215 related articles for article (PubMed ID: 19004801)
1. Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.
Ferdinandusse S; Zomer AW; Komen JC; van den Brink CE; Thanos M; Hamers FP; Wanders RJ; van der Saag PT; Poll-The BT; Brites P
Proc Natl Acad Sci U S A; 2008 Nov; 105(46):17712-7. PubMed ID: 19004801
[TBL] [Abstract][Full Text] [Related]
2. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Jansen GA; Ofman R; Ferdinandusse S; Ijlst L; Muijsers AO; Skjeldal OH; Stokke O; Jakobs C; Besley GT; Wraith JE; Wanders RJ
Nat Genet; 1997 Oct; 17(2):190-3. PubMed ID: 9326940
[TBL] [Abstract][Full Text] [Related]
3. Identification of PEX7 as the second gene involved in Refsum disease.
van den Brink DM; Brites P; Haasjes J; Wierzbicki AS; Mitchell J; Lambert-Hamill M; de Belleroche J; Jansen GA; Waterham HR; Wanders RJ
Am J Hum Genet; 2003 Feb; 72(2):471-7. PubMed ID: 12522768
[TBL] [Abstract][Full Text] [Related]
4. Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?
Foulon V; Asselberghs S; Geens W; Mannaerts GP; Casteels M; Van Veldhoven PP
J Lipid Res; 2003 Dec; 44(12):2349-55. PubMed ID: 12923223
[TBL] [Abstract][Full Text] [Related]
5. Phytol-induced pathology in 2-hydroxyacyl-CoA lyase (HACL1) deficient mice. Evidence for a second non-HACL1-related lyase.
Mezzar S; De Schryver E; Asselberghs S; Meyhi E; Morvay PL; Baes M; Van Veldhoven PP
Biochim Biophys Acta Mol Cell Biol Lipids; 2017 Sep; 1862(9):972-990. PubMed ID: 28629946
[TBL] [Abstract][Full Text] [Related]
6. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Jansen GA; Waterham HR; Wanders RJ
Hum Mutat; 2004 Mar; 23(3):209-18. PubMed ID: 14974078
[TBL] [Abstract][Full Text] [Related]
7. Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease.
Busanello EN; Zanatta Â; Tonin AM; Viegas CM; Vargas CR; Leipnitz G; Ribeiro CA; Wajner M
J Bioenerg Biomembr; 2013 Feb; 45(1-2):137-44. PubMed ID: 23151916
[TBL] [Abstract][Full Text] [Related]
8. Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management.
Weinstein R
J Clin Apher; 1999; 14(4):181-4. PubMed ID: 10611628
[TBL] [Abstract][Full Text] [Related]
9. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
Wierzbicki AS; Lloyd MD; Schofield CJ; Feher MD; Gibberd FB
J Neurochem; 2002 Mar; 80(5):727-35. PubMed ID: 11948235
[TBL] [Abstract][Full Text] [Related]
10. Identification of PAHX, a Refsum disease gene.
Mihalik SJ; Morrell JC; Kim D; Sacksteder KA; Watkins PA; Gould SJ
Nat Genet; 1997 Oct; 17(2):185-9. PubMed ID: 9326939
[TBL] [Abstract][Full Text] [Related]
11. Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene.
Chahal A; Khan M; Pai SG; Barbosa E; Singh I
FEBS Lett; 1998 Jun; 429(1):119-22. PubMed ID: 9657395
[TBL] [Abstract][Full Text] [Related]
12. [Refsum's disease: evolution 35 years after diagnosis].
Marcaud V; Defontaines B; Jung P; Degos CF
Rev Neurol (Paris); 2002 Feb; 158(2):225-9. PubMed ID: 11965181
[TBL] [Abstract][Full Text] [Related]
13. Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy.
Herbert MA; Clayton PT
J Inherit Metab Dis; 1994; 17(2):211-4. PubMed ID: 7526031
[TBL] [Abstract][Full Text] [Related]
14. Phytanic acid metabolism in health and disease.
Wanders RJ; Komen J; Ferdinandusse S
Biochim Biophys Acta; 2011 Sep; 1811(9):498-507. PubMed ID: 21683154
[TBL] [Abstract][Full Text] [Related]
15. Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.
Khalil Y; Carrino S; Lin F; Ferlin A; Lad HV; Mazzacuva F; Falcone S; Rivers N; Banks G; Concas D; Aguilar C; Haynes AR; Blease A; Nicol T; Al-Shawi R; Heywood W; Potter P; Mills K; Gale DP; Clayton PT
Int J Mol Sci; 2022 Jan; 23(2):. PubMed ID: 35055171
[TBL] [Abstract][Full Text] [Related]
16. Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase.
Lee ZH; Kim H; Ahn KY; Seo KH; Kim JK; Bae CS; Kim KK
Brain Res Mol Brain Res; 2000 Feb; 75(2):237-47. PubMed ID: 10686344
[TBL] [Abstract][Full Text] [Related]
17. [Refsum syndrome, heredopathia atactica polyneuritiformis in the view of the otolaryngologist (author's transl)].
Feldmann H
Laryngol Rhinol Otol (Stuttg); 1981 May; 60(5):235-40. PubMed ID: 6164893
[TBL] [Abstract][Full Text] [Related]
18. Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes.
Singh I; Pahan K; Singh AK; Barbosa E
J Lipid Res; 1993 Oct; 34(10):1755-64. PubMed ID: 7504046
[TBL] [Abstract][Full Text] [Related]
19. Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa.
Finsterer J; Regelsberger G; Voigtländer T
J Neurol Sci; 2008 Mar; 266(1-2):182-6. PubMed ID: 17905308
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
