Page 155 - Read Online
P. 155
Page 306 Balasubramaniam et al. J Transl Genet Genom 2020;4:285-306 I http://dx.doi.org/10.20517/jtgg.2020.34
149. Kožich V, Ditrói T, Sokolová J, Křížková M, Krijt J, et al. Metabolism of sulfur compounds in homocystinurias. Br J Pharmacol
2019:176;594-606.
150. Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, et al. Combined treatment with oral metronidazole and N-ace-tylcysteine is
effective in ethylmalonic encephalopathy. Nat Med 2010;16:869-71.
151. Di Meo I, Lamperti C, Tiranti V. Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic
approaches. EMBO Mol Med 2015;7:1257-66.
152. Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, et al. Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy:
response to riboflavin. J Inherit Metab Dis 2001;24:870-3.
153. Susin SA, Lorenzo HK, Zamzami N, Marzo I, Snow BE, et al. Molecular characterization of mitochondrial apoptosis-inducing factor.
Nature 1999;397:441e6.
154. Joza N, Pospisilik JA, Hangen, E, Hanada T, Modjtahedi N, et al. AIF: not just an apoptosis-inducing factor. Ann NY Acad Sci
2009;1171:2-11.
155. Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, et al. Severe X-linked mitochondrial encephalomyopathy associated with a
mutation in apoptosis-inducing factor. Am J Hum Genet 2010;86:639-49.
156. Berger I, Ben-Neriah Z, Dor-Wolman T, Shaag A, Saada A, et al. Early prenatal ventriculomegaly due to an aifm1 mutation identified by
linkage analysis and whole exome sequencing. Mol Genet Metab 2011;104:517-20.
157. Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, et al. Cowchock syndrome is associated with a mutation in
apoptosis-inducing factor. Am J Hum Genet 2012;91:1095-102.
158. Zong L, Guan J, EalyM, Zhang Q, Wang D, et al. Mutations in apoptosis-inducing factor cause x-linked recessive auditory neuropathy
spectrum disorder. J Med Genet 2015;52:523-31.
159. Mierzewska H, Rydzanicz M, Bieganski T, Kosinska J, Mierzewska-Schmidt M, et al. Spondyloepimetaphyseal dysplasia with
neurodegeneration associated with aifm1 mutation - a novel phenotype of the mitochondrial disease. Clin Genet 2017;91:30-7.
160. Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, et al. Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially
responsive to riboflavin. Eur J Paediatr Neurol 2018;22:93-101.