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Late onset neurological phenotype of the X-ALD gene inactivation in mice

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Late onset neurological phenotype of the X-ALD gene inactivation in mice : a mouse model for adrenomyeloneuropathy. / Pujol, Aurora; Hindelang, Colette; Callizot, Noëlle; Bartsch, Udo; Schachner, Melitta; Mandel, Jean Louis.

In: HUM MOL GENET, Vol. 11, No. 5, 01.03.2002, p. 499-505.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Pujol, A, Hindelang, C, Callizot, N, Bartsch, U, Schachner, M & Mandel, JL 2002, 'Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy', HUM MOL GENET, vol. 11, no. 5, pp. 499-505.

APA

Pujol, A., Hindelang, C., Callizot, N., Bartsch, U., Schachner, M., & Mandel, J. L. (2002). Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. HUM MOL GENET, 11(5), 499-505.

Vancouver

Pujol A, Hindelang C, Callizot N, Bartsch U, Schachner M, Mandel JL. Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. HUM MOL GENET. 2002 Mar 1;11(5):499-505.

Bibtex

@article{d372e901a361461c9d0ac5a957c9857e,
title = "Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy",
abstract = "Adrenomyeloneuropathy (AMN) and cerebral childhood adrenoleukodystrophy (CCALD) are the main phenotypic variants of an X-linked inherited metabolic disorder causing demyelination, X-linked adrenoleukodystrophy (X-ALD). It is caused by mutations in the ABCD1 (ALD) gene encoding a peroxisomal ABC transporter. Inactivation of the murine ALD gene does not lead to a detectable clinical phenotype in mice up to 6 months, and no cerebral pathology resembling the childhood form (CCALD) was observed. In this work, we show that older ALD-deficient mice exhibit an abnormal neurological and behavioral phenotype, starting at around 15 months. This is correlated with slower nerve conduction, and with myelin and axonal anomalies detectable in the spinal cord and sciatic nerve, but not in brain. The phenotype of ALD-deficient mice mimics features of human AMN, thus providing a model for investigating the pathogenesis of this disease.",
keywords = "ATP-Binding Cassette Transporters, Adrenoleukodystrophy, Age of Onset, Animals, Axons, Behavior, Animal, Chemokine CCL22, Chemokines, CC, Disease Models, Animal, Gene Silencing, Male, Mice, Mice, Knockout, Mutation, Myelin Sheath, Neural Conduction, Phenotype, Sciatic Nerve, Spinal Cord, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't",
author = "Aurora Pujol and Colette Hindelang and No{\"e}lle Callizot and Udo Bartsch and Melitta Schachner and Mandel, {Jean Louis}",
year = "2002",
month = mar,
day = "1",
language = "English",
volume = "11",
pages = "499--505",
journal = "HUM MOL GENET",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "5",

}

RIS

TY - JOUR

T1 - Late onset neurological phenotype of the X-ALD gene inactivation in mice

T2 - a mouse model for adrenomyeloneuropathy

AU - Pujol, Aurora

AU - Hindelang, Colette

AU - Callizot, Noëlle

AU - Bartsch, Udo

AU - Schachner, Melitta

AU - Mandel, Jean Louis

PY - 2002/3/1

Y1 - 2002/3/1

N2 - Adrenomyeloneuropathy (AMN) and cerebral childhood adrenoleukodystrophy (CCALD) are the main phenotypic variants of an X-linked inherited metabolic disorder causing demyelination, X-linked adrenoleukodystrophy (X-ALD). It is caused by mutations in the ABCD1 (ALD) gene encoding a peroxisomal ABC transporter. Inactivation of the murine ALD gene does not lead to a detectable clinical phenotype in mice up to 6 months, and no cerebral pathology resembling the childhood form (CCALD) was observed. In this work, we show that older ALD-deficient mice exhibit an abnormal neurological and behavioral phenotype, starting at around 15 months. This is correlated with slower nerve conduction, and with myelin and axonal anomalies detectable in the spinal cord and sciatic nerve, but not in brain. The phenotype of ALD-deficient mice mimics features of human AMN, thus providing a model for investigating the pathogenesis of this disease.

AB - Adrenomyeloneuropathy (AMN) and cerebral childhood adrenoleukodystrophy (CCALD) are the main phenotypic variants of an X-linked inherited metabolic disorder causing demyelination, X-linked adrenoleukodystrophy (X-ALD). It is caused by mutations in the ABCD1 (ALD) gene encoding a peroxisomal ABC transporter. Inactivation of the murine ALD gene does not lead to a detectable clinical phenotype in mice up to 6 months, and no cerebral pathology resembling the childhood form (CCALD) was observed. In this work, we show that older ALD-deficient mice exhibit an abnormal neurological and behavioral phenotype, starting at around 15 months. This is correlated with slower nerve conduction, and with myelin and axonal anomalies detectable in the spinal cord and sciatic nerve, but not in brain. The phenotype of ALD-deficient mice mimics features of human AMN, thus providing a model for investigating the pathogenesis of this disease.

KW - ATP-Binding Cassette Transporters

KW - Adrenoleukodystrophy

KW - Age of Onset

KW - Animals

KW - Axons

KW - Behavior, Animal

KW - Chemokine CCL22

KW - Chemokines, CC

KW - Disease Models, Animal

KW - Gene Silencing

KW - Male

KW - Mice

KW - Mice, Knockout

KW - Mutation

KW - Myelin Sheath

KW - Neural Conduction

KW - Phenotype

KW - Sciatic Nerve

KW - Spinal Cord

KW - Comparative Study

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

M3 - SCORING: Journal article

C2 - 11875044

VL - 11

SP - 499

EP - 505

JO - HUM MOL GENET

JF - HUM MOL GENET

SN - 0964-6906

IS - 5

ER -