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Items: 1 to 20 of 113

1.

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.

Hum Mol Genet. 2007 May 15;16(10):1241-52. Epub 2007 Apr 2.

PMID:
17403714
3.

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.

Jackson CB, Bauer MF, Schaller A, Kotzaeridou U, Ferrarini A, Hahn D, Chehade H, Barbey F, Tran C, Gallati S, Haeberli A, Eggimann S, Bonafé L, Nuoffer JM.

Eur J Pediatr. 2016 Apr;175(4):517-25. doi: 10.1007/s00431-015-2661-y. Epub 2015 Nov 13.

PMID:
26563427
4.

Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases.

Meunier B, Fisher N, Ransac S, Mazat JP, Brasseur G.

Biochim Biophys Acta. 2013 Nov-Dec;1827(11-12):1346-61. doi: 10.1016/j.bbabio.2012.11.015. Epub 2012 Dec 5. Review.

5.

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE.

N Engl J Med. 2007 Feb 22;356(8):809-19.

6.

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Tuppen HA, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW.

Mol Genet Metab. 2010 Aug;100(4):345-8. doi: 10.1016/j.ymgme.2010.04.010. Epub 2010 Apr 24.

PMID:
20472482
7.

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L.

Am J Hum Genet. 2002 Oct;71(4):863-76. Epub 2002 Sep 5.

8.

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C, Zeviani M.

Hum Mutat. 2013 Dec;34(12):1619-22. doi: 10.1002/humu.22441. Epub 2013 Sep 23.

9.

Protease maturation of the Rieske iron-sulphur protein after its insertion into the mitochondrial cytochrome bc1 complex of Saccharomyces cerevisiae.

Graham LA, Brandt U, Trumpower BL.

Biochem Soc Trans. 1994 Feb;22(1):188-91. Review. No abstract available.

PMID:
8206223
10.

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.

Blázquez A, Gil-Borlado MC, Morán M, Verdú A, Cazorla-Calleja MR, Martín MA, Arenas J, Ugalde C.

Neuromuscul Disord. 2009 Feb;19(2):143-6. doi: 10.1016/j.nmd.2008.11.016. Epub 2009 Jan 21.

PMID:
19162478
11.

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.

Morán M, Marín-Buera L, Gil-Borlado MC, Rivera H, Blázquez A, Seneca S, Vázquez-López M, Arenas J, Martín MA, Ugalde C.

Hum Mutat. 2010 Aug;31(8):930-41. doi: 10.1002/humu.21294.

PMID:
20518024
13.

The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.

Levéen P, Kotarsky H, Mörgelin M, Karikoski R, Elmér E, Fellman V.

Hepatology. 2011 Feb;53(2):437-47. doi: 10.1002/hep.24031. Epub 2010 Dec 28.

PMID:
21274865
14.

Clinical and biochemical features associated with BCS1L mutation.

Al-Owain M, Colak D, Albakheet A, Al-Younes B, Al-Humaidi Z, Al-Sayed M, Al-Hindi H, Al-Sugair A, Al-Muhaideb A, Rahbeeni Z, Al-Sehli A, Al-Fadhli F, Ozand PT, Taylor RW, Kaya N.

J Inherit Metab Dis. 2013 Sep;36(5):813-20. doi: 10.1007/s10545-012-9536-4. Epub 2012 Sep 19.

PMID:
22991165
15.

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chrétien D, Kadhom N, Lombès A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rötig A.

Nat Genet. 2001 Sep;29(1):57-60.

PMID:
11528392
16.

Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

Gil-Borlado MC, González-Hoyuela M, Blázquez A, García-Silva MT, Gabaldón T, Manzanares J, Vara J, Martín MA, Seneca S, Arenas J, Ugalde C.

Mitochondrion. 2009 Sep;9(5):299-305. doi: 10.1016/j.mito.2009.04.001. Epub 2009 Apr 21.

PMID:
19389488
17.

Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.

Fellman V, Lemmelä S, Sajantila A, Pihko H, Järvelä I.

J Hum Genet. 2008;53(6):554-8. doi: 10.1007/s10038-008-0284-0. Epub 2008 Apr 2.

PMID:
18386115
18.
19.

Alteration of the midpoint potential and catalytic activity of the rieske iron-sulfur protein by changes of amino acids forming hydrogen bonds to the iron-sulfur cluster.

Denke E, Merbitz-Zahradnik T, Hatzfeld OM, Snyder CH, Link TA, Trumpower BL.

J Biol Chem. 1998 Apr 10;273(15):9085-93.

20.

Potential ligands to the [2Fe-2S] Rieske cluster of the cytochrome bc1 complex of Rhodobacter capsulatus probed by site-directed mutagenesis.

Davidson E, Ohnishi T, Atta-Asafo-Adjei E, Daldal F.

Biochemistry. 1992 Apr 7;31(13):3342-51.

PMID:
1313292

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