Fellman V - Search Results

1

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. Kotarsky H, et al. Among authors: fellman v. Mitochondrion. 2010 Aug;10(5):497-509. doi: 10.1016/j.mito.2010.05.009. Epub 2010 May 23. Mitochondrion. 2010. PMID: 20580947

2

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. Visapää I, et al. Among authors: fellman v. Am J Hum Genet. 2002 Oct;71(4):863-76. doi: 10.1086/342773. Epub 2002 Sep 5. Am J Hum Genet. 2002. PMID: 12215968 Free PMC article.

3

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. Kotarsky H, et al. Among authors: fellman v. Gene Expr Patterns. 2007 Jan;7(3):266-73. doi: 10.1016/j.modgep.2006.09.005. Epub 2006 Sep 16. Gene Expr Patterns. 2007. PMID: 17049929

4

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

Fellman V, Lemmelä S, Sajantila A, Pihko H, Järvelä I. Fellman V, et al. J Hum Genet. 2008;53(6):554-558. doi: 10.1007/s10038-008-0284-0. Epub 2008 Apr 2. J Hum Genet. 2008. PMID: 18386115

5

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. Levéen P, et al. Among authors: fellman v. Hepatology. 2011 Feb;53(2):437-47. doi: 10.1002/hep.24031. Epub 2010 Dec 28. Hepatology. 2011. PMID: 21274865

6

Complex III staining in blue native polyacrylamide gels.

Smet J, De Paepe B, Seneca S, Lissens W, Kotarsky H, De Meirleir L, Fellman V, Van Coster R. Smet J, et al. Among authors: fellman v. J Inherit Metab Dis. 2011 Jun;34(3):741-7. doi: 10.1007/s10545-011-9315-7. Epub 2011 Apr 12. J Inherit Metab Dis. 2011. PMID: 21484424

7

Mitochondrial hepatopathies in the newborn period.

Fellman V, Kotarsky H. Fellman V, et al. Semin Fetal Neonatal Med. 2011 Aug;16(4):222-8. doi: 10.1016/j.siny.2011.05.002. Epub 2011 Jun 15. Semin Fetal Neonatal Med. 2011. PMID: 21680270 Review.

8

Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

Diaz F, Kotarsky H, Fellman V, Moraes CT. Diaz F, et al. Among authors: fellman v. Semin Fetal Neonatal Med. 2011 Aug;16(4):197-204. doi: 10.1016/j.siny.2011.05.004. Epub 2011 Jun 15. Semin Fetal Neonatal Med. 2011. PMID: 21680271 Free PMC article. Review.

9

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. Kotarsky H, et al. Among authors: fellman v. PLoS One. 2012;7(7):e41156. doi: 10.1371/journal.pone.0041156. Epub 2012 Jul 19. PLoS One. 2012. PMID: 22829922 Free PMC article.

10

The radical-binding lipocalin A1M binds to a Complex I subunit and protects mitochondrial structure and function.

Olsson MG, Rosenlöf LW, Kotarsky H, Olofsson T, Leanderson T, Mörgelin M, Fellman V, Åkerström B. Olsson MG, et al. Among authors: fellman v. Antioxid Redox Signal. 2013 Jun 1;18(16):2017-28. doi: 10.1089/ars.2012.4658. Epub 2013 Jan 4. Antioxid Redox Signal. 2013. PMID: 23157686

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