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Items: 1 to 20 of 50

1.

Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing.

Sun Y, Wang L, Wei X, Zhu Q, Yang Y, Lan Z, Qu N, Chu Y, Wang Y, Yang S, Liang Y, Wang W, Yi X.

Clin Chim Acta. 2013 Feb 18;417:57-61. doi: 10.1016/j.cca.2012.12.005. Epub 2012 Dec 13.

PMID:
23247051
2.

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.

3.

Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

Maxwell MA, Leane PB, Paton BC, Crane DI.

Hum Mutat. 2005 Sep;26(3):279.

PMID:
16088892
4.

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.

Crane DI, Maxwell MA, Paton BC.

Hum Mutat. 2005 Sep;26(3):167-75. Review.

PMID:
16086329
5.

Metabolic and molecular basis of peroxisomal disorders: a review.

Wanders RJ.

Am J Med Genet A. 2004 May 1;126A(4):355-75. Review.

PMID:
15098234
6.

Study of mutant proteins with folding defects in cultured patient cells.

Dodt G, Walter C.

Methods Mol Biol. 2003;232:165-73. No abstract available.

PMID:
12840548
7.

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
8.

PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.

Preuss N, Brosius U, Biermanns M, Muntau AC, Conzelmann E, Gartner J.

Pediatr Res. 2002 Jun;51(6):706-14.

PMID:
12032265
9.

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.

11.

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
12.

Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7.

Naritomi K, Izumikawa Y, Ohshiro S, Yoshida K, Shimozawa N, Suzuki Y, Orii T, Hirayama K.

Hum Genet. 1989 Dec;84(1):79-80.

PMID:
2606480
13.

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

Ratbi I, Jaouad IC, Elorch H, Al-Sheqaih N, Elalloussi M, Lyahyai J, Berraho A, Newman WG, Sefiani A.

Eur J Med Genet. 2016 Oct;59(10):507-11. doi: 10.1016/j.ejmg.2016.09.004. Epub 2016 Sep 12.

PMID:
27633571
14.

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF.

Eur J Hum Genet. 2016 Nov;24(11):1565-1571. doi: 10.1038/ejhg.2016.62. Epub 2016 Jun 15.

15.

Structures of the double-ring AAA ATPase Pex1-Pex6 involved in peroxisome biogenesis.

Tan D, Blok NB, Rapoport TA, Walz T.

FEBS J. 2016 Mar;283(6):986-92. doi: 10.1111/febs.13569. Epub 2015 Nov 12. Review.

16.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G.

Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17.

17.

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

Rosewich H, Ohlenbusch A, Gärtner J.

J Med Genet. 2005 Sep;42(9):e58.

18.

Crystallographic characterization of the N-terminal domain of PEX1.

Shiozawa K, Maita N, Tomii K, Seto A, Goda N, Akiyama Y, Shimizu T, Shirakawa M, Hiroaki H.

Acta Crystallogr D Biol Crystallogr. 2004 Nov;60(Pt 11):2098-9. Epub 2004 Oct 20.

PMID:
15502339
19.

Structure of the N-terminal domain of PEX1 AAA-ATPase. Characterization of a putative adaptor-binding domain.

Shiozawa K, Maita N, Tomii K, Seto A, Goda N, Akiyama Y, Shimizu T, Shirakawa M, Hiroaki H.

J Biol Chem. 2004 Nov 26;279(48):50060-8. Epub 2004 Aug 24.

20.

Identification of a common PEX1 mutation in Zellweger syndrome.

Collins CS, Gould SJ.

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

PMID:
10447258

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