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Items: 1 to 20 of 40

1.

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.

2.

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.

3.

Yeast peroxisomes: function and biogenesis of a versatile cell organelle.

van der Klei IJ, Veenhuis M.

Trends Microbiol. 1997 Dec;5(12):502-9. Review.

PMID:
9447663
4.

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
5.

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
6.

PEX12 encodes an integral membrane protein of peroxisomes.

Okumoto K, Fujiki Y.

Nat Genet. 1997 Nov;17(3):265-6. No abstract available.

PMID:
9354782
7.

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.

Suzuki Y, Jiang LL, Souri M, Miyazawa S, Fukuda S, Zhang Z, Une M, Shimozawa N, Kondo N, Orii T, Hashimoto T.

Am J Hum Genet. 1997 Nov;61(5):1153-62.

8.

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.

PMID:
9326940
9.

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.

PMID:
9326939
10.

Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2.

de Vet EC, van den Broek BT, van den Bosch H.

Biochim Biophys Acta. 1997 May 17;1346(1):25-9.

PMID:
9187299
11.

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
12.

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.

Purdue PE, Zhang JW, Skoneczny M, Lazarow PB.

Nat Genet. 1997 Apr;15(4):381-4.

PMID:
9090383
13.

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.

Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek AL, Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJ, Distel B.

Nat Genet. 1997 Apr;15(4):377-80.

PMID:
9090382
14.

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.

Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D.

Nat Genet. 1997 Apr;15(4):369-76.

PMID:
9090381
15.

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.

16.

RNA-protein interactions in regulation of picornavirus RNA translation.

Belsham GJ, Sonenberg N.

Microbiol Rev. 1996 Sep;60(3):499-511. Review.

17.

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.

18.
19.

The skipping of constitutive exons in vivo induced by nonsense mutations.

Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR.

Science. 1993 Jan 29;259(5095):680-3.

PMID:
8430317
20.

Protein import into peroxisomes and biogenesis of the organelle.

Subramani S.

Annu Rev Cell Biol. 1993;9:445-78. Review. No abstract available.

PMID:
8280468

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