Page 29 - Read Online
P. 29

Franz et al. J Transl Genet Genom 2020;4:50-70  I  https://doi.org/10.20517/jtgg.2020.13                                                 Page 67

               110.  Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, et al. A homozygous truncating mutation in PUS3 expands the role of tRNA
                   modification in normal cognition. Hum Genet 2016;135:707-13.
               111.  Shaheen R, Tasak M, Maddirevula S, Abdel-Salam GMH, Sayed ISM, et al. PUS7 mutations impair pseudouridylation in humans and
                   cause intellectual disability and microcephaly. Hum Genet 2019;138:231-9.
               112.  Becker HF, Motorin Y, Planta RJ, Grosjean H. The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the
                   formation of psi55 in both mitochondrial and cytoplasmic tRNAs. Nucleic Acids Res 1997;25:4493-9.
               113.  Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N. Missense mutation in pseudouridine synthase 1 (PUS1) causes
                   mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 2004;74:1303-8.
               114.  Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two
                   brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet 2007;44:173-80.
               115.  Massenet S, Motorin Y, Lafontaine DL, Hurt EC, Grosjean H, et al. Pseudouridine mapping in the Saccharomyces cerevisiae spliceosomal
                   U small nuclear RNAs (snRNAs) reveals that pseudouridine synthase pus1p exhibits a dual substrate specificity for U2 snRNA and
                   tRNA. Mol Cell Biol 1999;19:2142-54.
               116.  Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N. Mitochondrial myopathy and sideroblastic anemia (MLASA):
                   missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. J Biol Chem
                   2005;280:19823-8.
               117.  Zeharia A, Fischel-Ghodsian N, Casas K, Bykhocskaya Y, Tamari H, et al. Mitochondrial myopathy, sideroblastic anemia, and lactic
                   acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. J Child Neurol 2005;20:449-52.
               118.  Brouwer APM, Abou Jamra R, Kortel N, Soyris C, Polla DL, et al. Variants in PUS7 cause intellectual disability with speech delay,
                   microcephaly, short stature, and aggressive behavior. Am J Hum Genet 2018;103:1045-52.
               119.  Darvish H, Azcona LJ, Alehabib E, Jamali F, Tafakhori A, et al. A novel PUS7 mutation causes intellectual disability with autistic and
                   aggressive behaviors. Neurol Genet 2019;5:e356.
               120. Aza-Blanc P, Cooper CL, Wagner K, Batalov S, Deveraux QL, et al. Identification of modulators of TRAIL-induced apoptosis via RNAi-
                   based phenotypic screening. Mol Cell 2003;12:627-37.
               121. McCleverty CJ, Hornsby M, Spraggon G, Kreusch A. Crystal structure of human Pus10, a novel pseudouridine synthase. J Mol Biol
                   2007;373:1243-54.
               122. Nakayama T, Wu J, Galvin-Parton P, Weiss J, Andriola MR, et al. Deficient activity of alanyl-tRNA synthetase underlies an autosomal
                   recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Hum Mutat 2017;38:1348-54.
               123. Simons C, Griffin LB, Helman G, Golas G, Pizzino A, et al. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-
                   recessive early-onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet 2015;96:675-81.
               124. Nafisinia M, Sobreira N, Riley L, Gold W, Uhlenberg B, et al. Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-
                   Merzbacher disease. Eur J Hum Genet 2017;25:1134-41.
               125. Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, et al. Mutations in RARS cause hypomyelination. Ann Neurol
                   2014;76:134-9.
               126. Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, et al. Mutations in DARS cause hypomyelination with brain stem and spinal
                   cord involvement and leg spasticity. Am J Hum Genet 2013;92:774-80.
               127. Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, et al. Identification of a mutation in LARS as a novel cause of
                   infantile hepatopathy. Mol Genet Metab 2012;106:351-8.
               128. Casey JP, Slattery S, Cotter M, Monavari AA, Knerr I, et al. Clinical and genetic characterisation of infantile liver failure syndrome type
                   1, due to recessive mutations in LARS. J Inherit Metab Dis 2015;38:1085-92.
               129. Lo WS, Gardiner E, Xu Z, Lau CF, Wang F, et al. Human tRNA synthetase catalytic nulls with diverse functions. Science 2014;345:328-
                   32.
               130. Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, et al. Biallelic mutations of methionyl-tRNA synthetase cause a
                   specific type of pulmonary alveolar proteinosis prevalent on reunion island. Am J Hum Genet 2015;96:826-31.
               131. Sun Y, Hu G, Luo J, Fang D, Yu Y, et al. Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver
                   disease, postnatal growth failure and anemia. J Hum Genet 2017;62:647-51.
               132. van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, et al. Rare recessive loss-of-function methionyl-tRNA synthetase mutations
                   presenting as a multi-organ phenotype. BMC Med Genet 2013;14:106.
               133. Nowaczyk MJ, Huang L, Tarnopolsky M, Schwartzentruber J, Majewski J, et al. A novel multisystem disease associated with recessive
                   mutations in the tyrosyl-tRNA synthetase (YARS) gene. Am J Med Genet A 2017;173:126-34.
               134. Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, et al. Biallelic IARS mutations cause growth retardation with prenatal
                   onset, intellectual disability, muscular hypotonia, and infantile hepatopathy. Am J Hum Genet 2016;99:414-22.
               135. Nichols RC, Blinder J, Pai SI, Ge Q, Targoff IN, et al. Assignment of two human autoantigen genes-isoleucyl-tRNA synthetase locates to
                   9q21 and lysyl-tRNA synthetase locates to 16q23-q24. Genomics 1996;36:210-3.
               136. Nichols RC, Raben N, Boerkoel CF, Plotz PH. Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing,
                   and the characteristics of an unusually long C-terminal extension. Gene 1995;155:299-304.
               137. Orenstein N, Weiss K, Oprescu SN, Shapira R, Kidron D, et al. Bi-allelic IARS mutations in a child with intra-uterine growth retardation,
                   neonatal cholestasis, and mild developmental delay. Clin Genet 2017;91:913-7.
               138. Smigiel R, Biela M, Biernacka A, Stembalska A, Sasiadek M, et al. New evidence for association of recessive IARS gene mutations with
                   hepatopathy, hypotonia, intellectual disability and growth retardation. Clin Genet 2017;92:671-3.
   24   25   26   27   28   29   30   31   32   33   34