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Results: 1 to 20 of 128

1.

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
2.

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

Warren DS, Wolfe BD, Gould SJ.

Hum Mutat. 2000;15(6):509-21.

PMID:
10862081
[PubMed - indexed for MEDLINE]
3.

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
4.

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.

Gootjes J, Schmohl F, Waterham HR, Wanders RJ.

Eur J Hum Genet. 2004 Feb;12(2):115-20.

PMID:
14571262
[PubMed - indexed for MEDLINE]
Free Article
5.

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.

Chang CC, Lee WH, Moser H, Valle D, Gould SJ.

Nat Genet. 1997 Apr;15(4):385-8.

PMID:
9090384
[PubMed - indexed for MEDLINE]
6.

Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y.

Biochem J. 2001 Jul 15;357(Pt 2):417-26.

PMID:
11439091
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
8.

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
9.

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y.

Am J Hum Genet. 2003 Aug;73(2):233-46. Epub 2003 Jul 8.

PMID:
12851857
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
11.

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
12.

Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

Maxwell MA, Allen T, Solly PB, Svingen T, Paton BC, Crane DI.

Hum Mutat. 2002 Nov;20(5):342-51.

PMID:
12402331
[PubMed - indexed for MEDLINE]
13.

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
14.

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.

Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A, Korman SH.

J Hum Genet. 2007;52(7):599-606. Epub 2007 May 30.

PMID:
17534573
[PubMed - indexed for MEDLINE]
15.

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
16.

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.

Gootjes J, Schmohl F, Mooijer PA, Dekker C, Mandel H, Topcu M, Huemer M, Von Schütz M, Marquardt T, Smeitink JA, Waterham HR, Wanders RJ.

Hum Mutat. 2004 Aug;24(2):130-9.

PMID:
15241794
[PubMed - indexed for MEDLINE]
17.

Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene.

Björkman J, Stetten G, Moore CS, Gould SJ, Crane DI.

Genomics. 1998 Dec 15;54(3):521-8.

PMID:
9878256
[PubMed - indexed for MEDLINE]
18.

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR.

Hum Mutat. 2009 Jan;30(1):93-8. doi: 10.1002/humu.20833.

PMID:
18712838
[PubMed - indexed for MEDLINE]
19.

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, Gould SJ.

Nat Genet. 1997 Dec;17(4):445-8.

PMID:
9398847
[PubMed - indexed for MEDLINE]
20.

The Arabidopsis PEX12 gene is required for peroxisome biogenesis and is essential for development.

Fan J, Quan S, Orth T, Awai C, Chory J, Hu J.

Plant Physiol. 2005 Sep;139(1):231-9. Epub 2005 Aug 19.

PMID:
16113209
[PubMed - indexed for MEDLINE]
Free PMC Article

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