Fowler B - Search Results

1

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.

Palhais B, Præstegaard VS, Sabaratnam R, Doktor TK, Lutz S, Burda P, Suormala T, Baumgartner M, Fowler B, Bruun GH, Andersen HS, Kožich V, Andresen BS. Palhais B, et al. Among authors: fowler b. Nucleic Acids Res. 2015 May 19;43(9):4627-39. doi: 10.1093/nar/gkv275. Epub 2015 Apr 15. Nucleic Acids Res. 2015. PMID: 25878036 Free PMC article.

2

Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.

Stucki M, Suormala T, Fowler B, Valle D, Baumgartner MR. Stucki M, et al. Among authors: fowler b. J Biol Chem. 2009 Oct 16;284(42):28953-7. doi: 10.1074/jbc.M109.050674. Epub 2009 Aug 24. J Biol Chem. 2009. PMID: 19706617 Free PMC article.

3

Characterization of functional domains of the cblD (MMADHC) gene product.

Jusufi J, Suormala T, Burda P, Fowler B, Froese DS, Baumgartner MR. Jusufi J, et al. Among authors: fowler b. J Inherit Metab Dis. 2014 Sep;37(5):841-9. doi: 10.1007/s10545-014-9709-4. Epub 2014 Apr 11. J Inherit Metab Dis. 2014. PMID: 24722857 Free article.

4

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR. Burda P, et al. Among authors: fowler b. Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25736335

5

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V. Zavadáková P, et al. Among authors: fowler b. Hum Mutat. 2005 Mar;25(3):239-47. doi: 10.1002/humu.20131. Hum Mutat. 2005. PMID: 15714522

6

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR. Stucki M, et al. Among authors: fowler b. Hum Mol Genet. 2012 Mar 15;21(6):1410-8. doi: 10.1093/hmg/ddr579. Epub 2011 Dec 8. Hum Mol Genet. 2012. PMID: 22156578 Free article.

7

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS, Huemer M, Suormala T, Burda P, Coelho D, Guéant JL, Landolt MA, Kožich V, Fowler B, Baumgartner MR. Froese DS, et al. Among authors: fowler b. Hum Mutat. 2016 May;37(5):427-38. doi: 10.1002/humu.22970. Epub 2016 Mar 18. Hum Mutat. 2016. PMID: 26872964

8

CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.

Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilová K, Kozich V, Zavad'áková P. Zavadakova P, et al. Among authors: fowler b. J Inherit Metab Dis. 2002 Oct;25(6):461-76. doi: 10.1023/a:1021299117308. J Inherit Metab Dis. 2002. PMID: 12555939

9

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

Morscher RJ, Grünert SC, Bürer C, Burda P, Suormala T, Fowler B, Baumgartner MR. Morscher RJ, et al. Among authors: fowler b. Mol Genet Metab. 2012 Apr;105(4):602-6. doi: 10.1016/j.ymgme.2011.12.018. Epub 2011 Dec 31. Mol Genet Metab. 2012. PMID: 22264772

10

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

Burda P, Suormala T, Heuberger D, Schäfer A, Fowler B, Froese DS, Baumgartner MR. Burda P, et al. Among authors: fowler b. J Inherit Metab Dis. 2017 Mar;40(2):297-306. doi: 10.1007/s10545-016-9987-0. Epub 2016 Oct 14. J Inherit Metab Dis. 2017. PMID: 27743313

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