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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
ABCD1
gene.
Entrez
Gene
Hillebrand M, Verrier SE, Ohlenbusch A, Schäfer A, Söling HD, Wouters FS, Gärtner J. Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3). J Biol Chem. 2007 Sep 14;282(37):26997-7005. Epub 2007 Jul 3.
PubMed citation
Höftberger R, Kunze M, Weinhofer I, Aboul-Enein F, Voigtländer T, Oezen I, Amann G, Bernheimer H, Budka H, Berger J. Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy. Neurobiol Dis. 2007 Nov;28(2):165-74. Epub 2007 Aug 29.
PubMed citation
Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat. 2001 Dec;18(6):499-515. Review.
PubMed citation
Moser H, Dubey P, Fatemi A. Progress in X-linked adrenoleukodystrophy. Curr Opin Neurol. 2004 Jun;17(3):263-9. Review.
PubMed citation
OMIM:
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER
1
Pohl A, Devaux PF, Herrmann A. Function of prokaryotic and eukaryotic ABC proteins in lipid transport. Biochim Biophys Acta. 2005 Mar 21;1733(1):29-52. Epub 2004 Dec 31. Review.
PubMed citation
Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107-33. Review.
PubMed citation
X-linked Adrenoleukodystrophy
Database
Reviewed: September 2008
Published: May 20, 2013