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Results: 1 to 20 of 134

1.

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
[PubMed - indexed for MEDLINE]
2.

[GRACILE syndrome--a severe neonatal mitochondrial disorder].

Fellman V.

Duodecim. 2012;128(15):1560-7. Review. Finnish.

PMID:
22970607
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation.

Kotarsky H, Keller M, Davoudi M, Levéen P, Karikoski R, Enot DP, Fellman V.

PLoS One. 2012;7(7):e41156. doi: 10.1371/journal.pone.0041156. Epub 2012 Jul 19.

PMID:
22829922
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Complex I function and supercomplex formation are preserved in liver mitochondria despite progressive complex III deficiency.

Davoudi M, Kotarsky H, Hansson E, Fellman V.

PLoS One. 2014 Jan 22;9(1):e86767. doi: 10.1371/journal.pone.0086767. eCollection 2014.

PMID:
24466228
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation.

Kotarsky H, Karikoski R, Mörgelin M, Marjavaara S, Bergman P, Zhang DL, Smet J, van Coster R, Fellman V.

Mitochondrion. 2010 Aug;10(5):497-509. doi: 10.1016/j.mito.2010.05.009. Epub 2010 May 23.

PMID:
20580947
[PubMed - indexed for MEDLINE]
8.

Mitochondrial hepatopathies in the newborn period.

Fellman V, Kotarsky H.

Semin Fetal Neonatal Med. 2011 Aug;16(4):222-8. doi: 10.1016/j.siny.2011.05.002. Epub 2011 Jun 15. Review.

PMID:
21680270
[PubMed - indexed for MEDLINE]
9.

The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload.

Fellman V.

Blood Cells Mol Dis. 2002 Nov-Dec;29(3):444-50.

PMID:
12547234
[PubMed - indexed for MEDLINE]
10.

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.

Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N.

Hum Mutat. 2013 Mar;34(3):446-52. doi: 10.1002/humu.22257. Epub 2013 Jan 29.

PMID:
23281071
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
12215968
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR.

PLoS Genet. 2013;9(12):e1004034. doi: 10.1371/journal.pgen.1004034. Epub 2013 Dec 26.

PMID:
24385928
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
24014394
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
Free Article
16.

A mild impairment of mitochondrial electron transport has sex-specific effects on lifespan and aging in mice.

Hughes BG, Hekimi S.

PLoS One. 2011;6(10):e26116. doi: 10.1371/journal.pone.0026116. Epub 2011 Oct 10.

PMID:
22028811
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
17314340
[PubMed - indexed for MEDLINE]
Free Article
18.

Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.

Ezgu F, Senaca S, Gunduz M, Tumer L, Hasanoglu A, Tiras U, Unsal R, Bakkaloglu SA.

Gene. 2013 Oct 10;528(2):364-6. doi: 10.1016/j.gene.2013.07.007. Epub 2013 Jul 26.

PMID:
23892085
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

BCS1L is expressed in critical regions for neural development during ontogenesis in mice.

Kotarsky H, Tabasum I, Mannisto S, Heikinheimo M, Hansson S, Fellman V.

Gene Expr Patterns. 2007 Jan;7(3):266-73. Epub 2006 Sep 16.

PMID:
17049929
[PubMed - indexed for MEDLINE]
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