Jackson CB - Search Results

1

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.

Jackson CB, Hahn D, Schröter B, Richter U, Battersby BJ, Schmitt-Mechelke T, Marttinen P, Nuoffer JM, Schaller A. Jackson CB, et al. Eur J Med Genet. 2017 Jun;60(6):345-351. doi: 10.1016/j.ejmg.2017.04.006. Epub 2017 Apr 13. Eur J Med Genet. 2017. PMID: 28412374

2

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Häberli A, Gallati S, Schaller A. Jackson CB, et al. J Med Genet. 2014 Mar;51(3):170-5. doi: 10.1136/jmedgenet-2013-101932. Epub 2013 Dec 23. J Med Genet. 2014. PMID: 24367056

3

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM. Schaller A, et al. Among authors: jackson cb. BMC Neurol. 2011 Jan 14;11:4. doi: 10.1186/1471-2377-11-4. BMC Neurol. 2011. PMID: 21235791 Free PMC article.

4

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

Courage C, Jackson CB, Hahn D, Euro L, Nuoffer JM, Gallati S, Schaller A. Courage C, et al. Among authors: jackson cb. Am J Med Genet A. 2017 Jan;173(1):225-230. doi: 10.1002/ajmg.a.37986. Epub 2016 Sep 28. Am J Med Genet A. 2017. PMID: 27683074

5

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 BJ. Ng KY, et al. Among authors: jackson cb. Hum Mol Genet. 2022 Apr 22;31(8):1230-1241. doi: 10.1093/hmg/ddab314. Hum Mol Genet. 2022. PMID: 34718584 Free PMC article.

6

Mitochondrial stress response triggered by defects in protein synthesis quality control.

Richter U, Ng KY, Suomi F, Marttinen P, Turunen T, Jackson C, Suomalainen A, Vihinen H, Jokitalo E, Nyman TA, Isokallio MA, Stewart JB, Mancini C, Brusco A, Seneca S, Lombès A, Taylor RW, Battersby BJ. Richter U, et al. Life Sci Alliance. 2019 Jan 25;2(1):e201800219. doi: 10.26508/lsa.201800219. Print 2019 Feb. Life Sci Alliance. 2019. PMID: 30683687 Free PMC article.

7

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. Schaller A, et al. Among authors: jackson cb. Mitochondrion. 2011 May;11(3):488-96. doi: 10.1016/j.mito.2011.01.005. Epub 2011 Feb 1. Mitochondrion. 2011. PMID: 21292040 Free PMC article.

8

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.

9

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 F, Szinnai G, Donner BC, Richter U, Battersby BJ, Nuoffer JM, Suomalainen A, Schaller A. Jackson CB, et al. Hum Mol Genet. 2019 Feb 15;28(4):639-649. doi: 10.1093/hmg/ddy374. Hum Mol Genet. 2019. PMID: 30358850 Free article.

10

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. Schild C, et al. Among authors: jackson cb. Amino Acids. 2014 Jul;46(7):1775-83. doi: 10.1007/s00726-014-1730-2. Epub 2014 Apr 8. Amino Acids. 2014. PMID: 24710704 Free article.

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