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2. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Rafi MA; Luzi P; Chen YQ; Wenger DA Hum Mol Genet; 1995 Aug; 4(8):1285-9. PubMed ID: 7581365 [TBL] [Abstract][Full Text] [Related]
3. Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. Hossain MA; Otomo T; Saito S; Ohno K; Sakuraba H; Hamada Y; Ozono K; Sakai N Gene; 2014 Jan; 534(2):144-54. PubMed ID: 24252386 [TBL] [Abstract][Full Text] [Related]
5. Four novel GALC gene mutations in two Chinese patients with Krabbe disease. Yang Y; Ren X; Xu Q; Wang C; Liu H; He X Gene; 2013 May; 519(2):381-4. PubMed ID: 23462331 [TBL] [Abstract][Full Text] [Related]
6. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Victoria T; Rafi MA; Wenger DA Genomics; 1996 May; 33(3):457-62. PubMed ID: 8661004 [TBL] [Abstract][Full Text] [Related]
7. Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. Xu C; Sakai N; Taniike M; Inui K; Ozono K J Hum Genet; 2006; 51(6):548-554. PubMed ID: 16607461 [TBL] [Abstract][Full Text] [Related]
8. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Chen YQ; Rafi MA; de Gala G; Wenger DA Hum Mol Genet; 1993 Nov; 2(11):1841-5. PubMed ID: 8281145 [TBL] [Abstract][Full Text] [Related]
9. Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. Kukita Y; Furuya H; Kobayashi T; Sakai N; Hayashi K Genet Test; 1997-1998; 1(3):217-23. PubMed ID: 10464649 [TBL] [Abstract][Full Text] [Related]
10. Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. Sakai N; Inui K; Fujii N; Fukushima H; Nishimoto J; Yanagihara I; Isegawa Y; Iwamatsu A; Okada S Biochem Biophys Res Commun; 1994 Jan; 198(2):485-91. PubMed ID: 8297359 [TBL] [Abstract][Full Text] [Related]
11. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Luzi P; Rafi MA; Wenger DA Hum Mol Genet; 1995 Dec; 4(12):2335-8. PubMed ID: 8634707 [TBL] [Abstract][Full Text] [Related]
13. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. Luzi P; Rafi MA; Victoria T; Baskin GB; Wenger DA Genomics; 1997 Jun; 42(2):319-24. PubMed ID: 9192853 [TBL] [Abstract][Full Text] [Related]
14. A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. Lissens W; Arena A; Seneca S; Rafi M; Sorge G; Liebaers I; Wenger D; Fiumara A Hum Mutat; 2007 Jul; 28(7):742. PubMed ID: 17579360 [TBL] [Abstract][Full Text] [Related]
15. Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). Luzi P; Rafi MA; Zaka M; Curtis M; Vanier MT; Wenger DA Mol Genet Metab; 2001 Jul; 73(3):211-23. PubMed ID: 11461188 [TBL] [Abstract][Full Text] [Related]
16. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Tappino B; Biancheri R; Mort M; Regis S; Corsolini F; Rossi A; Stroppiano M; Lualdi S; Fiumara A; Bembi B; Di Rocco M; Cooper DN; Filocamo M Hum Mutat; 2010 Dec; 31(12):E1894-914. PubMed ID: 20886637 [TBL] [Abstract][Full Text] [Related]
17. Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). Gucev Z; Tasic V Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2015; 36(3):99-101. PubMed ID: 27442402 [TBL] [Abstract][Full Text] [Related]
18. [From gene to disease; Krabbe disease and galactosylceramidase deficiency]. Kleijer WJ; van Diggelen OP; Halley DJ; van der Ploeg AT; Mancini GM Ned Tijdschr Geneeskd; 2004 Apr; 148(17):826-8. PubMed ID: 15141649 [TBL] [Abstract][Full Text] [Related]
19. Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer. Gama Sosa MA; de Gasperi R; Undevia S; Yeretsian J; Rouse SC; Lyerla TA; Kolodny EH Biochem Biophys Res Commun; 1996 Jan; 218(3):766-71. PubMed ID: 8579588 [TBL] [Abstract][Full Text] [Related]
20. Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD). Lee WC; Tsoi YK; Dickey CA; Delucia MW; Dickson DW; Eckman CB Neurobiol Dis; 2006 Aug; 23(2):273-80. PubMed ID: 16759875 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]