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5. Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. Tegelberg S; Tomašić N; Kallijärvi J; Purhonen J; Elmér E; Lindberg E; Nord DG; Soller M; Lesko N; Wedell A; Bruhn H; Freyer C; Stranneheim H; Wibom R; Nennesmo I; Wredenberg A; Eklund EA; Fellman V Orphanet J Rare Dis; 2017 Apr; 12(1):73. PubMed ID: 28427446 [TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 21274865 [TBL] [Abstract][Full Text] [Related]
7. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. Oláhová M; Ceccatelli Berti C; Collier JJ; Alston CL; Jameson E; Jones SA; Edwards N; He L; Chinnery PF; Horvath R; Goffrini P; Taylor RW; Sayer JA Hum Mol Genet; 2019 Nov; 28(22):3766-3776. PubMed ID: 31435670 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 22991165 [TBL] [Abstract][Full Text] [Related]
9. 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):554-558. PubMed ID: 18386115 [TBL] [Abstract][Full Text] [Related]
10. Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome. Guo W; Shao Y; Lang Y; Wang H; Lin Y; Liu X; Zhang R; Shao L Nephrology (Carlton); 2022 Oct; 27(10):810-814. PubMed ID: 35960161 [TBL] [Abstract][Full Text] [Related]
12. Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice. Tomašić N; Kotarsky H; de Oliveira Figueiredo R; Hansson E; Mörgelin M; Tomašić I; Kallijärvi J; Elmér E; Jauhiainen M; Eklund EA; Fellman V Biochim Biophys Acta Mol Basis Dis; 2020 Jan; 1866(1):165573. PubMed ID: 31672551 [TBL] [Abstract][Full Text] [Related]
13. 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; 528(2):364-6. PubMed ID: 23892085 [TBL] [Abstract][Full Text] [Related]
14. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Fellman V Blood Cells Mol Dis; 2002; 29(3):444-50. PubMed ID: 12547234 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 12215968 [TBL] [Abstract][Full Text] [Related]
17. Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37. Visapää I; Fellman V; Varilo T; Palotie A; Raivio KO; Peltonen L Am J Hum Genet; 1998 Nov; 63(5):1396-403. PubMed ID: 9792866 [TBL] [Abstract][Full Text] [Related]
18. Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE). Rapola J; Heikkilä P; Fellman V Pediatr Pathol Mol Med; 2002; 21(2):183-93. PubMed ID: 11942535 [TBL] [Abstract][Full Text] [Related]
19. Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant. Fellman V; Visapää I; Vujic M; Wennerholm UB; Peltonen L Acta Obstet Gynecol Scand; 2002 May; 81(5):398-402. PubMed ID: 12027811 [TBL] [Abstract][Full Text] [Related]
20. 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 J Inherit Metab Dis; 2011 Jun; 34(3):741-7. PubMed ID: 21484424 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]