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Results: 1 to 20 of 104

1.

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 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5.

PMID:
23462291
[PubMed - indexed for MEDLINE]
Free Article
2.

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. doi: 10.1091/mbc.E11-09-0772. Epub 2012 Feb 9.

PMID:
22323289
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005.

PMID:
22077971
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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. doi: 10.1007/s10545-012-9489-7. Epub 2012 May 5.

PMID:
22562699
[PubMed - indexed for MEDLINE]
5.

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J.

Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001.

PMID:
20598274
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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 15;22(22):4460-73. doi: 10.1093/hmg/ddt295. Epub 2013 Jun 28.

PMID:
23814038
[PubMed - indexed for MEDLINE]
7.

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 2;286(48):41205-16. doi: 10.1074/jbc.M111.296152. Epub 2011 Oct 10.

PMID:
21987576
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22.

PMID:
23179554
[PubMed - indexed for MEDLINE]
9.

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Kollberg G, Tulinius M, Melberg A, Darin N, Andersen O, Holmgren D, Oldfors A, Holme E.

Brain. 2009 Aug;132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30.

PMID:
19567699
[PubMed - indexed for MEDLINE]
Free Article
10.

Mitochondrial Iba57p is required for Fe/S cluster formation on aconitase and activation of radical SAM enzymes.

Gelling C, Dawes IW, Richhardt N, Lill R, Mühlenhoff U.

Mol Cell Biol. 2008 Mar;28(5):1851-61. Epub 2007 Dec 17.

PMID:
18086897
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.

Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A.

J Med Genet. 2013 Mar;50(3):151-9. doi: 10.1136/jmedgenet-2012-101375. Epub 2013 Jan 12.

PMID:
23315540
[PubMed - indexed for MEDLINE]
12.

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ.

Am J Hum Genet. 2011 Apr 8;88(4):488-93. doi: 10.1016/j.ajhg.2011.03.002. Epub 2011 Mar 31.

PMID:
21457908
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM.

Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27.

PMID:
23022099
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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 7;89(4):486-95. doi: 10.1016/j.ajhg.2011.08.011. Epub 2011 Sep 22.

PMID:
21944046
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.

Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M.

J Med Genet. 2000 Sep;37(9):669-73.

PMID:
10978358
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Sanaker PS, Toompuu M, Hogan VE, He L, Tzoulis C, Chrzanowska-Lightowlers ZM, Taylor RW, Bindoff LA.

Biochim Biophys Acta. 2010 Jun;1802(6):539-44. doi: 10.1016/j.bbadis.2010.02.010. Epub 2010 Mar 4.

PMID:
20206689
[PubMed - indexed for MEDLINE]
Free Article
17.

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.

Vilain C, Rens C, Aeby A, Balériaux D, Van Bogaert P, Remiche G, Smet J, Van Coster R, Abramowicz M, Pirson I.

Clin Genet. 2012 Sep;82(3):264-70. doi: 10.1111/j.1399-0004.2011.01743.x. Epub 2011 Jul 18.

PMID:
21696386
[PubMed - indexed for MEDLINE]
18.

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.

Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H.

Am J Med Genet A. 2013 Sep;161(9):2204-15. doi: 10.1002/ajmg.a.36059. Epub 2013 Aug 5.

PMID:
23918762
[PubMed - indexed for MEDLINE]
19.

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

Mobley BC, Enns GM, Wong LJ, Vogel H.

Clin Neuropathol. 2009 Mar-Apr;28(2):143-9.

PMID:
19353847
[PubMed - indexed for MEDLINE]
20.

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.

Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R.

Hum Mutat. 2009 Mar;30(3):E490-9. doi: 10.1002/humu.20941.

PMID:
19105189
[PubMed - indexed for MEDLINE]

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