Format
Sort by

Send to

Choose Destination

Search results

Items: 1 to 20 of 54

1.

Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.

Bassila C, Ghemrawi R, Flayac J, Froese DS, Baumgartner MR, Guéant JL, Coelho D.

Biochim Biophys Acta. 2017 Jan;1863(1):103-112. doi: 10.1016/j.bbadis.2016.10.016.

PMID:
27771510
2.

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.

J Inherit Metab Dis. 2016 Oct 14. [Epub ahead of print]

PMID:
27743313
3.

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR.

J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717.

PMID:
27519416
4.

Timing and causes of mid-Holocene mammoth extinction on St. Paul Island, Alaska.

Graham RW, Belmecheri S, Choy K, Culleton BJ, Davies LJ, Froese D, Heintzman PD, Hritz C, Kapp JD, Newsom LA, Rawcliffe R, Saulnier-Talbot É, Shapiro B, Wang Y, Williams JW, Wooller MJ.

Proc Natl Acad Sci U S A. 2016 Aug 16;113(33):9310-4. doi: 10.1073/pnas.1604903113.

5.

Bison phylogeography constrains dispersal and viability of the Ice Free Corridor in western Canada.

Heintzman PD, Froese D, Ives JW, Soares AE, Zazula GD, Letts B, Andrews TD, Driver JC, Hall E, Hare PG, Jass CN, MacKay G, Southon JR, Stiller M, Woywitka R, Suchard MA, Shapiro B.

Proc Natl Acad Sci U S A. 2016 Jul 19;113(29):8057-63. doi: 10.1073/pnas.1601077113.

6.

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.

Hum Mutat. 2016 Aug;37(8):745-54. doi: 10.1002/humu.23013.

PMID:
27167370
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.

Hum Mutat. 2016 May;37(5):427-38. doi: 10.1002/humu.22970.

PMID:
26872964
8.

Airborne Petcoke Dust is a Major Source of Polycyclic Aromatic Hydrocarbons in the Athabasca Oil Sands Region.

Zhang Y, Shotyk W, Zaccone C, Noernberg T, Pelletier R, Bicalho B, Froese DG, Davies L, Martin JW.

Environ Sci Technol. 2016 Feb 16;50(4):1711-20. doi: 10.1021/acs.est.5b05092.

PMID:
26771587
9.

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

Riemersma M, Froese DS, van Tol W, Engelke UF, Kopec J, van Scherpenzeel M, Ashikov A, Krojer T, von Delft F, Tessari M, Buczkowska A, Swiezewska E, Jae LT, Brummelkamp TR, Manya H, Endo T, van Bokhoven H, Yue WW, Lefeber DJ.

Chem Biol. 2015 Dec 17;22(12):1643-52. doi: 10.1016/j.chembiol.2015.10.014.

10.

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.

J Biol Chem. 2015 Dec 4;290(49):29167-77. doi: 10.1074/jbc.M115.683268.

11.

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

Froese DS, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E, Goldblum A, Zatsepin M, Lossos A, Álvarez R, Escribá PV, Minassian BA, von Delft F, Kakhlon O, Yue WW.

Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280.

12.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B.

J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6.

PMID:
26025547
13.

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.

Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779.

PMID:
25736335
14.

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR.

J Inherit Metab Dis. 2015 Sep;38(5):863-72. doi: 10.1007/s10545-015-9810-3. Review.

PMID:
25633902
15.

The curious case of the Arctic mastodons.

Froese D.

Proc Natl Acad Sci U S A. 2014 Dec 30;111(52):18405-6. doi: 10.1073/pnas.1422018112. No abstract available.

16.

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Forny P, Froese DS, Suormala T, Yue WW, Baumgartner MR.

Hum Mutat. 2014 Dec;35(12):1449-58. doi: 10.1002/humu.22633.

17.

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

Jusufi J, Suormala T, Burda P, Fowler B, Froese DS, Baumgartner MR.

J Inherit Metab Dis. 2014 Sep;37(5):841-9. doi: 10.1007/s10545-014-9709-4.

PMID:
24722857
18.

Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ.

Wichelecki DJ, Froese DS, Kopec J, Muniz JR, Yue WW, Gerlt JA.

Biochemistry. 2014 Apr 29;53(16):2732-8. doi: 10.1021/bi500349e.

19.

Fifty thousand years of Arctic vegetation and megafaunal diet.

Willerslev E, Davison J, Moora M, Zobel M, Coissac E, Edwards ME, Lorenzen ED, Vestergård M, Gussarova G, Haile J, Craine J, Gielly L, Boessenkool S, Epp LS, Pearman PB, Cheddadi R, Murray D, Bråthen KA, Yoccoz N, Binney H, Cruaud C, Wincker P, Goslar T, Alsos IG, Bellemain E, Brysting AK, Elven R, Sønstebø JH, Murton J, Sher A, Rasmussen M, Rønn R, Mourier T, Cooper A, Austin J, Möller P, Froese D, Zazula G, Pompanon F, Rioux D, Niderkorn V, Tikhonov A, Savvinov G, Roberts RG, MacPhee RD, Gilbert MT, Kjær KH, Orlando L, Brochmann C, Taberlet P.

Nature. 2014 Feb 6;506(7486):47-51. doi: 10.1038/nature12921.

PMID:
24499916
20.

The Chobot site (Alberta, Canada) cannot provide evidence of a cosmic impact 12,800 y ago.

Ives JW, Froese D.

Proc Natl Acad Sci U S A. 2013 Oct 8;110(41):E3899. doi: 10.1073/pnas.1312333110. No abstract available.

Items per page

Supplemental Content

Loading ...
Support Center