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Results: 10

PubMed Links for Nucleotide (Select 196114960)

1.

Leukodystrophy Overview.

Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2014 Feb 06.

2.

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum.

Steinberg SJ, Raymond GV, Braverman NE, Moser AB.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2003 Dec 12 [updated 2012 May 10].

3.

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG.

Hum Mutat. 2009 Mar;30(3):E467-80. doi: 10.1002/humu.20932.

4.
5.

The Arabidopsis pex12 and pex13 mutants are defective in both PTS1- and PTS2-dependent protein transport to peroxisomes.

Mano S, Nakamori C, Nito K, Kondo M, Nishimura M.

Plant J. 2006 Aug;47(4):604-18. Epub 2006 Jun 30.

PMID:
16813573
6.

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
7.

Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli.

Schrader M, Reuber BE, Morrell JC, Jimenez-Sanchez G, Obie C, Stroh TA, Valle D, Schroer TA, Gould SJ.

J Biol Chem. 1998 Nov 6;273(45):29607-14.

8.

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.

9.

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
10.

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
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