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Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB. Heidari A, et al. Among authors: tongsook c. Hum Mol Genet. 2015 Oct 15;24(20):5697-710. doi: 10.1093/hmg/ddv286. Epub 2015 Jul 23. Hum Mol Genet. 2015. PMID: 26206890 Free PMC article.
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC. Bernkopf M, et al. Among authors: tongsook c. Hum Mol Genet. 2014 Aug 1;23(15):4015-23. doi: 10.1093/hmg/ddu115. Epub 2014 Mar 13. Hum Mol Genet. 2014. PMID: 24626631 Free PMC article.
Phenolic hydroxylases.
Chenprakhon P, Pimviriyakul P, Tongsook C, Chaiyen P. Chenprakhon P, et al. Among authors: tongsook c. Enzymes. 2020;47:283-326. doi: 10.1016/bs.enz.2020.05.008. Epub 2020 Jul 18. Enzymes. 2020. PMID: 32951826
Tuning of pKa values activates substrates in flavin-dependent aromatic hydroxylases.
Pitsawong W, Chenprakhon P, Dhammaraj T, Medhanavyn D, Sucharitakul J, Tongsook C, van Berkel WJH, Chaiyen P, Miller AF. Pitsawong W, et al. Among authors: tongsook c. J Biol Chem. 2020 Mar 20;295(12):3965-3981. doi: 10.1074/jbc.RA119.011884. Epub 2020 Feb 2. J Biol Chem. 2020. PMID: 32014994 Free PMC article.
15 results