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GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN, Gan-Or Z. Senkevich K, et al. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
We first aimed to examine whether variants in the GALC locus and across the genome are associated with galactosylceramidase activity. ...No other variants outside the GALC locus were associated with galactosylceramidase activity. Colocalization analysi …
We first aimed to examine whether variants in the GALC locus and across the genome are associated with galactosylceramidase ac …
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botía J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW; United Kingdom Brain Expression Consortium (UKBEC) and the International Parkinson’s Disease Genomics Consortium (IPDGC). Kia DA, et al. JAMA Neurol. 2021 Apr 1;78(4):464-472. doi: 10.1001/jamaneurol.2020.5257. JAMA Neurol. 2021. PMID: 33523105 Free PMC article.
A further 6 genes (ZRANB3 [OMIM 615655], PCGF3 [OMIM 617543], NEK1 [OMIM 604588], NUPL2 [NCBI 11097], GALC [OMIM 606890], and CTSB [OMIM 116810]) showed evidence of disease-associated splicing effects. ...
A further 6 genes (ZRANB3 [OMIM 615655], PCGF3 [OMIM 617543], NEK1 [OMIM 604588], NUPL2 [NCBI 11097], GALC [OMIM 606890], and CTSB [O …
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. Iacono D, et al. Neurobiol Dis. 2022 Nov;174:105862. doi: 10.1016/j.nbd.2022.105862. Epub 2022 Sep 14. Neurobiol Dis. 2022. PMID: 36113749 Free PMC article.
Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes lysosomal enzyme galactosylceramidase (GALC). ...The p.Ile562Thr polymorphic variant, which is over-represented in the KD popul …
Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes l …
beta-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice.
Coltrini D, Chandran AMK, Belleri M, Poliani PL, Cominelli M, Pagani F, Capra M, Calza S, Prioni S, Mauri L, Prinetti A, Kofler JK, Escolar ML, Presta M. Coltrini D, et al. Int J Mol Sci. 2022 Aug 21;23(16):9436. doi: 10.3390/ijms23169436. Int J Mol Sci. 2022. PMID: 36012705 Free PMC article.
Globoid cell leukodystrophy (GLD), or Krabbe disease, is a neurodegenerative sphingolipidosis caused by genetic deficiency of lysosomal beta-galactosylceramidase (GALC), characterized by neuroinflammation and demyelination of the central (CNS) and peripheral nervous …
Globoid cell leukodystrophy (GLD), or Krabbe disease, is a neurodegenerative sphingolipidosis caused by genetic deficiency of lysosomal beta …
beta-Galactosylceramidase Promotes Melanoma Growth via Modulation of Ceramide Metabolism.
Belleri M, Paganini G, Coltrini D, Ronca R, Zizioli D, Corsini M, Barbieri A, Grillo E, Calza S, Bresciani R, Maiorano E, Mastropasqua MG, Annese T, Giacomini A, Ribatti D, Casas J, Levade T, Fabrias G, Presta M. Belleri M, et al. Cancer Res. 2020 Nov 15;80(22):5011-5023. doi: 10.1158/0008-5472.CAN-19-3382. Epub 2020 Sep 30. Cancer Res. 2020. PMID: 32998995
Disturbance of sphingolipid metabolism may represent a novel therapeutic target in metastatic melanoma, the most lethal form of skin cancer. beta-Galactosylceramidase (GALC) removes beta-galactose from galactosylceramide and other sphingolipids. In this study, we sh …
Disturbance of sphingolipid metabolism may represent a novel therapeutic target in metastatic melanoma, the most lethal form of skin cancer. …
The Pro-Oncogenic Sphingolipid-Metabolizing Enzyme beta-Galactosylceramidase Modulates the Proteomic Landscape in BRAF(V600E)-Mutated Human Melanoma Cells.
Capoferri D, Chiodelli P, Corli M, Belleri M, Scalvini E, Mignani L, Guerra J, Grillo E, De Giorgis V, Manfredi M, Presta M. Capoferri D, et al. Int J Mol Sci. 2023 Jun 23;24(13):10555. doi: 10.3390/ijms241310555. Int J Mol Sci. 2023. PMID: 37445731 Free PMC article.
beta-Galactosylceramidase (GALC) is a lysosomal enzyme involved in sphingolipid metabolism by removing beta-galactosyl moieties from beta-galactosylceramide and beta-galactosylsphingosine. Previous observations have shown that GALC may exert pro-oncogenic fun …
beta-Galactosylceramidase (GALC) is a lysosomal enzyme involved in sphingolipid metabolism by removing beta-galactosyl moietie …
Suppression of galactocerebrosidase premature termination codon and rescue of galactocerebrosidase activity in twitcher cells.
Luddi A, Crifasi L, Capaldo A, Piomboni P, Costantino-Ceccarini E. Luddi A, et al. J Neurosci Res. 2016 Nov;94(11):1273-83. doi: 10.1002/jnr.23790. J Neurosci Res. 2016. PMID: 27638609
Krabbe's disease (KD) is a degenerative lysosomal storage disease resulting from deficiency of beta-galactocerebrosidase activity. Over 100 mutations are known to cause the disease, and these usually occur in compound heterozygote patterns. ...Incubation of these cell line …
Krabbe's disease (KD) is a degenerative lysosomal storage disease resulting from deficiency of beta-galactocerebrosidase activity. Ov …
Insights into the Pathogenesis and Treatment of Krabbe Disease.
Bongarzone ER, Escolar ML, Gray SJ, Kafri T, Vite CH, Sands MS. Bongarzone ER, et al. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:689-96. Pediatr Endocrinol Rev. 2016. PMID: 27491217 Review.
Krabbe disease (globoid cell leukodystrophy, GLD) is an inherited disease caused by a deficiency in the lysosomal enzyme galactocerebrosidase (GALC). The major galactosylated lipid degraded by GALC is galactosylceramide. However, GALC is also responsib …
Krabbe disease (globoid cell leukodystrophy, GLD) is an inherited disease caused by a deficiency in the lysosomal enzyme galactocerebrosi …
Clinical, genetic, and molecular characteristics in a central-southern Chinese cohort of genetic leukodystrophies.
Li Y, Xu J, Xu Y, Li C, Wu Y, Liu Z. Li Y, et al. Ann Clin Transl Neurol. 2023 Sep;10(9):1556-1568. doi: 10.1002/acn3.51845. Epub 2023 Jul 11. Ann Clin Transl Neurol. 2023. PMID: 37434390 Free PMC article.
RESULTS: A total of eight pathogenic variants (3 novel, 5 documented) were identified in genes including AARS2, ABCD1, CSF1R, and GALC. Common symptoms of leukodystrophy such as cognitive decline, behavioral symptoms, bradykinesia, and spasticity were observed in mutation …
RESULTS: A total of eight pathogenic variants (3 novel, 5 documented) were identified in genes including AARS2, ABCD1, CSF1R, and GALC …
Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations.
Marian OC, Teo JD, Lee JY, Song H, Kwok JB, Landin-Romero R, Halliday G, Don AS. Marian OC, et al. Acta Neuropathol Commun. 2023 Mar 27;11(1):52. doi: 10.1186/s40478-023-01544-7. Acta Neuropathol Commun. 2023. PMID: 36967384 Free PMC article.
Both FTD-GRN and FTD-C9orf72 cases showed significantly increased lysosomal and phagocytic protein markers, however galactocerebrosidase activity, required for lysosomal catabolism of galactosylceramide and sulfatide, was selectively increased in FTD-GRN. ...
Both FTD-GRN and FTD-C9orf72 cases showed significantly increased lysosomal and phagocytic protein markers, however galactocerebrosidase …
83 results