| Deficiency of galactosyl-ceramidase in adult oligodendrocytes worsens disease severity during chronic experimental allergic encephalomyelitis. | Deficiency of galactosyl-ceramidase in adult oligodendrocytes worsens disease severity during chronic experimental allergic encephalomyelitis.
Saldivia N, Heller G, Zelada D, Whitehair J, Venkat N, Konjeti A, Savitzky R, Samano S, Simchuk D, van Breemen R, Givogri MI, Bongarzone ER., Free PMC Article | 10/25/2024 |
| Perinatal loss of galactosylceramidase in both oligodendrocytes and microglia is crucial for the pathogenesis of Krabbe disease in mice. | Perinatal loss of galactosylceramidase in both oligodendrocytes and microglia is crucial for the pathogenesis of Krabbe disease in mice.
Favret J, Nawaz MH, Patel M, Khaledi H, Gelb M, Shin D., | 07/29/2024 |
| Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration. | Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration.
Kreher C, Favret J, Weinstock NI, Maulik M, Hong X, Gelb MH, Wrabetz L, Feltri ML, Shin D., Free PMC Article | 07/9/2022 |
| Visual System Impairment in a Mouse Model of Krabbe Disease: The Twitcher Mouse. | Visual System Impairment in a Mouse Model of Krabbe Disease: The Twitcher Mouse.
Tonazzini I, Cerri C, Del Grosso A, Antonini S, Allegra M, Caleo M, Cecchini M., Free PMC Article | 06/26/2021 |
| Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease. | Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.
Weinstock NI, Kreher C, Favret J, Nguyen D, Bongarzone ER, Wrabetz L, Feltri ML, Shin D., Free PMC Article | 11/21/2020 |
| Data show that transgenic galactocerebrosidase (GALC) activity was mainly localized at the Purkinje cells layer in the cerebellum of the AAV-treated twitcher mice. | Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy.
Lin DS, Hsiao CD, Lee AY, Ho CS, Liu HL, Wang TJ, Jian YR, Hsu JC, Huang ZD, Lee TH, Chiang MF. | 11/28/2015 |
| The results of this study indicated that the greater neurochemical pathology observed in the optic nerve than in the sciatic nerve of beta-gal -/- mice is likely due to the greater glycolipid storage in optic nerve. | Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis.
Heinecke KA, Luoma A, d'Azzo A, Kirschner DA, Seyfried TN., Free PMC Article | 09/5/2015 |
| This study demonistrated that galactosylceramidase Deficiency also casue neuromuscular dysfunction. | Mechanism of neuromuscular dysfunction in Krabbe disease.
Cantuti-Castelvetri L, Maravilla E, Marshall M, Tamayo T, D'auria L, Monge J, Jeffries J, Sural-Fehr T, Lopez-Rosas A, Li G, Garcia K, van Breemen R, Vite C, Garcia J, Bongarzone ER., Free PMC Article | 04/11/2015 |
| results show that GALCtwi-5J, a spontaneous mutation in murine GALC precisely matches the E130K missense mutation in patients with infantile Krabbe disease | Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.
Potter GB, Santos M, Davisson MT, Rowitch DH, Marks DL, Bongarzone ER, Petryniak MA., Free PMC Article | 02/22/2014 |
| Insights into the mechanisms underlying galactosylceramidase regulation of early post-natal neurogenic niches improve our understanding of the multi-component pathology of globoid cell leukodystrophy . | The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development.
Santambrogio S, Ricca A, Maderna C, Ieraci A, Aureli M, Sonnino S, Kulik W, Aimar P, Bonfanti L, Martino S, Gritti A. | 04/6/2013 |
| The crystal structures of GALC and the GALC-product complex, revealing a novel domain architecture with a previously uncharacterized lectin domain not observed in other hydrolases, are presented. | Insights into Krabbe disease from structures of galactocerebrosidase.
Deane JE, Graham SC, Kim NN, Stein PE, McNair R, Cachón-González MB, Cox TM, Read RJ., Free PMC Article | 11/12/2011 |
| Data show that GALC and, possibly, other enzymes for the maintenance of niche functionality and health tightly control the concentration of these sphingolipids within HSPCs. | The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche.
Visigalli I, Ungari S, Martino S, Park H, Cesani M, Gentner B, Sergi Sergi L, Orlacchio A, Naldini L, Biffi A., Free PMC Article | 10/30/2010 |
| These results suggest that GALC deficiency not only affects myelinating glia but also leads to neuronal dysfunction. The contemporaneous neuropathology might help to explain the limited efficacy of current gene and cell therapies. | Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease.
Galbiati F, Givogri MI, Cantuti L, Rosas AL, Cao H, van Breemen R, Bongarzone ER. | 01/21/2010 |
| mutant oligodendrocytes can internalize exogenous galactocerebrosidase and maintain stable myelin, demonstrating that exogenous enzyme replacement will be a key strategy in the therapy of globoid cell leukodystrophy | Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice.
Kondo Y, Wenger DA, Gallo V, Duncan ID., Free PMC Article | 01/21/2010 |
| Mouse model of globoid cell leukodystrophy contains a premature stop codon (W339X) in the galactosylceramidase (GALC) gene that abolishes enzymatic activity. | 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. | 01/21/2010 |
| Direct administration of these viral particles into the brains of neonatal mice with globoid cell leukodystrophy resulted in sustained expression of GALC activity, improved myelination | AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy.
Rafi MA, Zhi Rao H, Passini MA, Curtis M, Vanier MT, Zaka M, Luzi P, Wolfe JH, Wenger DA. | 01/21/2010 |
| Lentiviral vectors were designed and optimized for transfer of Galc expression in Twitcher brain. | Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain.
Dolcetta D, Perani L, Givogri MI, Galbiati F, Amadio S, Del Carro U, Finocchiaro G, Fanzani A, Marchesini S, Naldini L, Roncarolo MG, Bongarzone E. | 01/21/2010 |
| GALC is not restricted to myelinating cells but also to several neuronal cell types in the nervous system, such as hippocampal pyramidal neurons and cerebellar neurons. | Analysis of galactocerebrosidase activity in the mouse brain by a new histological staining method.
Dolcetta D, Perani L, Givogri MI, Galbiati F, Orlacchio A, Martino S, Roncarolo MG, Bongarzone E. | 01/21/2010 |