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Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN. Crosby AH, et al. Among authors: lightowlers rn. Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21. Am J Hum Genet. 2010. PMID: 20970105 Free PMC article.
The mRNA-binding protein COLBP is glutamate dehydrogenase.
Preiss T, Sang AE, Chrzanowska-Lightowlers ZM, Lightowlers RN. Preiss T, et al. Among authors: lightowlers rn. FEBS Lett. 1995 Jul 3;367(3):291-6. doi: 10.1016/0014-5793(95)00569-u. FEBS Lett. 1995. PMID: 7607326 Free article.
Glutamate dehydrogenase: an organelle-specific mRNA-binding protein.
Preiss T, Chrzanowska-Lightowlers ZM, Lightowlers RN. Preiss T, et al. Among authors: lightowlers rn. Trends Biochem Sci. 1997 Aug;22(8):290. doi: 10.1016/s0968-0004(97)82219-0. Trends Biochem Sci. 1997. PMID: 9270300 No abstract available.
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. Clark KM, et al. Among authors: lightowlers rn. Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361. Am J Hum Genet. 1999. PMID: 10205264 Free PMC article.
194 results