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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: schaller a. Hum Mol Genet. 2019 Feb 15;28(4):639-649. doi: 10.1093/hmg/ddy374. Hum Mol Genet. 2019. PMID: 30358850 Free article.
Heterologous expression from the human D-Loop in organello.
Jackson CB, Zbinden C, Gallati S, Schaller A. Jackson CB, et al. Among authors: schaller a. Mitochondrion. 2014 Jul;17:67-75. doi: 10.1016/j.mito.2014.05.011. Epub 2014 Jun 6. Mitochondrion. 2014. PMID: 24911383
Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency.
Laemmle A, Steck AL, Schaller A, Kurth S, Perret Hoigné E, Felser AD, Slavova N, Salvisberg C, Atencio M, Mochel F, Nuoffer JM, Gautschi M. Laemmle A, et al. Among authors: schaller a. Mol Genet Metab Rep. 2021 Oct 19;29:100814. doi: 10.1016/j.ymgmr.2021.100814. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34712577 Free PMC article.
382 results