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Page 1
Direct microglia replacement reveals pathologic and therapeutic contributions of brain macrophages to a monogenic neurological disease.
Aisenberg WH, O'Brien CA, Sangster M, Yaqoob F, Zhang Y, Temsamrit B, Thom S, Gosse L, Chaluvadi S, Elfayomi B, Lee G, Polam V, Levitt EM, Liu G, Lombroso SI, Nemec KM, Clowry G, Nieves C, Rawat P, Church E, Martinez D, Shoffler C, Kancheva D, Petucci C, Taylor D, Kofler J, Erskine D, Movahedi K, Bennett ML, Bennett FC. Aisenberg WH, et al. Immunity. 2025 May 13;58(5):1254-1268.e9. doi: 10.1016/j.immuni.2025.03.019. Epub 2025 Apr 30. Immunity. 2025. PMID: 40311614 Free PMC article.
Krabbe disease, also named globoid cell (GC) leukodystrophy (GLD) for its distinct lipid-laden macrophages, is a severe leukodystrophy caused by galactosylceramidase (GALC) mutations. Hematopoietic stem cell transplant (HSCT) ameliorates disease and is associated wi …
Krabbe disease, also named globoid cell (GC) leukodystrophy (GLD) for its distinct lipid-laden macrophages, is a severe leukodystrophy cause …
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 further analysed the effects of common GALC variants on expression and galactosylceramidase activity using genomic colocalization methods. ...No other variants outside the GALC locus were associated with galactosylceramidase activity. Colocalization …
We further analysed the effects of common GALC variants on expression and galactosylceramidase activity using genomic colocali …
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.
Feo F, Tramacere L, Ramat S, Govoni A, Caremani L, Grigioni G, Mei D, Falliano S, Marin F, Ferri L, Paoli A, Rinaldi M, la Marca G, Ombrone D, Procopio E, Guerrini R, Morrone A, Caciotti A. Feo F, et al. Eur J Neurol. 2025 May;32(5):e70206. doi: 10.1111/ene.70206. Eur J Neurol. 2025. PMID: 40391866 Free PMC article.
BACKGROUND AND PURPOSE: Galactocerebrosidase (GALC) deficiency causes Krabbe disease, a severe lysosomal neurodegenerative condition. ...(Leu238Leu) in the GALC gene. Two patients carrying known pathogenetic GALC variants were also heterozygous for oth …
BACKGROUND AND PURPOSE: Galactocerebrosidase (GALC) deficiency causes Krabbe disease, a severe lysosomal neurodegenerative con …
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). Functional deficiency of GALC is toxic to myelin-producing cells, which le …
Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes l …
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. …
Quantification profiles of enzyme activity, secretion, and psychosine levels of Krabbe disease galactosylceramidase missense variants.
Peng H, Lam YW, Lau KF, Zhou Z, Herdt AR, Gelb MH, Lee CW. Peng H, et al. J Biol Chem. 2025 Jul;301(7):110315. doi: 10.1016/j.jbc.2025.110315. Epub 2025 May 29. J Biol Chem. 2025. PMID: 40449593 Free PMC article.
Krabbe disease is an autosomal recessive, demyelinating disorder caused by mutations in the GALC gene. Missense mutation variants (MMVs) account for most pathogenic alleles in patients; however, their mechanistic implications and correlations to clinical phenotype remain u …
Krabbe disease is an autosomal recessive, demyelinating disorder caused by mutations in the GALC gene. Missense mutation variants (MM …
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 …
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 …
Chimeric enzymes enhance treatment potential for globoid cell leukodystrophy through hematopoietic stem cell gene therapy.
Cascino F, Ricca A, Picciotti I, Valeri E, Unali G, Saporito V, Freschi M, Morena F, Martino S, Kajaste-Rudnitski A, Gritti A. Cascino F, et al. Mol Ther. 2025 Dec 3;33(12):6226-6247. doi: 10.1016/j.ymthe.2025.09.030. Epub 2025 Sep 22. Mol Ther. 2025. PMID: 40988335 Free PMC article.
Globoid cell leukodystrophy (GLD) is a fatal lysosomal storage disorder caused by a deficiency in the beta-galactosylceramidase (GALC) enzyme, leading to severe demyelination and neurodegeneration, and often death before the age of 2 years. ...The chimeric IDUAsp. …
Globoid cell leukodystrophy (GLD) is a fatal lysosomal storage disorder caused by a deficiency in the beta-galactosylceramidase (G …
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 …
71 results