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Results: 1 to 20 of 115

1.

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.

Gärtner J, Moser H, Valle D.

Nat Genet. 1992 Apr;1(1):16-23.

PMID:
1301993
[PubMed - indexed for MEDLINE]
2.

The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis.

Gärtner J, Valle D.

Semin Cell Biol. 1993 Feb;4(1):45-52. Review.

PMID:
8453064
[PubMed - indexed for MEDLINE]
3.

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
4.

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
5.

Identification of a common PEX1 mutation in Zellweger syndrome.

Collins CS, Gould SJ.

Hum Mutat. 1999;14(1):45-53.

PMID:
10447258
[PubMed - indexed for MEDLINE]
6.

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.

Lombard-Platet G, Savary S, Sarde CO, Mandel JL, Chimini G.

Proc Natl Acad Sci U S A. 1996 Feb 6;93(3):1265-9.

PMID:
8577752
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

Fukuda S, Shimozawa N, Suzuki Y, Zhang Z, Tomatsu S, Tsukamoto T, Hashiguchi N, Osumi T, Masuno M, Imaizumi K, Kuroki Y, Fujiki Y, Orii T, Kondo N.

Am J Hum Genet. 1996 Dec;59(6):1210-20.

PMID:
8940266
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Toyama R, Mukai S, Fujiki Y, Tsukamoto T, Osumi T, Orii T, Wanders RJ, Kondo N.

Hum Mol Genet. 1999 Jun;8(6):1077-83.

PMID:
10332040
[PubMed - indexed for MEDLINE]
Free Article
9.

[PMP70, the 70-kDa peroxisomal membrane protein: a member of the ATP-binding cassette transporters].

Kamijo K, Osumi T, Hashimoto T.

Nihon Rinsho. 1993 Sep;51(9):2343-52. Review. Japanese.

PMID:
8411712
[PubMed - indexed for MEDLINE]
10.

Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70.

Gärtner J, Brosius U, Obie C, Watkins PA, Valle D.

Eur J Cell Biol. 1998 Aug;76(4):237-45.

PMID:
9765053
[PubMed - indexed for MEDLINE]
11.

Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients.

Shimozawa N, Suzuki Y, Tomatsu S, Tsukamoto T, Osumi T, Fujiki Y, Kamijo K, Hashimoto T, Kondo N, Orii T.

Pediatr Res. 1996 May;39(5):812-5.

PMID:
8726233
[PubMed - indexed for MEDLINE]
12.

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.

Maxwell MA, Nelson PV, Chin SJ, Paton BC, Carey WF, Crane DI.

Hum Genet. 1999 Jul-Aug;105(1-2):38-44.

PMID:
10480353
[PubMed - indexed for MEDLINE]
13.

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
14.

Adrenoleukodystrophy and other peroxisomal diseases.

Aubourg P.

Curr Opin Genet Dev. 1994 Jun;4(3):407-11. Review.

PMID:
7919919
[PubMed - indexed for MEDLINE]
15.

Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.

Slawecki ML, Dodt G, Steinberg S, Moser AB, Moser HW, Gould SJ.

J Cell Sci. 1995 May;108 ( Pt 5):1817-29.

PMID:
7544797
[PubMed - indexed for MEDLINE]
Free Article
16.

A human gene responsible for Zellweger syndrome that affects peroxisome assembly.

Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y.

Science. 1992 Feb 28;255(5048):1132-4.

PMID:
1546315
[PubMed - indexed for MEDLINE]
17.

A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.

Shimozawa N, Nagase T, Takemoto Y, Suzuki Y, Fujiki Y, Wanders RJ, Kondo N.

Biochem Biophys Res Commun. 2002 Mar 22;292(1):109-12.

PMID:
11890679
[PubMed - indexed for MEDLINE]
18.

Characterization of the 70-kDa peroxisomal membrane protein, an ATP binding cassette transporter.

Imanaka T, Aihara K, Takano T, Yamashita A, Sato R, Suzuki Y, Yokota S, Osumi T.

J Biol Chem. 1999 Apr 23;274(17):11968-76.

PMID:
10207018
[PubMed - indexed for MEDLINE]
Free Article
19.

Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3.

Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D.

Genomics. 1993 Feb;15(2):412-4.

PMID:
8449508
[PubMed - indexed for MEDLINE]
20.

The Pichia pastoris PER6 gene product is a peroxisomal integral membrane protein essential for peroxisome biogenesis and has sequence similarity to the Zellweger syndrome protein PAF-1.

Waterham HR, de Vries Y, Russel KA, Xie W, Veenhuis M, Cregg JM.

Mol Cell Biol. 1996 May;16(5):2527-36.

PMID:
8628321
[PubMed - indexed for MEDLINE]
Free PMC Article

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