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Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.
Brischigliaro M, Frigo E, Corrà S, De Pittà C, Szabò I, Zeviani M, Costa R. Brischigliaro M, et al. J Mol Med (Berl). 2021 Oct;99(10):1471-1485. doi: 10.1007/s00109-021-02110-1. Epub 2021 Jul 17. J Mol Med (Berl). 2021. PMID: 34274978 Free PMC article.
Mutations in BCS1L are the most frequent cause of human mitochondrial disease linked to complex III deficiency. Different forms of BCS1L-related diseases and more than 20 pathogenic alleles have been reported to date. ...
Mutations in BCS1L are the most frequent cause of human mitochondrial disease linked to complex III deficiency. Different forms of …
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
Baker RA, Priestley JRC, Wilstermann AM, Reese KJ, Mark PR. Baker RA, et al. Am J Med Genet A. 2019 Mar;179(3):373-380. doi: 10.1002/ajmg.a.61019. Epub 2018 Dec 24. Am J Med Genet A. 2019. PMID: 30582773
We analyzed all published patient cases of mutations to BCS1L and modeled the tertiary and quaternary structure of the BCS1L protein to map the location of disease-causing BCS1L mutations. ...We propose a change in nomenclature that unifies the intermediate p …
We analyzed all published patient cases of mutations to BCS1L and modeled the tertiary and quaternary structure of the BCS1L p …
BCS1L mutations produce Fanconi syndrome with developmental disability.
Kanako KI, Sakakibara N, Murayama K, Nagatani K, Murata S, Otake A, Koga Y, Suzuki H, Uehara T, Kosaki K, Yoshiura KI, Mishima H, Ichimiya Y, Mushimoto Y, Horinouchi T, Nagano C, Yamamura T, Iijima K, Nozu K. Kanako KI, et al. J Hum Genet. 2022 Mar;67(3):143-148. doi: 10.1038/s10038-021-00984-0. Epub 2021 Oct 15. J Hum Genet. 2022. PMID: 34650211
Whole-exome sequencing (WES) detected compound heterozygous known and novel BCS1L mutations, which affect the assembly of mitochondrial respiratory chain complex III, in both cases. ...Mitochondrial diseases with isolated renal symptoms are uncommon; however, this study in …
Whole-exome sequencing (WES) detected compound heterozygous known and novel BCS1L mutations, which affect the assembly of mitochondri …
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. Oláhová M, et al. Hum Mol Genet. 2019 Nov 15;28(22):3766-3776. doi: 10.1093/hmg/ddz202. Hum Mol Genet. 2019. PMID: 31435670 Free PMC article.
BCS1L encodes a homolog of the Saccharomyces cerevisiae bcs1 protein, which has a known role in the assembly of Complex III of the mitochondrial respiratory chain. ...Together, these data support the pathogenicity of the novel BCS1L variants identified in our patien …
BCS1L encodes a homolog of the Saccharomyces cerevisiae bcs1 protein, which has a known role in the assembly of Complex III of the mi …
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. Jackson CB, et al. Eur J Pediatr. 2016 Apr;175(4):517-25. doi: 10.1007/s00431-015-2661-y. Epub 2015 Nov 13. Eur J Pediatr. 2016. PMID: 26563427 Free article.
The novel missense mutation c.142A>G (p.M48V) in BCS1L is located at a highly conserved region associated with sorting to the mitochondria. ...WHAT IS KNOWN: Mutations in BCS1L cause mitochondrial complex III deficiencies. Phenotypic presentations of defective …
The novel missense mutation c.142A>G (p.M48V) in BCS1L is located at a highly conserved region associated with sorting to the mito …
Pathogenic BCS1L Mutation Resulting in Hypertrophic Cardiomyopathy: A Unique Presentation of Nuclear Mitochondrial Disease.
Incognito C, Hedley J, Posadas KT, Wang X, Desai M. Incognito C, et al. Tex Heart Inst J. 2023 Mar 1;50(2):e217730. doi: 10.14503/THIJ-21-7730. Tex Heart Inst J. 2023. PMID: 37001142 Free PMC article.
A sarcomeric hypertrophic cardiomyopathy gene panel was unremarkable, but mitochondrial gene analysis revealed a homozygous c.385G>A (p.Gly129Arg) pathogenic mutation in the BCS1L gene. This gene is responsible for an assembly subunit of cytochrome complex III in the re …
A sarcomeric hypertrophic cardiomyopathy gene panel was unremarkable, but mitochondrial gene analysis revealed a homozygous c.385G>A (p.G …
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. Tegelberg S, et al. Orphanet J Rare Dis. 2017 Apr 20;12(1):73. doi: 10.1186/s13023-017-0624-2. Orphanet J Rare Dis. 2017. PMID: 28427446 Free PMC article.
These changes were not found in infants suffering from GRACILE syndrome, the most severe BCS1L-related disorder causing early postnatal mortality, but were partially corroborated in a knock-in mouse model of BCS1L deficiency. ...These novel phenotypes forward our un …
These changes were not found in infants suffering from GRACILE syndrome, the most severe BCS1L-related disorder causing early postnat …
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
Falco M, Franzè A, Iossa S, De Falco L, Gambale A, Marciano E, Iolascon A. Falco M, et al. Am J Med Genet A. 2017 May;173(5):1348-1352. doi: 10.1002/ajmg.a.38146. Epub 2017 Mar 21. Am J Med Genet A. 2017. PMID: 28322498
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more severe complex III deficiency and GRACILE syndrome. We report the fi …
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in …
Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation.
Purhonen J, Rajendran J, Mörgelin M, Uusi-Rauva K, Katayama S, Krjutskov K, Einarsdottir E, Velagapudi V, Kere J, Jauhiainen M, Fellman V, Kallijärvi J. Purhonen J, et al. Sci Rep. 2017 Apr 19;7(1):957. doi: 10.1038/s41598-017-01109-4. Sci Rep. 2017. PMID: 28424480 Free PMC article.
We fed KD to mice with respiratory chain complex III (CIII) deficiency and progressive hepatopathy due to mutated BCS1L, a CIII assembly factor. The mutant mice became persistently ketotic and tolerated the KD for up to 11 weeks. ...
We fed KD to mice with respiratory chain complex III (CIII) deficiency and progressive hepatopathy due to mutated BCS1L, a CIII assem …
Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.
Capaci V, Zupin L, Magistrati M, Bonati MT, Celsi F, Marrone I, Baldo F, Ura B, Spedicati B, Morgan A, Bruno I, Zeviani M, Dallabona C, Girotto G, Magnolato A. Capaci V, et al. Int J Mol Sci. 2025 Apr 12;26(8):3670. doi: 10.3390/ijms26083670. Int J Mol Sci. 2025. PMID: 40332224 Free PMC article.
Interestingly, we unveil a new possible mechanism of pathogenicity for BCS1L mutant protein. Since the interaction between BCS1L and CIII is increased, this suggests the formation of a BCS1L-containing nonfunctional preCIII unable to load RISP protein and com …
Interestingly, we unveil a new possible mechanism of pathogenicity for BCS1L mutant protein. Since the interaction between BCS1L …
19 results