Alessandra Rugierri, Hannu Kalimo, W. Alfredo Ríos‐Ocampo, Christian Gilissen, Richard Rodenburg, Johan W. Jonker, Adriaan G. Holleboom, Eva Morava, Joris A. Veltman, Piotr Socha, Tom H. Stevens, Matias Simons, Dirk J. Lefeber
Hepatology. 2020 Dec; 72(6): 1968–1986. Published online 2020 Dec 23. doi: 10.1002/hep.31218
Correction in:
Hepatology. 2022 Mar; 75(3): 772.
PMCID:
PMC7483274
ArticlePDF–2.6M
16.
Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria
Catherine H. Le, Lindsay G. Benage, Kalyn S. Specht, Lance C. Li Puma, Christopher M. Mulligan, Adam L. Heuberger, Jessica E. Prenni, Steven M. Claypool, Kathryn C. Chatfield, Genevieve C. Sparagna, Adam J. Chicco
J Biol Chem. 2020 Aug 28; 295(35): 12485–12497. Published online 2020 Jul 14. doi: 10.1074/jbc.RA119.011229
PMCID:
PMC7458807
ArticlePDF–2.5M
17.
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review
Ferdinando Palmieri, Pasquale Scarcia, Magnus Monné
Biomolecules. 2020 Apr; 10(4): 655. Published online 2020 Apr 23. doi: 10.3390/biom10040655
PMCID:
PMC7226361
ArticlePDF–2.8M
18.
Myopathy reversion in mice after restauration of mitochondrial complex I
Claudia V Pereira, Susana Peralta, Tania Arguello, Sandra R Bacman, Francisca Diaz, Carlos T Moraes
EMBO Mol Med. 2020 Feb 7; 12(2): e10674. Published online 2020 Jan 9. doi: 10.15252/emmm.201910674
PMCID:
PMC7005622
ArticlePDF–1.8M
19.
Mitochondrial Encephalomyopathy in Drosophila
Alicia M. Celotto, Adam C. Frank, Steven W. McGrath, Tim Fergestad, Wayne A. Van Voorhies, Karolyn F. Buttle, Carmen A. Mannella, Michael J. Palladino
J Neurosci. 2006 Jan 18; 26(3): 810–820. doi: 10.1523/JNEUROSCI.4162-05.2006
PMCID:
PMC6675365
ArticlePDF–611K
20.
Disease-Associated Genetic Variation in Human Mitochondrial Protein Import
Emmanuelle Nicolas, Rossella Tricarico, Michelle Savage, Erica A. Golemis, Michael J. Hall
Am J Hum Genet. 2019 May 2; 104(5): 784–801. Published online 2019 May 2. doi: 10.1016/j.ajhg.2019.03.019
PMCID:
PMC6506819
ArticlePDF–2.4M

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