BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 23179554)

  • 1. Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
    Ferrer-Cortès X; Font A; Bujan N; Navarro-Sastre A; Matalonga L; Arranz JA; Riudor E; del Toro M; Garcia-Cazorla A; Campistol J; Briones P; Ribes A; Tort F
    J Inherit Metab Dis; 2013 Sep; 36(5):841-7. PubMed ID: 23179554
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
    Navarro-Sastre A; Tort F; Stehling O; Uzarska MA; Arranz JA; Del Toro M; Labayru MT; Landa J; Font A; Garcia-Villoria J; Merinero B; Ugarte M; Gutierrez-Solana LG; Campistol J; Garcia-Cazorla A; Vaquerizo J; Riudor E; Briones P; Elpeleg O; Ribes A; Lill R
    Am J Hum Genet; 2011 Nov; 89(5):656-67. PubMed ID: 22077971
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
    Lebigot E; Gaignard P; Dorboz I; Slama A; Rio M; de Lonlay P; Héron B; Sabourdy F; Boespflug-Tanguy O; Cardoso A; Habarou F; Ottolenghi C; Thérond P; Bouton C; Golinelli-Cohen MP; Boutron A
    Mol Genet Metab; 2017 Nov; 122(3):85-94. PubMed ID: 28803783
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.
    Ferrer-Cortès X; Narbona J; Bujan N; Matalonga L; Del Toro M; Arranz JA; Riudor E; Garcia-Cazorla A; Jou C; O'Callaghan M; Pineda M; Montero R; Arias A; García-Villoria J; Alston CL; Taylor RW; Briones P; Ribes A; Tort F
    Mitochondrion; 2016 Jan; 26():72-80. PubMed ID: 26688339
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
    Tort F; Ferrer-Cortès X; Thió M; Navarro-Sastre A; Matalonga L; Quintana E; Bujan N; Arias A; García-Villoria J; Acquaviva C; Vianey-Saban C; Artuch R; García-Cazorla À; Briones P; Ribes A
    Hum Mol Genet; 2014 Apr; 23(7):1907-15. PubMed ID: 24256811
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Assembly of the [4Fe-4S] cluster of NFU1 requires the coordinated donation of two [2Fe-2S] clusters from the scaffold proteins, ISCU2 and ISCA1.
    Jain A; Singh A; Maio N; Rouault TA
    Hum Mol Genet; 2020 Nov; 29(19):3165-3182. PubMed ID: 32776106
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
    Cameron JM; Janer A; Levandovskiy V; Mackay N; Rouault TA; Tong WH; Ogilvie I; Shoubridge EA; Robinson BH
    Am J Hum Genet; 2011 Oct; 89(4):486-95. PubMed ID: 21944046
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
    Haack TB; Rolinski B; Haberberger B; Zimmermann F; Schum J; Strecker V; Graf E; Athing U; Hoppen T; Wittig I; Sperl W; Freisinger P; Mayr JA; Strom TM; Meitinger T; Prokisch H
    J Inherit Metab Dis; 2013 Jan; 36(1):55-62. PubMed ID: 22562699
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Understanding the Molecular Basis of 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.
    Wachnowsky C; Wesley NA; Fidai I; Cowan JA
    J Mol Biol; 2017 Mar; 429(6):790-807. PubMed ID: 28161430
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rats with a Human Mutation of NFU1 Develop Pulmonary Hypertension.
    Niihori M; Eccles CA; Kurdyukov S; Zemskova M; Varghese MV; Stepanova AA; Galkin A; Rafikov R; Rafikova O
    Am J Respir Cell Mol Biol; 2020 Feb; 62(2):231-242. PubMed ID: 31461310
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Analysis of NFU-1 metallocofactor binding-site substitutions-impacts on iron-sulfur cluster coordination and protein structure and function.
    Wesley NA; Wachnowsky C; Fidai I; Cowan JA
    FEBS J; 2017 Nov; 284(22):3817-3837. PubMed ID: 28906593
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
    Debray FG; Stümpfig C; Vanlander AV; Dideberg V; Josse C; Caberg JH; Boemer F; Bours V; Stevens R; Seneca S; Smet J; Lill R; van Coster R
    J Inherit Metab Dis; 2015 Nov; 38(6):1147-53. PubMed ID: 25971455
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
    Ahting U; Mayr JA; Vanlander AV; Hardy SA; Santra S; Makowski C; Alston CL; Zimmermann FA; Abela L; Plecko B; Rohrbach M; Spranger S; Seneca S; Rolinski B; Hagendorff A; Hempel M; Sperl W; Meitinger T; Smet J; Taylor RW; Van Coster R; Freisinger P; Prokisch H; Haack TB
    Front Genet; 2015; 6():123. PubMed ID: 25918518
    [TBL] [Abstract][Full Text] [Related]  

  • 14. NFU1 gene mutation and mitochondrial disorders.
    Kurt YG; Kurt B; Aydin I; Agilli M; Aydin FN
    Neurol India; 2016; 64(4):630-2. PubMed ID: 27381105
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.
    Uzunhan TA; Çakar NE; Seyhan S; Aydin K
    Brain Dev; 2020 Nov; 42(10):756-761. PubMed ID: 32747156
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.
    Nizon M; Boutron A; Boddaert N; Slama A; Delpech H; Sardet C; Brassier A; Habarou F; Delahodde A; Correia I; Ottolenghi C; de Lonlay P
    Mitochondrion; 2014 Mar; 15():59-64. PubMed ID: 24462778
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
    Lim SC; Friemel M; Marum JE; Tucker EJ; Bruno DL; Riley LG; Christodoulou J; Kirk EP; Boneh A; DeGennaro CM; Springer M; Mootha VK; Rouault TA; Leimkühler S; Thorburn DR; Compton AG
    Hum Mol Genet; 2013 Nov; 22(22):4460-73. PubMed ID: 23814038
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Differential diagnosis of lipoic acid synthesis defects.
    Tort F; Ferrer-Cortes X; Ribes A
    J Inherit Metab Dis; 2016 Nov; 39(6):781-793. PubMed ID: 27586888
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Allele-specific mitochondrial stress induced by Multiple Mitochondrial Dysfunctions Syndrome 1 pathogenic mutations modeled in Caenorhabditis elegans.
    Kropp PA; Wu J; Reidy M; Shrestha S; Rhodehouse K; Rogers P; Sack MN; Golden A
    PLoS Genet; 2021 Aug; 17(8):e1009771. PubMed ID: 34449775
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Understanding the molecular basis for multiple mitochondrial dysfunctions syndrome 1 (MMDS1): impact of a disease-causing Gly189Arg substitution on NFU1.
    Wesley NA; Wachnowsky C; Fidai I; Cowan JA
    FEBS J; 2017 Nov; 284(22):3838-3848. PubMed ID: 28906594
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.