Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation
Tóm tắt
Từ khóa
Tài liệu tham khảo
Chen YQ, Rafi MA, de Gala G, Wenger DA (1993) Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet 2:1841–1845
Fu L, Inui K, Nishigaki T, Tatsumi N, Tsukamoto H, Kokubu C, Muramatsu T, Okada S (1999) Molecular heterogeneity of Krabbe disease. J Inherit Metab Dis 22:155–162
Furuya H, Kukita Y, Nagano S, Sakai Y, Yamashita Y, Fukuyama H, Inatomi Y, Saito Y, Koike R, Tsuji S, Fukumaki Y, Hayashi K, Kobayashi T (1997) Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Hum Genet 100:450–456
Harzer K, Knoblich R, Rolfs A, Bauer P, Eggers J (2002) Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. Clin Chim Acta 317:77–84
Kukita Y, Furuya H, Kobayashi T, Sakai N, Hayashi K (1997-98) Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. Genet Test 1:217–223
Luzi P, Rafi MA, Wenger DA (1995) Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Hum Mol Genet 4:2335–2338
Luzi P, Rafi MA, Victoria T, Baskin GB, Wenger DA (1997) Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. Genomics 42:319–324
Rafi MA, Luzi P, Chen YQ, Wenger DA (1995) A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum Mol Genet 4:1285–1289
Sakai N, Inui K, Fujii N, Fukushima H, Nishimoto J, Yanagihara I, Isegawa Y, Iwamatsu A, Okada S (1994) Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem Biophys Res Commun 198:485–491
Satoh JI, Tokumoto H, Kurohara K, Yukitake M, Matsui M, Kuroda Y, Yamamoto T, Furuya H, Shinnoh N, Kobayashi T, Kukita Y, Hayashi K (1997) Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination. Neurology 49:1392–1399
Tatsumi N, Inui K, Sakai N, Fukushima H, Nishimoto J, Yanagihara I, Nishigaki T, Tsukamoto H, Fu L, Taniike M, Okada S (1995) Molecular defects in Krabbe disease. Hum Mol Genet 4:1865–1868
Wenger DA, Rafi MA, Luzi P (1997) Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Hum Mutat 10:268–279
Wenger DA, Suzuki Ku, Suzuki Y, Suzuki Ki (2001) Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease). In: Scriver CR, Beaudet AL, Sly WS,Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw–Hill, New York, pp 3669–3694