Publications:

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Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria.

Nature Communications

Purhonen, Janne J; Banerjee, Rishi R; Wanne, Vilma V; Sipari, Nina N; Mörgelin, Matthias M; Fellman, Vineta V; Kallijärvi, Jukka J

Publication Date: 2023-04-24

Variant appearance in text: BCS1L: S78G

PubMed Link: 37095097

Variant Present in the following documents:

• Main text
• 41467_2023_38027_MOESM2_ESM.pdf
• 41467_2023_Article_38027.pdf

View BVdb publication page

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: BCS1L: 232A>G; Ser78Gly

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Iron status influences mitochondrial disease progression in Complex I-deficient mice.

Elife

Kelly, C J CJ; Couch, Reid K RK; Ha, Vivian T VT; Bodart, Camille M CM; Wu, Judy J; Huff, Sydney S; Herrel, Nicole T NT; Kim, Hyunsung D HD; Zimmermann, Azaad O AO; Shattuck, Jessica J; Pan, Yu-Chen YC; Kaeberlein, Matt M; Grillo, Anthony S AS

Publication Date: 2023-02-17

Variant appearance in text: BCS1L: S78G

PubMed Link: 36799301

Variant Present in the following documents:

• Main text
• elife-75825.pdf

View BVdb publication page

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The Finnish genetic heritage in 2022 - from diagnosis to translational research.

Disease Models & Mechanisms

Uusimaa, Johanna J; Kettunen, Johannes J; Varilo, Teppo T; Järvelä, Irma I; Kallijärvi, Jukka J; Kääriäinen, Helena H; Laine, Minna M; Lapatto, Risto R; Myllynen, Päivi P; Niinikoski, Harri H; Rahikkala, Elisa E; Suomalainen, Anu A; Tikkanen, Ritva R; Tyynismaa, Henna H; Vieira, Päivi P; Zarybnicky, Tomas T; Sipilä, Petra P; Kuure, Satu S; Hinttala, Reetta R

Publication Date: 2022-10-01

Variant appearance in text: BCS1L: 232A>G; Ser78Gly

PubMed Link: 36285626

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Frontiers In Molecular Neuroscience

Wang, Liang L; Yang, Ziyun Z; He, Xiumei X; Pu, Shiming S; Yang, Cheng C; Wu, Qiong Q; Zhou, Zuping Z; Cen, Xiaobo X; Zhao, Hongxia H

Publication Date: 2022

Variant appearance in text: BCS1L: Ser78Gly

PubMed Link: 36157077

Variant Present in the following documents:

• Main text
• fnmol-15-974480.pdf

View BVdb publication page

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Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.

Prenatal Diagnosis

Rajala, Katri K; Kasanen, Ellamaija E; Toiviainen-Salo, Sanna S; Valta, Helena H; Mäkitie, Outi O; Stefanovic, Vedran V; Tanner, Laura L

Publication Date: 2022-11

Variant appearance in text: BCS1L: Ser78Gly

PubMed Link: 35611473

Variant Present in the following documents:

• PD-42-1525.pdf

View BVdb publication page

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Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.

Bmc Medical Genomics

Al Qurashi, Mansour M; Mustafa, Ahmed A; Aga, Syed Sameer SS; Ahmad, Abrar A; El-Farra, Abdellatif A; Shawli, Aiman A; Al Hindi, Mohammed M; Hasosah, Mohammed M

Publication Date: 2022-03-19

Variant appearance in text: BCS1L: 232A>G; S78G

PubMed Link: 35305621

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1210.pdf

View BVdb publication page

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Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.

Cells

Zárybnický, Tomáš T; Heikkinen, Anne A; Kangas, Salla M SM; Karikoski, Marika M; Martínez-Nieto, Guillermo Antonio GA; Salo, Miia H MH; Uusimaa, Johanna J; Vuolteenaho, Reetta R; Hinttala, Reetta R; Sipilä, Petra P; Kuure, Satu S

Publication Date: 2021-11-13

Variant appearance in text: BCS1L: 232A>G; S78G

PubMed Link: 34831381

Variant Present in the following documents:

• Main text
• cells-10-03158.pdf

View BVdb publication page

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Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.

Annals Of Clinical And Translational Neurology

Hikmat, Omar O; Isohanni, Pirjo P; Keshavan, Nandaki N; Ferla, Matteo P MP; Fassone, Elisa E; Abbott, Mary-Alice MA; Bellusci, Marcello M; Darin, Niklas N; Dimmock, David D; Ghezzi, Daniele D; Houlden, Henry H; Invernizzi, Federica F; Kamarus Jaman, Nazreen B NB; Kurian, Manju A MA; Morava, Eva E; Naess, Karin K; Ortigoza-Escobar, Juan Darío JD; Parikh, Sumit S; Pennisi, Alessandra A; Barcia, Giulia G; Tylleskär, Karin B KB; Brackman, Damien D; Wortmann, Saskia B SB; Taylor, Jenny C JC; Bindoff, Laurence A LA; Fellman, Vineta V; Rahman, Shamima S

Publication Date: 2021-11

Variant appearance in text: BCS1L: 232A>G; Ser78Gly

PubMed Link: 34662929

Variant Present in the following documents:

• Main text
• ACN3-8-2155.pdf

View BVdb publication page

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Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.

Journal Of Molecular Medicine (Berlin, Germany)

Brischigliaro, Michele M; Frigo, Elena E; Corrà, Samantha S; De Pittà, Cristiano C; Szabò, Ildikò I; Zeviani, Massimo M; Costa, Rodolfo R

Publication Date: 2021-10

Variant appearance in text: BCS1L: Ser78Gly

PubMed Link: 34274978

Variant Present in the following documents:

• Main text
• 109_2021_Article_2110.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: BCS1L: 232A>G; Ser78Gly; rs28937590

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction.

Nature Communications

Peruzzo, Roberta R; Corrà, Samantha S; Costa, Roberto R; Brischigliaro, Michele M; Varanita, Tatiana T; Biasutto, Lucia L; Rampazzo, Chiara C; Ghezzi, Daniele D; Leanza, Luigi L; Zoratti, Mario M; Zeviani, Massimo M; De Pittà, Cristiano C; Viscomi, Carlo C; Costa, Rodolfo R; Szabò, Ildikò I

Publication Date: 2021-04-08

Variant appearance in text: BCS1L: 232A>G

PubMed Link: 33833234

Variant Present in the following documents:

• 41467_2021_Article_22062.pdf

View BVdb publication page

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Insights into the Roles of the Sideroflexins/SLC56 Family in Iron Homeostasis and Iron-Sulfur Biogenesis.

Biomedicines

Tifoun, Nesrine N; De Las Heras, José M JM; Guillaume, Arnaud A; Bouleau, Sylvina S; Mignotte, Bernard B; Le Floch, Nathalie N

Publication Date: 2021-01-21

Variant appearance in text: BCS1L: S78G

PubMed Link: 33494450

Variant Present in the following documents:

• Main text
• biomedicines-09-00103.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: BCS1L: 232A>G; Ser78Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Genetic background of ataxia in children younger than 5 years in Finland.

Neurology. Genetics

Ignatius, Erika E; Isohanni, Pirjo P; Pohjanpelto, Max M; Lahermo, Päivi P; Ojanen, Simo S; Brilhante, Virginia V; Palin, Eino E; Suomalainen, Anu A; Lönnqvist, Tuula T; Carroll, Christopher J CJ

Publication Date: 2020-08

Variant appearance in text: BCS1L: 232A>G; Ser78Gly

PubMed Link: 32637629

Variant Present in the following documents:

• NG2019012807.pdf

View BVdb publication page

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Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome).

Jimd Reports

Della Marina, Adela A; Leiendecker, Baerbel B; Roesch, Sebastian S; Wortmann, Saskia B SB

Publication Date: 2020-05

Variant appearance in text: BCS1L: 232A>G; Ser78Gly

PubMed Link: 32395403

Variant Present in the following documents:

• Main text
• JMD2-53-10.pdf

View BVdb publication page

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Human-induced pluripotent stem cells for modelling metabolic perturbations and impaired bioenergetics underlying cardiomyopathies.

Cardiovascular Research

Ramachandra, Chrishan J A CJA; Chua, Jasper J; Cong, Shuo S; Kp, Myu Mai Ja MMJ; Shim, Winston W; Wu, Joseph C JC; Hausenloy, Derek J DJ

Publication Date: 2021-02-22

Variant appearance in text: BCS1L: S78G

PubMed Link: 32365198

Variant Present in the following documents:

• Main text

View BVdb publication page

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A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice.

Nature Communications

Purhonen, Janne J; Grigorjev, Vladislav V; Ekiert, Robert R; Aho, Noora N; Rajendran, Jayasimman J; Pietras, Rafał R; Truvé, Katarina K; Wikström, Mårten M; Sharma, Vivek V; Osyczka, Artur A; Fellman, Vineta V; Kallijärvi, Jukka J

Publication Date: 2020-01-16

Variant appearance in text: BCS1L: S78G

PubMed Link: 31949167

Variant Present in the following documents:

• Main text
• 41467_2019_14201_MOESM2_ESM.pdf
• 41467_2019_14201_MOESM4_ESM.xlsx, sheet 3
• 41467_2019_14201_MOESM1_ESM.pdf
• 41467_2019_Article_14201.pdf

View BVdb publication page

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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics

Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P

Publication Date: 2019

Variant appearance in text: BCS1L: 232A>G; Ser78Gly

PubMed Link: 31832098

Variant Present in the following documents:

• 13039_2019_459_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: BCS1L: S78G; rs28937590

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy.

Embo Molecular Medicine

Rajendran, Jayasimman J; Purhonen, Janne J; Tegelberg, Saara S; Smolander, Olli-Pekka OP; Mörgelin, Matthias M; Rozman, Jan J; Gailus-Durner, Valerie V; Fuchs, Helmut H; Hrabe de Angelis, Martin M; Auvinen, Petri P; Mervaala, Eero E; Jacobs, Howard T HT; Szibor, Marten M; Fellman, Vineta V; Kallijärvi, Jukka J

Publication Date: 2019-01

Variant appearance in text: BCS: S78G

PubMed Link: 30530468

Variant Present in the following documents:

• Main text
• EMMM-11-e9456.pdf

View BVdb publication page

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Human diseases associated with defects in assembly of OXPHOS complexes.

Essays In Biochemistry

Ghezzi, Daniele D; Zeviani, Massimo M

Publication Date: 2018-07-20

Variant appearance in text: BCS1L: S78G

PubMed Link: 30030362

Variant Present in the following documents:

• Main text
• ebc-62-ebc20170099.pdf

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: BCS1L: 232A>G; Ser78Gly; rs28937590

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BCS1L: 232A>G; Ser78Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

Orphanet Journal Of Rare Diseases

Tegelberg, Saara S; Tomašić, Nikica N; Kallijärvi, Jukka J; Purhonen, Janne J; Elmér, Eskil E; Lindberg, Eva E; Nord, David Gisselsson DG; Soller, Maria M; Lesko, Nicole N; Wedell, Anna A; Bruhn, Helene H; Freyer, Christoph C; Stranneheim, Henrik H; Wibom, Rolf R; Nennesmo, Inger I; Wredenberg, Anna A; Eklund, Erik A EA; Fellman, Vineta V

Publication Date: 2017-04-20

Variant appearance in text: BCS1L: 232A>G; Ser78Gly

PubMed Link: 28427446

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation.

Scientific Reports

Purhonen, Janne J; Rajendran, Jayasimman J; Mörgelin, Matthias M; Uusi-Rauva, Kristiina K; Katayama, Shintaro S; Krjutskov, Kaarel K; Einarsdottir, Elisabet E; Velagapudi, Vidya V; Kere, Juha J; Jauhiainen, Matti M; Fellman, Vineta V; Kallijärvi, Jukka J

Publication Date: 2017-04-19

Variant appearance in text: BCS1L: 232A>G; S78G

PubMed Link: 28424480

Variant Present in the following documents:

• Main text

View BVdb publication page

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COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation.

Plos One

Davoudi, Mina M; Kotarsky, Heike H; Hansson, Eva E; Kallijärvi, Jukka J; Fellman, Vineta V

Publication Date: 2016

Variant appearance in text: BCS1L: 232A>G; S78G

PubMed Link: 27997587

Variant Present in the following documents:

• pone.0168774.pdf

View BVdb publication page

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Effect of High-Carbohydrate Diet on Plasma Metabolome in Mice with Mitochondrial Respiratory Chain Complex III Deficiency.

International Journal Of Molecular Sciences

Rajendran, Jayasimman J; Tomašić, Nikica N; Kotarsky, Heike H; Hansson, Eva E; Velagapudi, Vidya V; Kallijärvi, Jukka J; Fellman, Vineta V

Publication Date: 2016-11-01

Variant appearance in text: BCS1L: 232A>G; S78G

PubMed Link: 27809283

Variant Present in the following documents:

• Main text
• ijms-17-01824.pdf

View BVdb publication page

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Mitochondrial dysfunction in inherited renal disease and acute kidney injury.

Nature Reviews. Nephrology

Emma, Francesco F; Montini, Giovanni G; Parikh, Samir M SM; Salviati, Leonardo L

Publication Date: 2016-05

Variant appearance in text: BCS1L: Ser78Gly

PubMed Link: 26804019

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28937590

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BCS1L: S78G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

Frontiers In Genetics

Fernández-Vizarra, Erika E; Zeviani, Massimo M

Publication Date: 2015

Variant appearance in text: BCS1L: Ser78Gly

PubMed Link: 25914718

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: BCS1L: S78G; rs28937590

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.

Journal Of Proteomics

Marín-Buera, Lorena L; García-Bartolomé, Alberto A; Morán, María M; López-Bernardo, Elia E; Cadenas, Susana S; Hidalgo, Beatriz B; Sánchez, Ricardo R; Seneca, Sara S; Arenas, Joaquín J; Martín, Miguel A MA; Ugalde, Cristina C

Publication Date: 2015-01-15

Variant appearance in text: BCS1L: Ser78Gly

PubMed Link: 25239759

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Plos One

Davoudi, Mina M; Kotarsky, Heike H; Hansson, Eva E; Fellman, Vineta V

Publication Date: 2014

Variant appearance in text: BCS1L: 232A>G

PubMed Link: 24466228

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Plos One

Kotarsky, Heike H; Keller, Matthias M; Davoudi, Mina M; Levéen, Per P; Karikoski, Riitta R; Enot, David P DP; Fellman, Vineta V

Publication Date: 2012

Variant appearance in text: BCS1L: 232A>G; S78G

PubMed Link: 22829922

Variant Present in the following documents:

• Main text
• pone.0041156.pdf

View BVdb publication page

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Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

Seminars In Fetal & Neonatal Medicine

Diaz, Francisca F; Kotarsky, Heike H; Fellman, Vineta V; Moraes, Carlos T CT

Publication Date: 2011-08

Variant appearance in text: BCS1L: S78G

PubMed Link: 21680271

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: BCS1L: S78G; rs28937590

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

View BVdb publication page

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