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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. Among authors: richter u. 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
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. Among authors: richter u. Hum Mol Genet. 2019 Feb 15;28(4):639-649. doi: 10.1093/hmg/ddy374. Hum Mol Genet. 2019. PMID: 30358850 Free article.
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.
Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions.
Forsström S, Jackson CB, Carroll CJ, Kuronen M, Pirinen E, Pradhan S, Marmyleva A, Auranen M, Kleine IM, Khan NA, Roivainen A, Marjamäki P, Liljenbäck H, Wang L, Battersby BJ, Richter U, Velagapudi V, Nikkanen J, Euro L, Suomalainen A. Forsström S, et al. Among authors: richter u. Cell Metab. 2019 Dec 3;30(6):1040-1054.e7. doi: 10.1016/j.cmet.2019.08.019. Epub 2019 Sep 12. Cell Metab. 2019. PMID: 31523008 Free article.
A mitochondrial ribosomal and RNA decay pathway blocks cell proliferation.
Richter U, Lahtinen T, Marttinen P, Myöhänen M, Greco D, Cannino G, Jacobs HT, Lietzén N, Nyman TA, Battersby BJ. Richter U, et al. Curr Biol. 2013 Mar 18;23(6):535-41. doi: 10.1016/j.cub.2013.02.019. Epub 2013 Feb 28. Curr Biol. 2013. PMID: 23453957 Free article.
168 results