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Items: 1 to 20 of 98

1.

Identification of a novel PEX14 mutation in Zellweger syndrome.

Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D.

BMJ Case Rep. 2009;2009. pii: bcr07.2008.0503. doi: 10.1136/bcr.07.2008.0503. Epub 2009 Jan 23.

2.

Identification of a novel PEX14 mutation in Zellweger syndrome.

Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D.

J Med Genet. 2008 Jun;45(6):376-83. doi: 10.1136/jmg.2007.056697. Epub 2008 Feb 19.

PMID:
18285423
3.

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.

Shimozawa N, Tsukamoto T, Nagase T, Takemoto Y, Koyama N, Suzuki Y, Komori M, Osumi T, Jeannette G, Wanders RJ, Kondo N.

Hum Mutat. 2004 Jun;23(6):552-8.

PMID:
15146459
4.

First Japanese case of Zellweger syndrome with a mutation in PEX14.

Komatsuzaki S, Ogawa E, Shimozawa N, Sakamoto O, Haginoya K, Uematsu M, Hasegawa Y, Matsubara Y, Ohura T.

Pediatr Int. 2015 Dec;57(6):1189-92. doi: 10.1111/ped.12713. Epub 2015 Dec 2.

PMID:
26627464
5.

Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease.

Baumgartner MR, Verhoeven NM, Jakobs C, Roels F, Espeel M, Martinez M, Rabier D, Wanders RJ, Saudubray JM.

Neurology. 1998 Nov;51(5):1427-32.

PMID:
9818873
6.

Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype.

Maxwell M, Bjorkman J, Nguyen T, Sharp P, Finnie J, Paterson C, Tonks I, Paton BC, Kay GF, Crane DI.

Mol Cell Biol. 2003 Aug;23(16):5947-57.

7.

The Hansenula polymorpha PEX14 gene encodes a novel peroxisomal membrane protein essential for peroxisome biogenesis.

Komori M, Rasmussen SW, Kiel JA, Baerends RJ, Cregg JM, van der Klei IJ, Veenhuis M.

EMBO J. 1997 Jan 2;16(1):44-53.

8.

Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.

Van Maldergem L, Espeel M, Wanders RJ, Roels F, Gerard P, Scalais E, Mannaerts GP, Casteels M, Gillerot Y.

Neuromuscul Disord. 1992;2(3):217-24.

PMID:
1483048
9.

Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.

Krause C, Rosewich H, Woehler A, Gärtner J.

Hum Mol Genet. 2013 Oct 1;22(19):3844-57. doi: 10.1093/hmg/ddt238. Epub 2013 May 27.

PMID:
23716570
10.

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.

11.

Identification of a novel, intraperoxisomal pex14-binding site in pex13: association of pex13 with the docking complex is essential for peroxisomal matrix protein import.

Schell-Steven A, Stein K, Amoros M, Landgraf C, Volkmer-Engert R, Rottensteiner H, Erdmann R.

Mol Cell Biol. 2005 Apr;25(8):3007-18.

12.

Matrix proteins are inefficiently imported into Arabidopsis peroxisomes lacking the receptor-docking peroxin PEX14.

Monroe-Augustus M, Ramón NM, Ratzel SE, Lingard MJ, Christensen SE, Murali C, Bartel B.

Plant Mol Biol. 2011 Sep;77(1-2):1-15. doi: 10.1007/s11103-011-9782-0. Epub 2011 May 8.

13.

Inhibition of peroxisomal functions due to oxidative imbalance induced by mistargeting of catalase to cytoplasm is restored by vitamin E treatment in skin fibroblasts from Zellweger syndrome-like patients.

Kawada Y, Khan M, Sharma AK, Ratnayake DB, Dobashi K, Asayama K, Moser HW, Contreras MA, Singh I.

Mol Genet Metab. 2004 Dec;83(4):297-305.

PMID:
15589116
14.

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.

Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA.

Am J Hum Genet. 2000 Oct;67(4):967-75. Epub 2000 Aug 24.

15.
16.

Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.

Schutgens RB, Wanders RJ, Heymans HS, Schram AW, Tager JM, Schrakamp G, van den Bosch H.

J Inherit Metab Dis. 1987;10 Suppl 1:33-45. Review.

PMID:
3119940
17.
19.

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.

20.

Peroxisomal integral membrane proteins in control and Zellweger fibroblasts.

Santos MJ, Imanaka T, Shio H, Lazarow PB.

J Biol Chem. 1988 Jul 25;263(21):10502-9.

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