These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 37588046)

  • 1. A novel IBA57 variant is associated with mitochondrial iron-sulfur protein deficiency and necrotizing myelopathy in dogs.
    Mandigers PJJ; Stehling O; Vos-Loohuis M; Van Steenbeek FG; Lill R; Leegwater PA
    Front Genet; 2023; 14():1190222. PubMed ID: 37588046
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. The iron-sulfur cluster assembly (ISC) protein Iba57 executes a tetrahydrofolate-independent function in mitochondrial [4Fe-4S] protein maturation.
    Mühlenhoff U; Weiler BD; Nadler F; Millar R; Kothe I; Freibert SA; Altegoer F; Bange G; Lill R
    J Biol Chem; 2022 Oct; 298(10):102465. PubMed ID: 36075292
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
    Ajit Bolar N; Vanlander AV; Wilbrecht C; Van der Aa N; Smet J; De Paepe B; Vandeweyer G; Kooy F; Eyskens F; De Latter E; Delanghe G; Govaert P; Leroy JG; Loeys B; Lill R; Van Laer L; Van Coster R
    Hum Mol Genet; 2013 Jul; 22(13):2590-602. PubMed ID: 23462291
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
    Lossos A; Stümpfig C; Stevanin G; Gaussen M; Zimmerman BE; Mundwiller E; Asulin M; Chamma L; Sheffer R; Misk A; Dotan S; Gomori JM; Ponger P; Brice A; Lerer I; Meiner V; Lill R
    Neurology; 2015 Feb; 84(7):659-67. PubMed ID: 25609768
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
    Torraco A; Stehling O; Stümpfig C; Rösser R; De Rasmo D; Fiermonte G; Verrigni D; Rizza T; Vozza A; Di Nottia M; Diodato D; Martinelli D; Piemonte F; Dionisi-Vici C; Bertini E; Lill R; Carrozzo R
    Hum Mol Genet; 2018 Aug; 27(15):2739-2754. PubMed ID: 29767723
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.
    Sheftel AD; Wilbrecht C; Stehling O; Niggemeyer B; Elsässer HP; Mühlenhoff U; Lill R
    Mol Biol Cell; 2012 Apr; 23(7):1157-66. PubMed ID: 22323289
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery.
    Nasta V; Da Vela S; Gourdoupis S; Ciofi-Baffoni S; Svergun DI; Banci L
    Sci Rep; 2019 Dec; 9(1):18986. PubMed ID: 31831856
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
    Torraco A; Ardissone A; Invernizzi F; Rizza T; Fiermonte G; Niceta M; Zanetti N; Martinelli D; Vozza A; Verrigni D; Di Nottia M; Lamantea E; Diodato D; Tartaglia M; Dionisi-Vici C; Moroni I; Farina L; Bertini E; Ghezzi D; Carrozzo R
    J Neurol; 2017 Jan; 264(1):102-111. PubMed ID: 27785568
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
    Hamanaka K; Miyatake S; Zerem A; Lev D; Blumkin L; Yokochi K; Fujita A; Imagawa E; Iwama K; Nakashima M; Mitsuhashi S; Mizuguchi T; Takata A; Miyake N; Saitsu H; van der Knaap MS; Lerman-Sagie T; Matsumoto N
    J Hum Genet; 2018 Dec; 63(12):1223-1229. PubMed ID: 30258207
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.
    Zhan F; Liu X; Ni R; Liu T; Cao Y; Wu J; Tian W; Luan X; Cao L
    Metab Brain Dis; 2022 Feb; 37(2):311-317. PubMed ID: 34709542
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.
    Lang SH; Camponeschi F; Joya E; Borjas-Mendoza P; Tekin M; Thorson W
    Genes (Basel); 2022 Nov; 13(11):. PubMed ID: 36360281
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Specialized function of yeast Isa1 and Isa2 proteins in the maturation of mitochondrial [4Fe-4S] proteins.
    Mühlenhoff U; Richter N; Pines O; Pierik AJ; Lill R
    J Biol Chem; 2011 Dec; 286(48):41205-41216. PubMed ID: 21987576
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.
    Liu M; Zhang J; Zhang Z; Zhou L; Jiang Y; Wang J; Xiao J; Wu Y
    Clin Genet; 2018 Feb; 93(2):235-241. PubMed ID: 28671726
    [TBL] [Abstract][Full Text] [Related]  

  • 15.
    Ishiyama A; Sakai C; Matsushima Y; Noguchi S; Mitsuhashi S; Endo Y; Hayashi YK; Saito Y; Nakagawa E; Komaki H; Sugai K; Sasaki M; Sato N; Nonaka I; Goto YI; Nishino I
    Neurol Genet; 2017 Oct; 3(5):e184. PubMed ID: 28913435
    [TBL] [Abstract][Full Text] [Related]  

  • 16. TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.
    Hahn K; Rohdin C; Jagannathan V; Wohlsein P; Baumgärtner W; Seehusen F; Spitzbarth I; Grandon R; Drögemüller C; Jäderlund KH
    PLoS One; 2015; 10(11):e0141824. PubMed ID: 26555167
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mitochondrial [4Fe-4S] protein assembly involves reductive [2Fe-2S] cluster fusion on ISCA1-ISCA2 by electron flow from ferredoxin FDX2.
    Weiler BD; Brück MC; Kothe I; Bill E; Lill R; Mühlenhoff U
    Proc Natl Acad Sci U S A; 2020 Aug; 117(34):20555-20565. PubMed ID: 32817474
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs.
    Jenkins CA; Kalmar L; Matiasek K; Mari L; Kyöstilä K; Lohi H; Schofield EC; Mellersh CS; De Risio L; Ricketts SL
    PLoS Genet; 2020 Jan; 16(1):e1008527. PubMed ID: 31999692
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies.
    Plassais J; Lagoutte L; Correard S; Paradis M; Guaguère E; Hédan B; Pommier A; Botherel N; Cadiergues MC; Pilorge P; Silversides D; Bizot M; Samuels M; Arnan C; Johnson R; Hitte C; Salbert G; Méreau A; Quignon P; Derrien T; André C
    PLoS Genet; 2016 Dec; 12(12):e1006482. PubMed ID: 28033318
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.