| 1 | GALC, GALCD
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| Krabbe disease: are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?
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| Wenger DA, Luzi P, Rafi MA.
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| Mol Genet Metab 111(3):307-8. doi: 10.1016/j.ymgme.2013.12.009. Epub 2013 Dec 19. No abstract available.
2014
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| 2 | GALC, GALCD
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| Structural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.
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| Hill CH, Graham SC, Read RJ, Deane JE.
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| Proc Natl Acad Sci U S A 110(51):20479-84. doi: 10.1073/pnas.1311990110. Epub 2013 Dec 2.
2013
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| 3 | GALC, GALCD
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| Four novel GALC gene mutations in two Chinese patients with Krabbe disease.
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| Yang Y, Ren X, Xu Q, Wang C, Liu H, He X.
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| Gene 519(2):381-4. doi: 10.1016/j.gene.2013.02.010. Epub 2013 Feb 24.
2013
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| 4 | GALC, GALCD
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| A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.
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| Kardas F, Uzak AS, Hossain MA, Sakai N, Canpolat M, Yıkılmaz A.
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| Gene 517(1):125-7. doi: 10.1016/j.gene.2012.12.040. Epub 2012 Dec 28.
2013
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| 5 | GALC, GALCD
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| Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.
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| Potter GB, Santos M, Davisson MT, Rowitch DH, Marks DL, Bongarzone ER, Petryniak MA.
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| Hum Mol Genet 22(17):3397-414. doi: 10.1093/hmg/ddt190. Epub 2013 Apr 24.
2013
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| 6 | GALC
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| The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development.
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| Santambrogio S, Ricca A, Maderna C, Ieraci A, Aureli M, Sonnino S, Kulik W, Aimar P, Bonfanti L, Martino S, Gritti A.
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| Hum Mol Genet 21(21):4732-50. doi: 10.1093/hmg/dds313. Epub 2012 Aug 1.
2012
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| 7 | GALC, GALCD
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| Insights into Krabbe disease from structures of galactocerebrosidase.
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| Deane JE, Graham SC, Kim NN, Stein PE, McNair R, Cachón-González MB, Cox TM, Read RJ.
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| Proc Natl Acad Sci U S A 108(37):15169-73. doi: 10.1073/pnas.1105639108. Epub 2011 Aug 29.
2011
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| 8 | GALC, GALCD
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| Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
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| 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.
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| Hum Mutat 31(12):E1894-914. doi: 10.1002/humu.21367.
2010
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| 9 | GALC
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| The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche.
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| Visigalli I, Ungari S, Martino S, Park H, Cesani M, Gentner B, Sergi Sergi L, Orlacchio A, Naldini L, Biffi A.
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| Blood 116(11):1857-66. doi: 10.1182/blood-2009-12-256461. Epub 2010 May 28.
2010
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| 10 | GALC, GALCD
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| Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.
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| Lee WC, Kang D, Causevic E, Herdt AR, Eckman EA, Eckman CB.
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| J Neurosci 30(16):5489-97. doi: 10.1523/JNEUROSCI.6383-09.2010.
2010
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| 11 | GALC, GALCD
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| Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients.
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| Formichi P, Radi E, Battisti C, Pasqui A, Pompella G, Lazzerini PE, Laghi-Pasini F, Leonini A, Di Stefano A, Federico A.
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| J Cell Physiol 212(3):737-43.
2007
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| 12 | GALC, GALCD
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| Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD).
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| Lee WC, Tsoi YK, Dickey CA, Delucia MW, Dickson DW, Eckman CB.
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| Neurobiol Dis 23(2):273-80. Epub 2006 Jun 8.
2006
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| 13 | GALC
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| Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells.
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| Beier UH, Görögh T.
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| Int J Cancer 115(1):6-10. Review.
2005
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| 14 | GALC, GALCD
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| Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease.
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| Harzer K, Knoblich R, Rolfs A, Bauer P, Eggers J.
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| Clin Chim Acta 317(1-2):77-84.
2002
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| 15 | GALC, GALCD
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| Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.
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| Rafi MA, et al.
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| Hum Genet 97 : 304-308. 1996
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| 16 | GALC, GALCD
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| Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.
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| Luzi P, et al.
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| Ann Neurol 40 : 116-119. 1996
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| 17 | GALC, GALCD
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| Characterization of the large deletion in the GALC gene found in patients with Krabbe disease.
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| Luzi P, et al.
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| Hum Mol Genet 4 : 2335-2338. 1995
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| 18 | GALC
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| Structure and organization of the human galactocerebrosidase (GALC) gene.
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| Luzi P, et al.
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| Genomics 26 : 407-409. 1995
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| 19 | GALC, GALCD
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| A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.
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| Rafi MA, et al.
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| Hum Mol Genet 4 : 1285-1289. 1995
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| 20 | GALC
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| Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization.
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| Cannizzaro LA, et al.
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| Cytogenet Cell Genet 66 : 244-245. 1994
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| 21 | GALC
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| Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.
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| Chen YQ, et al.
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| Hum Mol Genet 2 : 1841-1845. 1993
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| 22 | GALC
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| Localization of Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis.
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| Knowlton RG, et al.
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| Am J Hum Genet 53 : 1024. 1993
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| 23 | GALC
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| Galactocerebrosidase activity in somatic cell hybrids derived from twitcher mouse/control human fibroblats is associated with human chromosome 17.
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| Lyerla TA, et al.
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| Am J Hum Genet 44 : 198-207. 1989
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