Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form
Tóm tắt
Từ khóa
Tài liệu tham khảo
Chen, 1993, Galactocerebrosidase from human urine: purification and partial characterization, Biochim. Biophys. Acta, 1170, 53, 10.1016/0005-2760(93)90175-9
Chen, 1993, Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy, Hum. Mol. Genet., 2, 1841, 10.1093/hmg/2.11.1841
De Gasperi, 1996, Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy, Am. J. Hum. Genet., 59, 1233
Deane, 2011, Insights into Krabbe disease from structures of galactocerebrosidase, Proc. Natl. Acad. Sci. U. S. A., 108, 15169, 10.1073/pnas.1105639108
Debs, 2013, Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review, J. Inherit. Metab. Dis., 36, 859, 10.1007/s10545-012-9560-4
Duffner, 2009, Newborn screening for Krabbe disease: the New York state model, Pediatr. Neurol., 40, 245, 10.1016/j.pediatrneurol.2008.11.010
Duffner, 2012, Later onset phenotypes of Krabbe disease: results of the world-wide registry, Pediatr. Neurol., 46, 298, 10.1016/j.pediatrneurol.2012.02.023
Escolar, 2005, Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease, N. Engl. J. Med., 352, 2069, 10.1056/NEJMoa042604
Fu, 1999, Molecular heterogeneity of Krabbe disease, J. Inherit. Metab. Dis., 22, 155, 10.1023/A:1005449919660
Furuya, 1997, Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients, Hum. Genet., 100, 450, 10.1007/s004390050532
Harzer, 2002, Residual galactosylsphingosine (psychosine) β-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease, Clin. Chim. Acta, 317, 77, 10.1016/S0009-8981(01)00791-4
Kobayashi, 1988, The twitcher mouse. An alteration of the unmyelinated fibers in the PNS, Am. J. Pathol., 131, 308
Lee, 2010, Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones, J. Neurosci., 30, 5489, 10.1523/JNEUROSCI.6383-09.2010
Lissens, 2007, A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region, Hum. Mutat., 28, 742, 10.1002/humu.9500
Luzi, 1996, Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease, Ann. Neurol., 40, 116, 10.1002/ana.410400119
Luzi, 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, 10.1006/geno.1997.4744
Miyatake, 1972, Galactosylsphingosine galactosyl hydrolase: partial purification and properties of the enzyme in rat brain, J. Biol. Chem., 247, 5398, 10.1016/S0021-9258(20)81118-1
Nagano, 1998, Expression and processing of recombinant human galactosylceramidase, Clin. Chim. Acta, 276, 53, 10.1016/S0009-8981(98)00095-3
Nagara, 1986, The twitcher mouse: degeneration of oligodendrocytes in vitro, Brain Res., 391, 79, 10.1016/0165-3806(86)90009-X
Otomo, 2009, Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts, Mol. Genet. Metab., 98, 393, 10.1016/j.ymgme.2009.07.002
Puckett, 2012, Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards, Mol. Genet. Metab., 105, 126, 10.1016/j.ymgme.2011.10.010
Saito, 2012, Structural bases of Wolman disease and cholesteryl ester storage disease, Mol. Genet. Metab., 105, 244, 10.1016/j.ymgme.2011.11.004
Sakai, 1994, Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase, Biochem. Biophys. Res. Commun., 198, 485, 10.1006/bbrc.1994.1071
Sakai, 1994, Purification and characterization of galactocerebrosidase from human lymphocytes, J. Biochem., 116, 615, 10.1093/oxfordjournals.jbchem.a124569
Sakai, 1998, Human galactocerebrosidase gene: promoter analysis of the 5′-flanking region and structural organization, Biochim. Biophys. Acta, 1395, 62, 10.1016/S0167-4781(97)00140-1
Satoh, 1997, Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination, Neurology, 49, 1392, 10.1212/WNL.49.5.1392
Seitelberger, 1981, Demyelination and leukodystrophy at an early age (in Spanish), Bol. Estud. Med. Biol., 31, 373
Selleri, 2000, Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult and early-onset patients with Krabbe disease, J. Neurol., 247, 875, 10.1007/s004150070076
Suzuki, 1978, Enzymic diagnosis of sphingolipidoses, Methods Enzymol., 50C, 456, 10.1016/0076-6879(78)50049-9
Suzuki, 1998, Twenty five years of the “psychosine hypothesis”: a personal perspective of its history and present status, Neurochem. Res., 23, 251, 10.1023/A:1022436928925
Svennerholm, 1980, Krabbe disease: a galactosylsphingosine (psychosine) lipidosis, J. Lipid Res., 21, 53, 10.1016/S0022-2275(20)39839-4
Tanaka, 1976, Specificities of the two genetically distinct β-galactosidases in human sphingolipidoses, Arch. Biochem., 175, 332, 10.1016/0003-9861(76)90515-4
Tanaka, 1988, The twitcher mouse: accumulation of galactosylsphingosine and pathology of the sciatic nerve, Brain Res., 454, 340, 10.1016/0006-8993(88)90835-9
Tappino, 2010, Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease, Hum. Mutat., 31, 1894, 10.1002/humu.21367
Tatsumi, 1995, Molecular defects in Krabbe disease, Hum. Mol. Genet., 4, 1865, 10.1093/hmg/4.10.1865
Tokushige, 2013, Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene, Brain Dev., 35, 579, 10.1016/j.braindev.2012.08.004
Vanier, 1976, Chemical pathology of Krabbe's disease: the occurrence of psychosine and other neutral sphingoglycolipids, Adv. Exp. Med. Biol., 68, 115, 10.1007/978-1-4684-7735-1_8
Weiner, 1984, A few force field for molecular mechanical simulation of nucleic acid and proteins, J. Am. Chem. Soc., 106, 765, 10.1021/ja00315a051
Wenger, 1997, Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications, Hum. Mutat., 10, 268, 10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D
Wenger, 2000, Krabbe disease: genetic aspects and progress toward therapy, Mol. Genet. Metab., 70, 1, 10.1006/mgme.2000.2990
Wenger, 2013, Scriver's The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID)
Wiederschain, 1992, Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-β-d-galactopyranoside as fluorogenic substrate of galactocerebrocidase for the diagnosis of Krabbe disease, Clin. Chim. Acta, 205, 87, 10.1016/S0009-8981(05)80003-8
Xu, 2006, Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease and new genotype–phenotype correlation, J. Hum. Genet., 51, 548, 10.1007/s10038-006-0396-3