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Items: 1 to 20 of 127

1.

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
2.

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.

3.
4.

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.

5.

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.

6.

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
7.

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.

8.

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.

Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH, Dodt G.

Nat Genet. 1997 Dec;17(4):449-52.

PMID:
9398848
9.

Metabolic control of peroxisome abundance.

Chang CC, South S, Warren D, Jones J, Moser AB, Moser HW, Gould SJ.

J Cell Sci. 1999 May;112 ( Pt 10):1579-90.

10.

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
11.

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
12.

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.

13.

From expressed sequence tags to peroxisome biogenesis disorder genes.

Dodt G, Braverman N, Valle D, Gould SJ.

Ann N Y Acad Sci. 1996 Dec 27;804:516-23.

PMID:
8993569
14.

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ.

EMBO J. 1996 Jun 17;15(12):2914-23.

15.

Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.

Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Tsukamoto T, Osumi T, Tateishi K, Okumoto K, Fujiki Y, Orii T, Barth PG, Wanders RJ, Kondo N.

Biochem Biophys Res Commun. 1998 Feb 13;243(2):368-71.

PMID:
9480815
16.

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
17.

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
18.

Peroxisome biogenesis and molecular defects in peroxisome assembly disorders.

Fujiki Y, Okumoto K, Otera H, Tamura S.

Cell Biochem Biophys. 2000;32 Spring:155-64. Review.

PMID:
11330042
20.

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.

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