PMC Articles for MedGen (Select 478062) - PMC

Select item 84286841.

Allele-specific mitochondrial stress induced by Multiple Mitochondrial Dysfunctions Syndrome 1 pathogenic mutations modeled in Caenorhabditis elegans

Peter A. Kropp, Jing Wu, Michael Reidy, Sanjay Shrestha, Kyle Rhodehouse, Philippa Rogers, Michael N. Sack, Andy Golden

PLoS Genet. 2021 Aug; 17(8): e1009771. Published online 2021 Aug 27. doi: 10.1371/journal.pgen.1009771

PMCID:: PMC8428684

Abstract Article PDF–3.2M

Select item 67163102.

“Idiopathic” pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency

Paquay Stéphanie, Barrea Catherine, Sluysmans Thierry, Vachiery Jean-Luc, Loeckx Isabelle, Seneca Sara, Vô Christophe, Nassogne Marie-Cécile

Ann Pediatr Cardiol. 2019 Sep-Dec; 12(3): 325–328. doi: 10.4103/apc.APC_136_18

PMCID:: PMC6716310

Abstract Article PDF–957K

Select item 56960303.

Understanding the Molecular Basis for Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1): Impact of a Disease-Causing Gly189Arg Substitution on NFU1

Nathaniel A. Wesley, Christine Wachnowsky, Insiya Fidai, J. A. Cowan

FEBS J. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: FEBS J. 2017 Nov; 284(22): 3838–3848. Published online 2017 Oct 12. doi: 10.1111/febs.14271

PMCID:: PMC5696030

Abstract Article PDF–1.2M

Select item 54668084.

Understanding the Molecular Basis for Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1) - Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway

Christine Wachnowsky, Nathaniel A. Wesley, Insiya Fidai, J. A. Cowan

J Mol Biol. Author manuscript; available in PMC 2018 Mar 24.

Published in final edited form as: J Mol Biol. 2017 Mar 24; 429(6): 790–807. Published online 2017 Feb 1. doi: 10.1016/j.jmb.2017.01.021

PMCID:: PMC5466808

Abstract Article PDF–1.5M

Select item 43946985.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Uwe Ahting, Johannes A. Mayr, Arnaud V. Vanlander, Steven A. Hardy, Saikat Santra, Christine Makowski, Charlotte L. Alston, Franz A. Zimmermann, Lucia Abela, Barbara Plecko, Marianne Rohrbach, Stephanie Spranger, Sara Seneca, Boris Rolinski, Angela Hagendorff, Maja Hempel, Wolfgang Sperl, Thomas Meitinger, Joél Smet, Robert W. Taylor, Rudy Van Coster, Peter Freisinger, Holger Prokisch, Tobias B. Haack

Front Genet. 2015; 6: 123. Published online 2015 Apr 13. doi: 10.3389/fgene.2015.00123

PMCID:: PMC4394698

Abstract Article PDF–4.3M

Select item 97353686.

Phenotypic continuum of NFU1‐related disorders

Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian

Ann Clin Transl Neurol. 2022 Dec; 9(12): 2025–2035. Published online 2022 Oct 18. doi: 10.1002/acn3.51679

PMCID:: PMC9735368

Abstract Article PDF–1.4M

Select item 69935427.

Rats with a Human Mutation of NFU1 Develop Pulmonary Hypertension

Maki Niihori, Cody A. Eccles, Sergey Kurdyukov, Marina Zemskova, Mathews Valuparampil Varghese, Anna A. Stepanova, Alexander Galkin, Ruslan Rafikov, Olga Rafikova

Am J Respir Cell Mol Biol. 2020 Feb; 62(2): 231–242. doi: 10.1165/rcmb.2019-0065OC

PMCID:: PMC6993542

Abstract Article PDF–1.7M

Select item 72614928.

ISCU interacts with NFU1, and ISCU[4Fe-4S] transfers its Fe-S cluster to NFU1 leading to the production of holo-NFU1

Kai Cai, Ronnie O. Frederick, John L. Markley

J Struct Biol. Author manuscript; available in PMC 2021 May 1.

Published in final edited form as: J Struct Biol. 2020 May 1; 210(2): 107491. Published online 2020 Mar 6. doi: 10.1016/j.jsb.2020.107491

PMCID:: PMC7261492

Abstract Article PDF–2.1M

Select item 51676779.

Iron–sulfur cluster exchange reactions mediated by the human Nfu protein

Christine Wachnowsky, Insiya Fidai, J. A. Cowan

J Biol Inorg Chem. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: J Biol Inorg Chem. 2016 Oct; 21(7): 825–836. Published online 2016 Aug 18. doi: 10.1007/s00775-016-1381-8

PMCID:: PMC5167677

Abstract Article PDF–1.3M

Select item 516657810.

Structural/Functional Properties of Human NFU1, an Intermediate [4Fe-4S] Carrier in Human Mitochondrial Iron-Sulfur Cluster Biogenesis

Kai Cai, Gaohua Liu, Ronnie O. Frederick, Rong Xiao, Gaetano T. Montelione, John L. Markley

Structure. Author manuscript; available in PMC 2016 Dec 19.

Published in final edited form as: Structure. 2016 Dec 6; 24(12): 2080–2091. Published online 2016 Nov 3. doi: 10.1016/j.str.2016.08.020

PMCID:: PMC5166578

Abstract Article PDF–1.6M

Select item 423840311.

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Federica Invernizzi, Anna Ardissone, Eleonora Lamantea, Barbara Garavaglia, Massimo Zeviani, Laura Farina, Daniele Ghezzi, Isabella Moroni

Front Genet. 2014; 5: 412. Published online 2014 Nov 20. doi: 10.3389/fgene.2014.00412

PMCID:: PMC4238403

Abstract Article PDF–1.6M

Select item 992273412.

Patient-specific variants of NFU1/NFU-1 disrupt cholinergic signaling in a model of multiple mitochondrial dysfunctions syndrome 1

Peter A. Kropp, Philippa Rogers, Sydney E. Kelly, Rebecca McWhirter, Willow D. Goff, Ian M. Levitan, David M. Miller, III, Andy Golden

Dis Model Mech. 2023 Feb 1; 16(2): dmm049594. Published online 2023 Feb 1. doi: 10.1242/dmm.049594

PMCID:: PMC9922734

Abstract Article

Select item 812568613.

Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation

Giovanni Saudino, Dafne Suraci, Veronica Nasta, Simone Ciofi-Baffoni, Lucia Banci

Int J Mol Sci. 2021 May; 22(9): 4848. Published online 2021 May 3. doi: 10.3390/ijms22094848

PMCID:: PMC8125686

Abstract Article PDF–3.0M

Select item 548474414.

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Anju Shukla, Malavika Hebbar, Anshika Srivastava, Rajagopal Kadavigere, Priyanka Upadhyai, Anil Kanthi, Oliver Brandau, Stephanie Bielas, Katta M Girisha

J Hum Genet. Author manuscript; available in PMC 2017 Sep 30.

Published in final edited form as: J Hum Genet. 2017 Jul; 62(7): 723–727. Published online 2017 Mar 30. doi: 10.1038/jhg.2017.35

PMCID:: PMC5484744

Abstract Article PDF–368K

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