Carroll CJ - Search Results

1

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3.

Khan NA, Auranen M, Paetau I, Pirinen E, Euro L, Forsström S, Pasila L, Velagapudi V, Carroll CJ, Auwerx J, Suomalainen A. Khan NA, et al. Among authors: carroll cj. EMBO Mol Med. 2014 Jun;6(6):721-31. doi: 10.1002/emmm.201403943. EMBO Mol Med. 2014. PMID: 24711540 Free PMC article.

2

Ketogenic diet slows down mitochondrial myopathy progression in mice.

Ahola-Erkkilä S, Carroll CJ, Peltola-Mjösund K, Tulkki V, Mattila I, Seppänen-Laakso T, Oresic M, Tyynismaa H, Suomalainen A. Ahola-Erkkilä S, et al. Among authors: carroll cj. Hum Mol Genet. 2010 May 15;19(10):1974-84. doi: 10.1093/hmg/ddq076. Epub 2010 Feb 17. Hum Mol Genet. 2010. PMID: 20167576

3

Mitochondrial myopathy induces a starvation-like response.

Tyynismaa H, Carroll CJ, Raimundo N, Ahola-Erkkilä S, Wenz T, Ruhanen H, Guse K, Hemminki A, Peltola-Mjøsund KE, Tulkki V, Oresic M, Moraes CT, Pietiläinen K, Hovatta I, Suomalainen A. Tyynismaa H, et al. Among authors: carroll cj. Hum Mol Genet. 2010 Oct 15;19(20):3948-58. doi: 10.1093/hmg/ddq310. Epub 2010 Jul 23. Hum Mol Genet. 2010. PMID: 20656789

4

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

Elo JM, Yadavalli SS, Euro L, Isohanni P, Götz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A. Elo JM, et al. Among authors: carroll cj. Hum Mol Genet. 2012 Oct 15;21(20):4521-9. doi: 10.1093/hmg/dds294. Epub 2012 Jul 23. Hum Mol Genet. 2012. PMID: 22833457

5

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.

Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A. Carroll CJ, et al. J Med Genet. 2013 Mar;50(3):151-9. doi: 10.1136/jmedgenet-2012-101375. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315540

6

Next-generation sequencing for mitochondrial disorders.

Carroll CJ, Brilhante V, Suomalainen A. Carroll CJ, et al. Br J Pharmacol. 2014 Apr;171(8):1837-53. doi: 10.1111/bph.12469. Br J Pharmacol. 2014. PMID: 24138576 Free PMC article. Review.

7

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.

Nikkanen J, Forsström S, Euro L, Paetau I, Kohnz RA, Wang L, Chilov D, Viinamäki J, Roivainen A, Marjamäki P, Liljenbäck H, Ahola S, Buzkova J, Terzioglu M, Khan NA, Pirnes-Karhu S, Paetau A, Lönnqvist T, Sajantila A, Isohanni P, Tyynismaa H, Nomura DK, Battersby BJ, Velagapudi V, Carroll CJ, Suomalainen A. Nikkanen J, et al. Among authors: carroll cj. Cell Metab. 2016 Apr 12;23(4):635-48. doi: 10.1016/j.cmet.2016.01.019. Epub 2016 Feb 25. Cell Metab. 2016. PMID: 26924217 Free article.

8

Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.

Vasilescu C, Isohanni P, Palomäki M, Pihko H, Suomalainen A, Carroll CJ. Vasilescu C, et al. Among authors: carroll cj. Eur J Hum Genet. 2017 Feb;25(3):366-370. doi: 10.1038/ejhg.2016.189. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000699 Free PMC article.

9

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.

Matilainen S, Carroll CJ, Richter U, Euro L, Pohjanpelto M, Paetau A, Isohanni P, Suomalainen A. Matilainen S, et al. Among authors: carroll cj. Hum Mol Genet. 2017 Sep 1;26(17):3352-3361. doi: 10.1093/hmg/ddx221. Hum Mol Genet. 2017. PMID: 28645153

10

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A. Isohanni P, et al. Among authors: carroll cj. Neurogenetics. 2018 Jan;19(1):49-53. doi: 10.1007/s10048-018-0537-9. Epub 2018 Jan 19. Neurogenetics. 2018. PMID: 29350304

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