359 related articles for article (PubMed ID: 26865610)
1. Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.
Shin D; Feltri ML; Wrabetz L
J Neurosci; 2016 Feb; 36(6):1858-70. PubMed ID: 26865610
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease.
Harzer K; Knoblich R; Rolfs A; Bauer P; Eggers J
Clin Chim Acta; 2002 Mar; 317(1-2):77-84. PubMed ID: 11814461
[TBL] [Abstract][Full Text] [Related]
4. Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.
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
Hum Genet; 1997 Sep; 100(3-4):450-6. PubMed ID: 9272171
[TBL] [Abstract][Full Text] [Related]
5. Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.
Iacono D; Koga S; Peng H; Manavalan A; Daiker J; Castanedes-Casey M; Martin NB; Herdt AR; Gelb MH; Dickson DW; Lee CW
Neurobiol Dis; 2022 Nov; 174():105862. PubMed ID: 36113749
[TBL] [Abstract][Full Text] [Related]
6. Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy.
Matthes F; Andersson C; Stein A; Eistrup C; Fogh J; Gieselmann V; Wenger DA; Matzner U
Exp Neurol; 2015 Sep; 271():36-45. PubMed ID: 25956830
[TBL] [Abstract][Full Text] [Related]
7. Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.
Lee WC; Kang D; Causevic E; Herdt AR; Eckman EA; Eckman CB
J Neurosci; 2010 Apr; 30(16):5489-97. PubMed ID: 20410102
[TBL] [Abstract][Full Text] [Related]
8. Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells.
Rafi MA; Fugaro J; Amini S; Luzi P; de Gala G; Victoria T; Dubell C; Shahinfar M; Wenger DA
Biochem Mol Med; 1996 Aug; 58(2):142-50. PubMed ID: 8812733
[TBL] [Abstract][Full Text] [Related]
9. Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease.
Ribbens JJ; Moser AB; Hubbard WC; Bongarzone ER; Maegawa GH
Mol Genet Metab; 2014 Feb; 111(2):172-83. PubMed ID: 24094551
[TBL] [Abstract][Full Text] [Related]
10. Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.
Krägeloh-Mann I; Harzer K; Rostásy K; Beck-Wödl S; Bornemann A; Böhringer J; Bevot A; Beck V; Merkel G; Pechan M
Eur J Paediatr Neurol; 2017 May; 21(3):522-529. PubMed ID: 28109651
[TBL] [Abstract][Full Text] [Related]
11. Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes.
Mangiameli E; Cecchele A; Morena F; Sanvito F; Matafora V; Cattaneo A; Della Volpe L; Gnani D; Paulis M; Susani L; Martino S; Di Micco R; Bachi A; Gritti A
Stem Cell Reports; 2021 Jun; 16(6):1478-1495. PubMed ID: 33989519
[TBL] [Abstract][Full Text] [Related]
12. AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2.
Lin D; Fantz CR; Levy B; Rafi MA; Vogler C; Wenger DA; Sands MS
Mol Ther; 2005 Sep; 12(3):422-30. PubMed ID: 15996520
[TBL] [Abstract][Full Text] [Related]
13. Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction.
Weinstock NI; Shin D; Dhimal N; Hong X; Irons EE; Silvestri NJ; Reed CB; Nguyen D; Sampson O; Cheng YC; Lau JTY; Bongarzone ER; Kofler J; Escolar ML; Gelb MH; Wrabetz L; Feltri ML
Neuron; 2020 Jul; 107(1):65-81.e9. PubMed ID: 32375064
[TBL] [Abstract][Full Text] [Related]
14. Murine, canine and non-human primate models of Krabbe disease.
Wenger DA
Mol Med Today; 2000 Nov; 6(11):449-51. PubMed ID: 11074371
[TBL] [Abstract][Full Text] [Related]
15. Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy.
Feltri ML; Weinstock NI; Favret J; Dhimal N; Wrabetz L; Shin D
Glia; 2021 Oct; 69(10):2309-2331. PubMed ID: 33851745
[TBL] [Abstract][Full Text] [Related]
16. Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.
Zerkaoui M; Ratbi I; Castellotti B; Gellera C; Lyahyai J; Kriouile Y; Sefiani A
BMC Pediatr; 2015 Nov; 15():182. PubMed ID: 26567009
[TBL] [Abstract][Full Text] [Related]
17. A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
Matsuda J; Vanier MT; Saito Y; Tohyama J; Suzuki K; Suzuki K
Hum Mol Genet; 2001 May; 10(11):1191-9. PubMed ID: 11371512
[TBL] [Abstract][Full Text] [Related]
18. Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
Spratley SJ; Hill CH; Viuff AH; Edgar JR; Skjødt K; Deane JE
Traffic; 2016 Aug; 17(8):908-22. PubMed ID: 27126738
[TBL] [Abstract][Full Text] [Related]
19. Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.
Luzi P; Rafi MA; Wenger DA
Ann Neurol; 1996 Jul; 40(1):116-9. PubMed ID: 8687180
[TBL] [Abstract][Full Text] [Related]
20. Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.
Jang DS; Ye W; Guimei T; Solomon M; Southall N; Hu X; Marugan J; Ferrer M; Maegawa GH
J Neurosci Res; 2016 Nov; 94(11):1231-45. PubMed ID: 27638606
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
