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Items: 1 to 20 of 82

1.

On the molecular basis of D-bifunctional protein deficiency type III.

Mehtälä ML, Lensink MF, Pietikäinen LP, Hiltunen JK, Glumoff T.

PLoS One. 2013;8(1):e53688. doi: 10.1371/journal.pone.0053688. Epub 2013 Jan 7.

2.

First-ever genetic link for Perrault syndrome established.

[No authors listed]

Am J Med Genet A. 2010 Nov;152A(11):fmix. doi: 10.1002/ajmg.a.33790. No abstract available.

PMID:
20979184
3.

Quaternary structure of human, Drosophila melanogaster and Caenorhabditis elegans MFE-2 in solution from synchrotron small-angle X-ray scattering.

Mehtälä ML, Haataja TJ, Blanchet CE, Hiltunen JK, Svergun DI, Glumoff T.

FEBS Lett. 2013 Feb 14;587(4):305-10. doi: 10.1016/j.febslet.2012.12.014. Epub 2013 Jan 8.

4.

A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.

Gloerich J, Denis S, van Grunsven EG, Dacremont G, Wanders RJ, Ferdinandusse S.

J Lipid Res. 2003 Mar;44(3):640-4. Epub 2002 Dec 1.

5.

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T.

Am J Hum Genet. 2006 Jan;78(1):112-24. Epub 2005 Nov 15.

6.

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.

Suzuki Y, Jiang LL, Souri M, Miyazawa S, Fukuda S, Zhang Z, Une M, Shimozawa N, Kondo N, Orii T, Hashimoto T.

Am J Hum Genet. 1997 Nov;61(5):1153-62.

7.

Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid.

Qin YM, Marttila MS, Haapalainen AM, Siivari KM, Glumoff T, Hiltunen JK.

J Biol Chem. 1999 Oct 1;274(40):28619-25.

8.

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.

van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ.

Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33.

9.

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium, Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM.

Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90.

10.

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

van Grunsven EG, Mooijer PA, Aubourg P, Wanders RJ.

Hum Mol Genet. 1999 Aug;8(8):1509-16.

PMID:
10400999
11.

Crystal structure of yeast peroxisomal multifunctional enzyme: structural basis for substrate specificity of (3R)-hydroxyacyl-CoA dehydrogenase units.

Ylianttila MS, Pursiainen NV, Haapalainen AM, Juffer AH, Poirier Y, Hiltunen JK, Glumoff T.

J Mol Biol. 2006 May 19;358(5):1286-95. Epub 2006 Mar 30.

PMID:
16574148
12.

Genotype and phenotype heterogeneity in perrault syndrome.

Kim MJ, Kim SJ, Kim J, Chae H, Kim M, Kim Y.

J Pediatr Adolesc Gynecol. 2013 Feb;26(1):e25-7. doi: 10.1016/j.jpag.2012.10.008.

PMID:
23332201
13.

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC.

Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub 2010 Jul 30.

14.

Perrault syndrome: further evidence for genetic heterogeneity.

Jenkinson EM, Clayton-Smith J, Mehta S, Bennett C, Reardon W, Green A, Pearce SH, De Michele G, Conway GS, Cilliers D, Moreton N, Davis JR, Trump D, Newman WG.

J Neurol. 2012 May;259(5):974-6. doi: 10.1007/s00415-011-6285-5. Epub 2011 Oct 27. No abstract available.

PMID:
22037954
15.

D-bifunctional protein deficiency associated with drug resistant infantile spasms.

Buoni S, Zannolli R, Waterham H, Wanders R, Fois A.

Brain Dev. 2007 Jan;29(1):51-4. Epub 2006 Aug 21.

PMID:
16919904
16.

Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.

Tsuchida S, Kawamoto K, Endo N, Nunome K, Hamaue N, Aoki T.

J Oleo Sci. 2012;61(8):443-50.

17.

Identification of residues important for the catalysis, structure maintenance, and substrate specificity of yeast 3-hydroxyacyl-CoA dehydratase Phs1.

Yazawa T, Naganuma T, Yamagata M, Kihara A.

FEBS Lett. 2013 Mar 18;587(6):804-9. doi: 10.1016/j.febslet.2013.02.006. Epub 2013 Feb 14.

18.

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency.

Paton BC, Solly PB, Nelson PV, Pollard AN, Sharp PC, Fietz MJ.

Prenat Diagn. 2002 Jan;22(1):38-41.

PMID:
11810648
19.

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.

Grønborg S, Krätzner R, Spiegler J, Ferdinandusse S, Wanders RJ, Waterham HR, Gärtner J.

Am J Med Genet A. 2010 Nov;152A(11):2845-9. doi: 10.1002/ajmg.a.33677.

PMID:
20949532
20.

Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency.

Ferdinandusse S, Finckh B, de Hingh YC, Stroomer LE, Denis S, Kohlschütter A, Wanders RJ.

Mol Genet Metab. 2003 Aug;79(4):281-7.

PMID:
12948743

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