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S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues.
Beluzić R, Cuk M, Pavkov T, Barić I, Vugrek O. Beluzić R, et al. Among authors: cuk m. Biochem Biophys Res Commun. 2008 Mar 28;368(1):30-6. doi: 10.1016/j.bbrc.2008.01.042. Epub 2008 Jan 22. Biochem Biophys Res Commun. 2008. PMID: 18211827
Two missense mutations in codons 89 (A>V) and 143 (Y>C) in the AdoHcyase gene were identified [N.R.M. Buist, B. Glenn, O. Vugrek, C. Wagner, S. Stabler, R.H. Allen, I. Pogribny, A. Schulze, S.H. ...Accordingly, we have proven the Y143C mutation to be highly inactivat …
Two missense mutations in codons 89 (A>V) and 143 (Y>C) in the AdoHcyase gene were identified [N.R.M. Buist, B. Glenn, O. Vugre …
S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy.
Barić I, Cuk M, Fumić K, Vugrek O, Allen RH, Glenn B, Maradin M, Pazanin L, Pogribny I, Rados M, Sarnavka V, Schulze A, Stabler S, Wagner C, Zeisel SH, Mudd SH. Barić I, et al. Among authors: cuk m. J Inherit Metab Dis. 2005;28(6):885-902. doi: 10.1007/s10545-005-0192-9. J Inherit Metab Dis. 2005. PMID: 16435181 Free PMC article.
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.
Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH. Baric I, et al. Among authors: cuk m. Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4234-9. doi: 10.1073/pnas.0400658101. Epub 2004 Mar 15. Proc Natl Acad Sci U S A. 2004. PMID: 15024124 Free PMC article.
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.
Ninković D, Mustapić Ž, Bartoniček D, Benjak V, Ćuk M, Buljević AD, Grčić BF, Fumić K, Grizelj R, Lehman I, Ramadža DP, Sarnavka V, Slaviček J, Kastelić JS, Barišić N, Barić I. Ninković D, et al. Among authors: cuk m. Klin Padiatr. 2019 Mar;231(2):74-79. doi: 10.1055/a-0855-4001. Epub 2019 Mar 14. Klin Padiatr. 2019. PMID: 30870873 English.
Respiratory chain deficiency in nonmitochondrial disease.
Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R. Pyle A, et al. Among authors: cuk m. Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066545 Free PMC article.
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P. Horn D, et al. Among authors: cuk m. Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16. Eur J Hum Genet. 2014. PMID: 24129430 Free PMC article.
75 results