Gene Review:
ABCA4 - ATP-binding cassette, sub-family A (ABC1),...
Homo sapiens
Synonyms:
ABC10, ABCR, ARMD2, ATP-binding cassette sub-family A member 4, CORD3, ...
Pang,
Lam,
Schmitz,
Kaminski,
Cideciyan,
Aleman,
Swider,
Schwartz,
Steinberg,
Brucker,
Maguire,
Bennett,
Stone,
Jacobson,
Shastry,
Chung,
Lotery,
Maugeri,
Flothmann,
Hemmrich,
Ingvast,
Jorge,
Paloma,
Patel,
Rozet,
Tammur,
Testa,
Balcells,
Bird,
Brunner,
Hoyng,
Metspalu,
Simonelli,
Allikmets,
Bhattacharya,
D'Urso,
Gonzàlez-Duarte,
Kaplan,
te Meerman,
Santos,
Schwartz,
Van Camp,
Wadelius,
Weber,
Cremers,
Eksandh,
Ekström,
Abrahamson,
Bauer,
Andréasson,
Fitzgerald,
Okuhira,
Short,
Manning,
Bell,
Freeman,
- Biochemical defects in ABCR protein variants associated with human retinopathies. Sun, H., Smallwood, P.M., Nathans, J. Nat. Genet. (2000)
- Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy. Schmidt, S., Postel, E.A., Agarwal, A., Allen, I.C., Walters, S.N., De la Paz, M.A., Scott, W.K., Haines, J.L., Pericak-Vance, M.A., Gilbert, J.R. Invest. Ophthalmol. Vis. Sci. (2003)
- Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Guymer, R.H., Héon, E., Lotery, A.J., Munier, F.L., Schorderet, D.F., Baird, P.N., McNeil, R.J., Haines, H., Sheffield, V.C., Stone, E.M. Arch. Ophthalmol. (2001)
- Cellular mechanisms of retinal degenerations: RPE65, ABCA4, RDS, and bicarbonate transporter genes as examples. Bok, D. Retina (Philadelphia, Pa.) (2005)
- Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Annilo, T., Shulenin, S., Chen, Z.Q., Arnould, I., Prades, C., Lemoine, C., Maintoux-Larois, C., Devaud, C., Dean, M., Denèfle, P., Rosier, M. Cytogenet. Genome Res. (2002)
- Visual motion perception after brain damage: II. Deficits in form-from-motion perception. Schenk, T., Zihl, J. Neuropsychologia. (1997)
- Modeling the influence of body size on V(O2) peak: effects of model choice and body composition. Batterham, A.M., Vanderburgh, P.M., Mahar, M.T., Jackson, A.S. J. Appl. Physiol. (1999)
- Family history of alcoholism, alcohol use disorders and the five-factor model of personality. Martin, E.D., Sher, K.J. J. Stud. Alcohol (1994)
- Body composition in early onset eating disorders. Nicholls, D., Wells, J.C., Singhal, A., Stanhope, R. European journal of clinical nutrition. (2002)
- Validation of a Chinese version of the Medical Outcomes Study Family and Marital Functioning Measures in patients with SLE. Thumboo, J., Feng, P.H., Soh, C.H., Boey, M.L., Thio, S., Fong, K.Y. Lupus (2000)
- ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Molday, L.L., Rabin, A.R., Molday, R.S. Nat. Genet. (2000)
- Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Weng, J., Mata, N.L., Azarian, S.M., Tzekov, R.T., Birch, D.G., Travis, G.H. Cell (1999)
- Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Martínez-Mir, A., Paloma, E., Allikmets, R., Ayuso, C., del Rio, T., Dean, M., Vilageliu, L., Gonzàlez-Duarte, R., Balcells, S. Nat. Genet. (1998)
- Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? Shroyer, N.F., Lewis, R.A., Lupski, J.R. Am. J. Ophthalmol. (2001)
- Evaluation of the ABCR and glutathione peroxidase-3 genes in familial and sporadic cases of exudative age-related macular degeneration. Shastry, B.S. Int. J. Mol. Med. (2004)
- Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner's syndrome. The impact of sex hormone replacement. Gravholt, C.H., Naeraa, R.W., Nyholm, B., Gerdes, L.U., Christiansen, E., Schmitz, O., Christiansen, J.S. Diabetes Care (1998)
- The effect of sibutramine on resting energy expenditure and adrenaline-induced thermogenesis in obese females. Walsh, K.M., Leen, E., Lean, M.E. Int. J. Obes. Relat. Metab. Disord. (1999)
- ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Wiszniewski, W., Zaremba, C.M., Yatsenko, A.N., Jamrich, M., Wensel, T.G., Lewis, R.A., Lupski, J.R. Hum. Mol. Genet. (2005)
- An analysis of allelic variation in the ABCA4 gene. Webster, A.R., Héon, E., Lotery, A.J., Vandenburgh, K., Casavant, T.L., Oh, K.T., Beck, G., Fishman, G.A., Lam, B.L., Levin, A., Heckenlively, J.R., Jacobson, S.G., Weleber, R.G., Sheffield, V.C., Stone, E.M. Invest. Ophthalmol. Vis. Sci. (2001)
- The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Maugeri, A., Flothmann, K., Hemmrich, N., Ingvast, S., Jorge, P., Paloma, E., Patel, R., Rozet, J.M., Tammur, J., Testa, F., Balcells, S., Bird, A.C., Brunner, H.G., Hoyng, C.B., Metspalu, A., Simonelli, F., Allikmets, R., Bhattacharya, S.S., D'Urso, M., Gonzàlez-Duarte, R., Kaplan, J., te Meerman, G.J., Santos, R., Schwartz, M., Van Camp, G., Wadelius, C., Weber, B.H., Cremers, F.P. Eur. J. Hum. Genet. (2002)
- Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family. Simonelli, F., Testa, F., Zernant, J., Nesti, A., Rossi, S., Rinaldi, E., Allikmets, R. Ophthalmic Res. (2004)
- Abca7 null mice retain normal macrophage phosphatidylcholine and cholesterol efflux activity despite alterations in adipose mass and serum cholesterol levels. Kim, W.S., Fitzgerald, M.L., Kang, K., Okuhira, K., Bell, S.A., Manning, J.J., Koehn, S.L., Lu, N., Moore, K.J., Freeman, M.W. J. Biol. Chem. (2005)
- Retinal-specific ATP-binding cassette transporter (ABCR/ABCA4) is expressed at the choroid plexus in rat brain. Bhongsatiern, J., Ohtsuki, S., Tachikawa, M., Hori, S., Terasaki, T. J. Neurochem. (2005)
- Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Cideciyan, A.V., Aleman, T.S., Swider, M., Schwartz, S.B., Steinberg, J.D., Brucker, A.J., Maguire, A.M., Bennett, J., Stone, E.M., Jacobson, S.G. Hum. Mol. Genet. (2004)
- ATP-binding cassette transporter A1 contains a novel C-terminal VFVNFA motif that is required for its cholesterol efflux and ApoA-I binding activities. Fitzgerald, M.L., Okuhira, K., Short, G.F., Manning, J.J., Bell, S.A., Freeman, M.W. J. Biol. Chem. (2004)
- ABCA2: a candidate regulator of neural transmembrane lipid transport. Schmitz, G., Kaminski, W.E. Cell. Mol. Life Sci. (2002)
- Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. Suárez, T., Biswas, S.B., Biswas, E.E. J. Biol. Chem. (2002)
- Homozygous Null Mutations in the ABCA4 Gene in Two Families With Autosomal Recessive Retinal Dystrophy. Singh, H.P., Jalali, S., Hejtmancik, J.F., Kannabiran, C. Am. J. Ophthalmol. (2006)
- Expression profiling of ABC transporters in a drug-resistant breast cancer cell line using AmpArray. Liu, Y., Peng, H., Zhang, J.T. Mol. Pharmacol. (2005)
- The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration. Zhang, K., Kniazeva, M., Hutchinson, A., Han, M., Dean, M., Allikmets, R. Genomics (1999)
- The expanding roles of ABCA4 and CRB1 in inherited blindness. Cremers, F.P., Maugeri, A., den Hollander, A.I., Hoyng, C.B. Novartis Found. Symp. (2004)
- Differential occurrence of mutations causative of eye diseases in the Chinese population. Pang, C.P., Lam, D.S. Hum. Mutat. (2002)
- Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). Eksandh, L., Ekström, U., Abrahamson, M., Bauer, B., Andréasson, S. Acta ophthalmologica Scandinavica. (2001)
- Genetics update of macular diseases. Chung, M., Lotery, A.J. Ophthalmology clinics of North America. (2002)
- Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites. Bungert, S., Molday, L.L., Molday, R.S. J. Biol. Chem. (2001)