Fowler B - Search Results

1

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B₁₂-trafficking proteins ABCD4 and LMBD1.

Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR. Fettelschoss V, et al. Among authors: fowler b. J Biol Chem. 2017 Jul 14;292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1. J Biol Chem. 2017. PMID: 28572511 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

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.

Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR. Coelho D, et al. Among authors: fowler b. Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26. Nat Genet. 2012. PMID: 22922874 Free article.

4

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

Froese DS, Kopec J, Fitzpatrick F, Schuller M, McCorvie TJ, Chalk R, Plessl T, Fettelschoss V, Fowler B, Baumgartner MR, Yue WW. Froese DS, et al. Among authors: fowler b. J Biol Chem. 2015 Dec 4;290(49):29167-77. doi: 10.1074/jbc.M115.683268. Epub 2015 Oct 19. J Biol Chem. 2015. PMID: 26483544 Free PMC article.

5

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.

Forny P, Schnellmann AS, Buerer C, Lutz S, Fowler B, Froese DS, Baumgartner MR. Forny P, et al. Among authors: fowler b. Hum Mutat. 2016 Aug;37(8):745-54. doi: 10.1002/humu.23013. Epub 2016 May 23. Hum Mutat. 2016. PMID: 27167370

6

Vitamin B₁₂ , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation.

Froese DS, Fowler B, Baumgartner MR. Froese DS, et al. Among authors: fowler b. J Inherit Metab Dis. 2019 Jul;42(4):673-685. doi: 10.1002/jimd.12009. Epub 2019 Jan 28. J Inherit Metab Dis. 2019. PMID: 30693532 Free article. Review.

7

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B. Suormala T, et al. Among authors: fowler b. J Biol Chem. 2004 Oct 8;279(41):42742-9. doi: 10.1074/jbc.M407733200. Epub 2004 Aug 2. J Biol Chem. 2004. PMID: 15292234 Free article.

8

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR. Dantas MF, et al. Among authors: fowler b. Hum Mutat. 2005 Aug;26(2):164. doi: 10.1002/humu.9352. Hum Mutat. 2005. PMID: 16010683

9

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR. Lempp TJ, et al. Among authors: fowler b. Mol Genet Metab. 2007 Mar;90(3):284-90. doi: 10.1016/j.ymgme.2006.10.002. Epub 2006 Nov 20. Mol Genet Metab. 2007. PMID: 17113806

10

Gene identification for the cblD defect of vitamin B12 metabolism.

Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Coelho D, et al. Among authors: fowler b. N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200. N Engl J Med. 2008. PMID: 18385497 Free article.

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