ArticleProceedings of the National Academy of Sciences of the United States of America1996
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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Who cites it
60 citing papers in PubMed, 225 citations in OpenAlex.
- Structural basis for LMBD1-dependent trafficking and cobalamin export of ABCD4.Nature communications · 2026Article
- Structural insights into human ABCD3-mediated peroxisomal acyl-CoA translocation.Cell discovery · 2024Article
- Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular Mechanisms.Journal of biotechnology and biomedicine · 2024Article
- Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy.Acta neuropathologica communications · 2023Article
- Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation.Frontiers in molecular neuroscience · 2023Article
- Peroxisomal defects in microglial cells induce a disease-associated microglial signature.Frontiers in molecular neuroscience · 2023Article
- Article
- Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.Nature communications · 2022Article
- Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment.Communications biology · 2022Article
- Peroxisomal ABC Transporters: An Update.International journal of molecular sciences · 2021Review
- Evolution of adrenoleukodystrophy model systems.Journal of inherited metabolic disease · 2021Review
- Acyl-CoA thioesterase activity of peroxisomal ABC protein ABCD1 is required for the transport of very long-chain acyl-CoA into peroxisomes.Scientific reports · 2021Article
- Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD Transporters.Frontiers in cell and developmental biology · 2021Article
- Peroxisomal Cofactor Transport.Biomolecules · 2020Review
- Plant peroxisomal solute transporter proteins.Journal of integrative plant biology · 2019Review
- Predictive Structure and Topology of Peroxisomal ATP-Binding Cassette (ABC) Transporters.International journal of molecular sciences · 2017Article
- Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin BThe Journal of biological chemistry · 2017Article
- Peroxisomal ATP-binding cassette transporters form mainly tetramers.The Journal of biological chemistry · 2017Article
- MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy.Molecular neurobiology · 2017Article
- Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.Scientific reports · 2016Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adrenoleukodystrophy (ALD), a severe demyelinating disease, is caused by mutations in a gene coding for a peroxisomal membrane protein (ALDP), which belongs to the superfamily of ATP binding cassette (ABC) transporters and has the structure of a half transporter. ALDP showed 38% sequence identity with another peroxisomal membrane protein, PMP70, up to now its closest homologue. We describe here the cloning and characterization of a mouse ALD-related gene (ALDR), which codes for a protein with 66% identity with ALDP and shares the same half transporter structure. The ALDR protein was overexpressed in COS cells and was found to be associated with the peroxisomes. The ALD and ALDR genes show overlapping but clearly distinct expression patterns in mouse and may thus play similar but nonequivalent roles. The ALDR gene, which appears highly conserved in man, is a candidate for being a modifier gene that could account for some of the extreme phenotypic variability of ALD. The ALDR gene is also a candidate for being implicated in one of the complementation groups of Zellweger syndrome, a genetically heterogeneous disorder of peroxisome biogenesis, rare cases of which were found to be associated with mutations in the PMP70 (PXMP1) gene.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.