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Page 66 Franz et al. J Transl Genet Genom 2020;4:50-70 I https://doi.org/10.20517/jtgg.2020.13

79. Monies D, Vagbo CB, Al-Owain M, Alhomaidi S, Alkuraya FS. Recessive truncating mutations in ALKBH8 cause intellectual disability
and severe impairment of wobble uridine modification. Am J Hum Genet 2019;104:1202-9.
80. Shimada K, Nakamura M, Anai S, De Velasco M, Tanaka M, et al. A novel human AlkB homologue, ALKBH8, contributes to human
bladder cancer progression. Cancer Res 2009;69:3157-64.
81. Tsujikawa K, Koike K, Kitae K, Shinkawa A, Arima H, et al. Expression and sub-cellular localization of human ABH family molecules. J
Cell Mol Med 2007;11:1105-16.
82. Arrondel C, Missoury S, Snoek R, Patat J, Menara G, et al. Defects in t(6)A tRNA modification due to GON7 and YRDC mutations lead
to Galloway-Mowat syndrome. Nat Commun 2019;10:3967.
83. Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with
primary microcephaly. Nat Genet 2017;49:1529-38.
84. Edvardson S, Prunetti L, Arraf A, Haas D, Bacusmo JM, et al. tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/
TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. Eur J Hum Genet 2017;25:545-51.
85. Miyoshi A, Kito K, Aramoto T, Abe Y, Kobayashi N, et al. Identification of CGI-121, a novel PRPK (p53-related protein kinase)-binding
protein. Biochem Biophys Res Commun 2003;303:399-405.
86. Gillis D, Krishnamohan A, Yaacov B, Shaag A, Jackman JE, et al. TRMT10A dysfunction is associated with abnormalities in glucose
homeostasis, short stature and microcephaly. J Med Genet 2014;51:581-6.
87. Howell NW, Jora M, Jepson BF, Limbach PA, Jackman JE. Distinct substrate specificities of the human tRNA methyltransferases
TRMT10A and TRMT10B. RNA 2019;25:1366-76.
88. Igoillo-Esteve M, Genin A, Lambert N, Desir J, Pirson I, et al. tRNA methyltransferase homolog gene TRMT10A mutation in young
onset diabetes and primary microcephaly in humans. PLoS Genet 2013;9:e1003888.
89. Krishnamohan A, Jackman JE. Mechanistic features of the atypical tRNA m1G9 SPOUT methyltransferase, Trm10. Nucleic Acids Res
2017;45:9019-29.
90. Krishnamohan A, Jackman JE. A family divided: distinct structural and mechanistic features of the SpoU-TrmD (SPOUT)
methyltransferase superfamily. Biochemistry 2019;58:336-45.
91. Yew TW, McCreight L, Colclough K, Ellard S, Pearson ER. tRNA methyltransferase homologue gene TRMT10A mutation in young
adult-onset diabetes with intellectual disability, microcephaly and epilepsy. Diabet Med 2016;33:e21-5.
92. Zung A, Kori M, Burundukov E, Ben-Yosef T, Tatoor Y, et al. Homozygous deletion of TRMT10A as part of a contiguous gene deletion
in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus. Am J Med Genet A 2015;167A:3167-73.
93. Cohen JS, Srivastava S, Farwell KD, Lu HM, Zeng W, et al. ELP2 is a novel gene implicated in neurodevelopmental disabilities. Am J
Med Genet A 2015;167:1391-5.
94. Dalwadi U, Yip CK. Structural insights into the function of Elongator. Cell Mol Life Sci 2018;75:1613-22.
95. Dauden MI, Kosinski J, Kolaj-Robin O, Desfosses A, Ori A, et al. Architecture of the yeast Elongator complex. EMBO Rep 2017;18:264-
79.
96. Hawkes NA, Otero G, Winkler GS, Marshall N, Dahmus ME, et al. Purification and characterization of the human elongator complex. J
Biol Chem 2002;277:3047-52.
97. Johansson MJO, Xu F, Byström AS. Elongator—a tRNA modifying complex that promotes efficient translational decoding. Biochim
Biophys Acta Gene Regul Mech 2018;1861:401-8.
98. Karlsborn T, Tukenmez H, Mahmud AK, Xu F, Xu H, et al. Elongator, a conserved complex required for wobble uridine modifications in
eukaryotes. RNA Biol 2014;11:1519-28.
99. Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, et al. Microdeletions of ELP4 are associated with language impairment, autism
spectrum disorder, and mental retardation. Hum Mutat 2015;36:842-50.
100. Hu P, Meng L, Ma D, Qiao F, Wang Y, et al. A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia,
ptosis and mental retardation. Mol Cytogenet 2015;8:3.
101. Strug LJ, Clarke T, Chiang T, Chien M, Baskurt Z, et al. Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator
Protein Complex 4 (ELP4). Eur J Hum Genet 2009;17:1171-81.
102. Dewez M, Bauer F, Dieu M, Raes M, Vandenhaute J, et al. The conserved Wobble uridine tRNA thiolase Ctu1-Ctu2 is required to
maintain genome integrity. Proc Natl Acad Sci U S A 2008;105:5459-64.
103. Rapino F, Delaunay S, Rambow F, Zhou Z, Tharun L, et al. Codon-specific translation reprogramming promotes resistance to targeted
therapy. Nature 2018;558:605-9.
104. Schlieker CD, Van der Veen AG, Damon JR, Spooner E, Ploegh HL. A functional proteomics approach links the ubiquitin-related
modifier Urm1 to a tRNA modification pathway. Proc Natl Acad Sci U S A 2008;105:18255-60.
105. Shaheen R, Al-Salam Z, El-Hattab AW, Alkuraya FS. The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia,
microcephaly, polydactyly and lissencephaly (DREAM-PL): report of two additional patients. Am J Med Genet A 2016;170:3222-6.
106. Shaheen R, Mark P, Prevost CT, AlKindi A, Alhag A, et al. Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation
of tRNA wobble U34. Hum Mutat 2019;40:2108-20.
107. Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, et al. Accelerating matchmaking of novel dysmorphology syndromes
through clinical and genomic characterization of a large cohort. Genet Med 2016;18:686-95.
108. Alfares A, Alfadhel M, Wani T, Alsahli S, Alluhaydan I, et al. A multicenter clinical exome study in unselected cohorts from a
consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. Mol Genet Metab 2017;121:91-5.
109. Chen J, Patton JR. Pseudouridine synthase 3 from mouse modifies the anticodon loop of tRNA. Biochemistry 2000;39:12723-30.