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Results: 20

1.

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

Thoms S, Grønborg S, Rabenau J, Ohlenbusch A, Rosewich H, Gärtner J.

BMC Med Genet. 2011 Aug 16;12:109. doi: 10.1186/1471-2350-12-109.

PMID:
21846392
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders.

Mast FD, Li J, Virk MK, Hughes SC, Simmonds AJ, Rachubinski RA.

Dis Model Mech. 2011 Sep;4(5):659-72. doi: 10.1242/dmm.007419. Epub 2011 Jun 13.

PMID:
21669930
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Rational diagnostic strategy for Zellweger syndrome spectrum patients.

Krause C, Rosewich H, Gärtner J.

Eur J Hum Genet. 2009 Jun;17(6):741-8. doi: 10.1038/ejhg.2008.252. Epub 2009 Jan 14.

PMID:
19142205
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E.

Am J Hum Genet. 2006 Oct;79(4):759-64. Epub 2006 Aug 24.

PMID:
16960814
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Shuttling mechanism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP-dependent export.

Miyata N, Fujiki Y.

Mol Cell Biol. 2005 Dec;25(24):10822-32.

PMID:
16314507
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould SJ, Valle D.

Am J Hum Genet. 2005 Jun;76(6):987-1007. Epub 2005 Apr 27.

PMID:
15858711
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR.

J Clin Invest. 2004 Sep;114(6):837-45.

PMID:
15372108
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

An Arabidopsis indole-3-butyric acid-response mutant defective in PEROXIN6, an apparent ATPase implicated in peroxisomal function.

Zolman BK, Bartel B.

Proc Natl Acad Sci U S A. 2004 Feb 10;101(6):1786-91. Epub 2004 Jan 26.

PMID:
14745029
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G.

Am J Hum Genet. 2001 Jul;69(1):35-48. Epub 2001 Jun 1.

PMID:
11389485
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The peroxisome biogenesis factors pex4p, pex22p, pex1p, and pex6p act in the terminal steps of peroxisomal matrix protein import.

Collins CS, Kalish JE, Morrell JC, McCaffery JM, Gould SJ.

Mol Cell Biol. 2000 Oct;20(20):7516-26.

PMID:
11003648
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis.

South ST, Sacksteder KA, Li X, Liu Y, Gould SJ.

J Cell Biol. 2000 Jun 26;149(7):1345-60.

PMID:
10871277
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.

Chang CC, Warren DS, Sacksteder KA, Gould SJ.

J Cell Biol. 1999 Nov 15;147(4):761-74.

PMID:
10562279
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.

Liu Y, Björkman J, Urquhart A, Wanders RJ, Crane DI, Gould SJ.

Am J Hum Genet. 1999 Sep;65(3):621-34.

PMID:
10441568
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Peroxisome synthesis in the absence of preexisting peroxisomes.

South ST, Gould SJ.

J Cell Biol. 1999 Jan 25;144(2):255-66.

PMID:
9922452
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

Honsho M, Tamura S, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y.

Am J Hum Genet. 1998 Dec;63(6):1622-30.

PMID:
9837814
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

Chang CC, Gould SJ.

Am J Hum Genet. 1998 Nov;63(5):1294-306.

PMID:
9792857
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ.

Am J Hum Genet. 1998 Aug;63(2):347-59.

PMID:
9683594
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.

Geisbrecht BV, Collins CS, Reuber BE, Gould SJ.

Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):8630-5.

PMID:
9671729
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.

Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y.

Mol Cell Biol. 1998 Jul;18(7):4324-36.

PMID:
9632816
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.

Tamura S, Okumoto K, Toyama R, Shimozawa N, Tsukamoto T, Suzuki Y, Osumi T, Kondo N, Fujiki Y.

Proc Natl Acad Sci U S A. 1998 Apr 14;95(8):4350-5.

PMID:
9539740
[PubMed - indexed for MEDLINE]
Free PMC Article

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