Selected publications
De novo serine biosynthesis is protective in mitochondrial disease.
Jackson CB#, Marmyleva A, Awadhpersad R, Monteuuis G, Mito T, Zamboni N, Tatsuta T, Vincent AE, Wang L, Langer T, Carroll CJ, Suomalainen A#
bioRxiv 2023
Preprint link: https://www.biorxiv.org/content/10.1101/2023.03.23.533952v1.full.pdf
# corresponding authors, *these authors contributed equally
Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation.
Hilander T*, Monteuuis G*, Awadhpersad R*, Broda KL, Pohjanpelto M, Pyman E, Singh SK, Nyman TA, Crevel I, Balboa D, Battersby BJ* , Jackson CB*#, Carroll CJ*#
bioRxiv 2022
Preprint link: https://www.biorxiv.org/content/10.1101/2022.06.15.495910v1.full.pdf
# corresponding authors, *these authors contributed equally
Translation of mt-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis.
Ng KY, Richter U, Jackson CB, Seneca S, Battersby B
Human Molecular Genetics 2021
Preprint link: https://www.biorxiv.org/content/10.1101/2021.08.30.458165v1
High-Resolution Respirometry to assess Bioenergetics in Cells and Tissues using Chamber- and Plate-Based Respirometers.
Awadhpersad R, Jackson CB*
Journal of Visual Experiments 2021
The roles of assembly factors in mammalian mitoribosome biogenesis.
Hilander T, Jackson CB, Robciuc M, Bashir T, Zhao H
Mitochondrion 2021
https://www.sciencedirect.com/science/article/pii/S156772492100101X?via%3Dihub
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
Hytönen MK, Sarviaho R, Jackson CB, Syrjä P, Jokinen T, Matiasek K, Rosati M, Dallabona C, Baruffini E, Quintero I, Arumilli M, Monteuuis G, Donner J, Anttila M, Suomalainen A, Bindoff LA, Lohi H
Human Genetics 2021
https://link.springer.com/article/10.1007%2Fs00439-021-02279-y
Mitochondrial DNA manipulation: a shifting perspective.
Jackson CB, Turnbull DM, Minczuk M, Gammage P
Trends in Molecular Medicine 2020
https://www.sciencedirect.com/science/article/pii/S1471491420300629
3D co-culture of hiPSC-derived cardiomyocytes with cardiac fibroblasts improves tissue-like features of cardiac spheroids.
Beauchamp P, Jackson CB, Ozhathil LC, Agarkova I, Galindo CL, Sawyer DB, Suter TM, Zuppinger C
Frontiers in Mol Biosciences 2020
https://www.frontiersin.org/articles/10.3389/fmolb.2020.00014/full
Fibroblast Growth Factor 21 drives dynamics of local and systemic stress responses in mitochondrial myopathy with mtDNA deletions.
Forsstrom S*, Jackson CB*", Carroll C, Kuronen M, Pirinen E, Auranen M, Kleine IM, Roivanen A, Marjamäki P, Richter U, Velagapudi V, Prahdan SP, Battersby B, Nikkanen J, Euro L, Suomalainen A.
Cell Metab 2019
* these authors contributed equally
" cover art
https://www.cell.com/cell-metabolism/fulltext/S1550-4131(19)30448-6
Cover figure: Murine skeletal muscle fibres: https://www.cell.com/cell-metabolism/issue?pii=S1550-4131(18)X0013-8#
Mitochondrial stress response triggered by defects in protein synthesis quality control.
Richter U, Ng KY, Suomi F, Marttinen P, Turunen T, Jackson CB, Suomalainen A, Vihinen H, Jokitalo E, Nyman TA, Isokallio MA, Stewart JB, Mancini C, Brusco A, Seneca S, Lombès A, Taylor RW, Battersby BJ
Life Sci Alliance 2019
https://www.life-science-alliance.org/content/2/1/e201800219
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement
Jackson CB, Huemer M, Bolognini R, Martin Fm Szinnai G, Donner BC, Richter U, Battersby BJ, Nuoffer JM, Schaller A
Hum Mol Genet 2018
https://academic.oup.com/hmg/article-abstract/28/4/639/5144443
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production.
Amini P*, Stojkov D*, Felser A, Jackson CB, Courage C, Schaller A, Gelman L, Soriano ME, Nuoffer JM, Scorrano L, Benarafa C, Yousefi S, Simon HU
Nat Commun 2018
https://www.nature.com/articles/s41467-018-05387-y
mTORC1 regulates mitochondrial folate cycle and the integrated stress response in mitochondrial disease.
Khan NA, Nikkanen J, Yatsuga S, Jackson CB, Wang L, Kivelä R, Ballabio A, Velagapudi V, Suomalainen A
Cell Metab 2017
https://www.cell.com/cell-metabolism/fulltext/S1550-4131(17)30428-X
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
Jackson CB, Hahn D, Schröter B, Richter U, Battersby B, Steiner B, Gallati S, Nuoffer JM, Schaller A
Eur J Med Genet 2017
https://www.sciencedirect.com/science/article/abs/pii/S1769721216303974
Heterozygous SDHA mutation resulting in complex II deficiency with ocular, cardiac and neurologic involvement.
Courage C*, Jackson CB*, Euro L, Hahn D, Gallati S, Nuoffer JM, Schaller A
AJMG 2016
* these authors contributed equally
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.37986
Near-complete mtDNA heteroplasmy shifts by iterative or dynamic dose-controlled treatment with mtZFNs.
Gammage PA, Gaude E, Van Haute L, Jackson CB, Rorbach J, Pekalski ML, Concordet JP, Frezza C, Minczuk M
Nucleic Acids Research 2016
https://academic.oup.com/nar/article/44/16/7804/2460548
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
Jackson CB*, Bauer MF, Schaller A, Kotzaeridou U, Ferranini A, Hahn D, Gerstner T, Ebinger F, Ballhausen D, Chehade H, Gallati S, Haeberli A, Bonafé L, Nuoffer JM
Eur J of Pediatrics 2015
*Corresponding author
https://link.springer.com/article/10.1007%2Fs00431-015-2661-y
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Haack TB, Jackson CB, Murayama K, Kremer L, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Freisinger P, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Bolognini R, Eggimann S, Hahn D, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Schaller A, Hoffmann GF, Mayr JA, Meitinger T, Schuelke M, Nuoffer JM, Kölker JS, Prokisch H, Klopstock T
Ann Clin Trans Neurol 2015
https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.189
Heterologous expression from the human D-Loop in organello.
Jackson CB, Zbinden C, Gallati S, Schaller A.
Mitochondrion 2014
https://www.sciencedirect.com/science/article/abs/pii/S1567724914000853?via%3Dihub
Novel mitochondrial tRNAIle m.4282G>A gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.
Jackson CB, Neuwirth C, Hahn D, Nuoffer J-M, Frank S, Gallati S, Schaller A.
British J of Ophthalmology 2014
https://bjo.bmj.com/content/98/10/1453.long
Trypanosomal TAC40 constitutes a novel subclass of mitochondrial β-barrel proteins specialized in mitochondrial genome inheritance.
Schnarwiler F, Niemann M, Doiron N, Harsman A, Käser S, Mani J, Chanfon A, Dewar CE, Oeljeklaus S, Jackson CB" , Pusnik M, Schmidt O, Meisinger C, Hiller S, Warscheid B, Schnaufer AC, Ochsenreiter T, Schneider A.
PNAS 2014
https://www.pnas.org/content/111/21/7624.long
" cover art: Trypanosomas and red blood cells
Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation.
Schild C, Hahn D, Schaller A, Jackson CB, Rothen-Rutishauser B, Mirkovitch J, Nuoffer JM.
Amino Acids 2014
https://link.springer.com/article/10.1007%2Fs00726-014-1730-2
Mutations in SDHD leading to autosomal recessive encephalomyopathy and isolated complex II deficiency.
Jackson CB, Nuoffer J-M, Hahn D, Gautschi M, Prokisch H, Haberberger B, Gallati S, Schaller A.
J Med Genet 2014
https://jmg.bmj.com/content/51/3/170.long
Mitochondrial outer membrane proteome of Trypanosoma brucei reveals novel factors required to maintain mitochondrial morphology.
Niemann M, Wiese S, Mani J, Chanfon A, Jackson CB, Meisinger C, Warscheid B, Schneider A.
Mol Cell Proteomics 2012
https://www.mcponline.org/content/12/2/515.long
Accurate qPCR-based mitochondrial DNA quantification: Influence of template DNA fragmentation.
Jackson CB, Gallati S, Schaller A.
BBRC 2012
https://www.sciencedirect.com/science/article/pii/S0006291X12010200?via%3Dihub
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.
Schaller A, Desetty R, Hahn D, Jackson CB, Nuoffer JM, Gallati S, Levinger L.
Mitochondrion 2011
https://www.sciencedirect.com/science/article/abs/pii/S1567724911000262?via%3Dihub
Biochemical and molecular investigations of a novel splice-site mutation in POLG1.
Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM.
BMC Neurology 2011
https://bmcneurol.biomedcentral.com/articles/10.1186/1471-2377-11-4
Complete list: