The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
Open accessAbstract
Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI skin. ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related functions as lipid transporters. ABCA3 is involved in lipid secretion via LGs from alveolar type II cells, and missense mutations in ABCA12 have been reported to cause lamellar ichthyosis type 2, a milder form of ichthyosis. Therefore, we hypothesized that HI might be caused by mutations that lead to serious ABCA12 defects. We identify 5 distinct ABCA12 mutations, either in a compound heterozygous or homozygous state, in patients from 4 HI families. All the mutations resulted in truncation or deletion of highly conserved regions of ABCA12. Immunoelectron microscopy revealed that ABCA12 localized to LGs in normal epidermal keratinocytes. We confirmed that ABCA12 defects cause congested lipid secretion in cultured HI keratinocytes and succeeded in obtaining the recovery of LG lipid secretion after corrective gene transfer of ABCA12. We concluded that ABCA12 works as an epidermal keratinocyte lipid transporter and that defective ABCA12 results in a loss of the skin lipid barrier, leading to HI. Our findings not only allow DNA-based early prenatal diagnosis but also suggest the possibility of gene therapy for HI.
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Cites
ABC Transporters: From Microorganisms to Man
Higgins, C. F. (1992) · Annual Review of Cell Biology · doi:10.1146/annurev.cb.08.110192.000435 · Cited by 3,985
The Human ATP-Binding Cassette (ABC) Transporter Superfamily
Dean, M., Rzhetsky, A., & Allikmets, R. (2001) · Genome Research · doi:10.1101/gr.184901 · Cited by 1,748
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., et al. (1999) · Nature Genetics · doi:10.1038/11905 · Cited by 1,687
Mammalian ABC Transporters in Health and Disease
Borst, P., & Elferink, R. O. (2002) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.71.102301.093055 · Cited by 1,571
Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0397-236 · Cited by 1,435 · cited 2×
“The ABCA subclass has received considerable attention (14) because mutations in these genes have been implicated in several human genetic diseases (15–19).”
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
Rust, S., Rosier, M., Funke, H., Real, J., Amoura, Z., Piette, J.-C., Deleuze, J.-F., Brewer, H. B., Duverger, N., Denèfle, P., et al. (1999) · Nature Genetics · doi:10.1038/11921 · Cited by 1,433
The human ATP-binding cassette (ABC) transporter superfamily
Dean, M., Hamon, Y., & Chimini, G. (2001) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)31588-1 · Cited by 1,302
The Human ATP-Binding Cassette (ABC) Transporter Superfamily
Dean, M. (2001) · Genome Research · doi:10.1101/gr.gr-1649r · Cited by 1,113
Weng, J., Mata, N. L., Azarian, S. M., Tzekov, R. T., Birch, D. G., & Travis, G. H. (1999) · Cell · doi:10.1016/s0092-8674(00)80602-9 · Cited by 881 · cited 2×
“ABCA1 and ABCA4 are suspected transmembrane transporters for intracellular cholesterol/phospholipids (23–25) and protonated N -retinylidenephosphatidylethanolamines (26), respectively.”
Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration
Allikmets, R., Shroyer, N. F., Singh, N., Seddon, J. M., Lewis, R. A., Bernstein, P. S., Peiffer, A., Zabriskie, N. A., Li, Y., Hutchinson, A., et al. (1997) · Science · doi:10.1126/science.277.5333.1805 · Cited by 880
Cited by
Role of lipids in the formation and maintenance of the cutaneous permeability barrier
Feingold, K. R., & Elias, P. M. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2013.11.007 · Cited by 383
Highly effective SNP-based association mapping and management of recessive defects in livestock
Charlier, C., Coppieters, W., Rollin, F., Desmecht, D., Agerholm, J. S., Cambisano, N., Carta, E., Dardano, S., Dive, M., Fasquelle, C., et al. (2008) · Nature Genetics · doi:10.1038/ng.96 · Cited by 329
Metabolism of Very Long-Chain Fatty Acids: Genes and Pathophysiology
Sassa, T., & Kihara, A. (2014) · Biomolecules & Therapeutics · doi:10.4062/biomolther.2014.017 · Cited by 302
Tsybovsky, Y., Molday, R. S., & Palczewski, K. (2010) · Advances in Experimental Medicine and Biology · doi:10.1007/978-1-4419-5635-4_8 · Cited by 200
Molday, R. S., Zhong, M., & Quazi, F. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2009.02.004 · Cited by 182
Metadata
- Authors
- Akiyama, M.
- Venue
- Journal of Clinical Investigation
- Published
- 2005-07-01
- Volume
- 115
- Issue
- 7
- Pages
- 1777-1784
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2158531928
- Cited by
- 396
- References
- 34
- FWCI
- 13.44
- Type
- journal article
- Language
- en
- Open access
- bronze
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