| BCS1L mutations produce Fanconi syndrome with developmental disability. | 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. | 04/9/2022 |
| Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. | Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S., Free PMC Article | 03/5/2022 |
| Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster. | 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., Free PMC Article | 02/19/2022 |
| Data support the pathogenicity of the novel BCS1L variants identified in our patients. | 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., Free PMC Article | 06/20/2020 |
| We propose a change in nomenclature that unifies the intermediate phenotype under "BCS1L Mitopathies". Patterns in genotype-phenotype correlations within these BCS1L Mitopathies are evident in the context of the tertiary and quaternary structure of BCS1L. | Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
Baker RA, Priestley JRC, Wilstermann AM, Reese KJ, Mark PR. | 04/18/2020 |
| The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation. | A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.
Akduman H, Eminoglu T, Okulu E, Erdeve O, Atasay B, Arsan S. | 10/20/2018 |
| We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L | 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. | 05/13/2017 |
| * Description of a novel homozygous mutation in BCS1L with transient neonatal acidosis and persistent de Toni-Debre-Fanconi-type tubulopathy. * The long survival of patients with phenotypic presentation of severe complex III deficiency is uncommon. | 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. | 12/24/2016 |
| Extensive statistical and cluster analyses revealed a protein profile characteristic for the BCS1L mutant fibroblasts that included alterations in energy metabolism, cell signaling and gene expression regulation, cytoskeleton formation and maintenance. | Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.
Marín-Buera L, García-Bartolomé A, Morán M, López-Bernardo E, Cadenas S, Hidalgo B, Sánchez R, Seneca S, Arenas J, Martín MA, Ugalde C., Free PMC Article | 08/8/2015 |
| Exome sequencing revealed novel BCS1L mutations in two siblings with Bjornstad syndrome characterized by hearing loss and hypotrichosis. | Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
Zhang J, Duo L, Lin Z, Wang H, Yin J, Cao X, Zhao J, Dai L, Liu X, Zhang J, Yang Y, Tang Z. | 08/1/2015 |
| A novel behavioral and psychiatric phenotype associated with a p.Gly129Arg BCS1L mutation. | 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. | 05/24/2014 |
| This region encompasses the BCS1L gene. | Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
Siddiqi S, Siddiq S, Mansoor A, Oostrik J, Ahmad N, Kazmi SA, Kremer H, Qamar R, Schraders M. | 05/24/2014 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| These results provide new insights into the role of pathogenic BCS1L mutations in mitochondrial function and dynamics. | 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. | 10/23/2010 |
| mitochondrial complex III deficiency caused by mutations in the BCS1L gene | Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
Ramos-Arroyo MA, Hualde J, Ayechu A, De Meirleir L, Seneca S, Nadal N, Briones P. | 01/21/2010 |
| The g.1181A>G mutation generated an alternative splicing site in the BCS1L transcript, causing a 19-nucleotides deletion in its 5'UTR region and Complex III deficiency. | 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. | 01/21/2010 |
| The severity of the complex III enzyme defect correlated with decreased amounts of BCS1L and respiratory chain complex III. This supports a pathogenic role for the novel BCS1L mutation in a patient with a singular clinical phenotype. | 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. | 01/21/2010 |
| BCS1L stimulates the assembly of the LETM1 complex. BCS1L knockdown caused disassembly of the respiratory chains as well as LETM1 downregulation and induced distinct changes in mitochondrial morphology. | Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
Tamai S, Iida H, Yokota S, Sayano T, Kiguchiya S, Ishihara N, Hayashi J, Mihara K, Oka T. | 01/21/2010 |
| assessed whether 232A-->G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder | Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.
Fellman V, Lemmelä S, Sajantila A, Pihko H, Järvelä I. | 01/21/2010 |
| a function of BCS1L is to promote the maturation of complex III and the incorporation of the Rieske iron-sulfur protein into the nascent complex. Defective BCS1L leads to the formation of a catalytically inactive, structurally unstable complex III. | 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. | 01/21/2010 |
| GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L | 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., Free PMC Article | 01/21/2010 |