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X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

Standard

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype. / Maier, Esther M; Mayerhofer, Peter U; Asheuer, Muriel; Köhler, Wolfgang; Rothe, Martina; Muntau, Ania C; Roscher, Adelbert A; Holzinger, Andreas; Aubourg, Patrick; Berger, Johannes.

in: BIOCHEM BIOPH RES CO, Jahrgang 377, Nr. 1, 05.12.2008, S. 176-80.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Maier, EM, Mayerhofer, PU, Asheuer, M, Köhler, W, Rothe, M, Muntau, AC, Roscher, AA, Holzinger, A, Aubourg, P & Berger, J 2008, 'X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype', BIOCHEM BIOPH RES CO, Jg. 377, Nr. 1, S. 176-80. https://doi.org/10.1016/j.bbrc.2008.09.092

APA

Maier, E. M., Mayerhofer, P. U., Asheuer, M., Köhler, W., Rothe, M., Muntau, A. C., Roscher, A. A., Holzinger, A., Aubourg, P., & Berger, J. (2008). X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype. BIOCHEM BIOPH RES CO, 377(1), 176-80. https://doi.org/10.1016/j.bbrc.2008.09.092

Vancouver

Maier EM, Mayerhofer PU, Asheuer M, Köhler W, Rothe M, Muntau AC et al. X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype. BIOCHEM BIOPH RES CO. 2008 Dez 5;377(1):176-80. https://doi.org/10.1016/j.bbrc.2008.09.092

Bibtex

@article{5b749f2d14b147a08af7ac858b429038,
title = "X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype",
abstract = "Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we have investigated the possible role of the ABCD2 gene locus as determinant of X-ALD phenotypes. Sequence and segregation analysis of the ABCD2 gene, in a large X-ALD family with different phenotypes disclosed that the identical ABCD2 alleles were inherited in brothers affected by mild (noncerebral) versus severe (childhood cerebral) X-ALD phenotypes. Moreover, two independent association studies of ABCD2 polymorphisms and clinical phenotypes showed an even allele distribution in different X-ALD phenotypes and controls. Based on these findings ABCD2 can be excluded as a major modifier locus for clinical diversity in X-ALD. These findings are of particular importance for the attempt of pharmacological induction of ABCD2 as a possible therapeutic approach in X-ALD.",
keywords = "ATP-Binding Cassette Transporters, Adolescent, Adrenoleukodystrophy, Child, DNA Mutational Analysis, Female, Humans, Male, Mutation, Pedigree, Phenotype, Polymorphism, Single Nucleotide",
author = "Maier, {Esther M} and Mayerhofer, {Peter U} and Muriel Asheuer and Wolfgang K{\"o}hler and Martina Rothe and Muntau, {Ania C} and Roscher, {Adelbert A} and Andreas Holzinger and Patrick Aubourg and Johannes Berger",
year = "2008",
month = dec,
day = "5",
doi = "10.1016/j.bbrc.2008.09.092",
language = "English",
volume = "377",
pages = "176--80",
journal = "BIOCHEM BIOPH RES CO",
issn = "0006-291X",
publisher = "Academic Press Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

AU - Maier, Esther M

AU - Mayerhofer, Peter U

AU - Asheuer, Muriel

AU - Köhler, Wolfgang

AU - Rothe, Martina

AU - Muntau, Ania C

AU - Roscher, Adelbert A

AU - Holzinger, Andreas

AU - Aubourg, Patrick

AU - Berger, Johannes

PY - 2008/12/5

Y1 - 2008/12/5

N2 - Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we have investigated the possible role of the ABCD2 gene locus as determinant of X-ALD phenotypes. Sequence and segregation analysis of the ABCD2 gene, in a large X-ALD family with different phenotypes disclosed that the identical ABCD2 alleles were inherited in brothers affected by mild (noncerebral) versus severe (childhood cerebral) X-ALD phenotypes. Moreover, two independent association studies of ABCD2 polymorphisms and clinical phenotypes showed an even allele distribution in different X-ALD phenotypes and controls. Based on these findings ABCD2 can be excluded as a major modifier locus for clinical diversity in X-ALD. These findings are of particular importance for the attempt of pharmacological induction of ABCD2 as a possible therapeutic approach in X-ALD.

AB - Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we have investigated the possible role of the ABCD2 gene locus as determinant of X-ALD phenotypes. Sequence and segregation analysis of the ABCD2 gene, in a large X-ALD family with different phenotypes disclosed that the identical ABCD2 alleles were inherited in brothers affected by mild (noncerebral) versus severe (childhood cerebral) X-ALD phenotypes. Moreover, two independent association studies of ABCD2 polymorphisms and clinical phenotypes showed an even allele distribution in different X-ALD phenotypes and controls. Based on these findings ABCD2 can be excluded as a major modifier locus for clinical diversity in X-ALD. These findings are of particular importance for the attempt of pharmacological induction of ABCD2 as a possible therapeutic approach in X-ALD.

KW - ATP-Binding Cassette Transporters

KW - Adolescent

KW - Adrenoleukodystrophy

KW - Child

KW - DNA Mutational Analysis

KW - Female

KW - Humans

KW - Male

KW - Mutation

KW - Pedigree

KW - Phenotype

KW - Polymorphism, Single Nucleotide

U2 - 10.1016/j.bbrc.2008.09.092

DO - 10.1016/j.bbrc.2008.09.092

M3 - SCORING: Journal article

C2 - 18834860

VL - 377

SP - 176

EP - 180

JO - BIOCHEM BIOPH RES CO

JF - BIOCHEM BIOPH RES CO

SN - 0006-291X

IS - 1

ER -