Affinage

GALC

Galactocerebrosidase · UniProt P54803

Length
685 aa
Mass
77.1 kDa
Annotated
2026-04-28
77 papers in source corpus 18 papers cited in narrative 19 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

GALC encodes galactosylceramidase (EC 3.2.1.46), a lysosomal hydrolase that cleaves the galactosyl headgroup from galactosylceramide and galactosylsphingosine (psychosine), functioning as a heterotetrameric complex with the saposin SapA via a channel connecting the enzyme active site to SapA's hydrophobic cavity (PMID:29323104, PMID:7601472). The enzyme is trafficked to lysosomes through mannose-6-phosphate receptor–mediated uptake and can be secreted and cross-corrected between cells, with lysosomal GALC activity—determined by proper trafficking and processing—serving as the key determinant of disease onset and severity (PMID:8812733, PMID:26865610). Loss-of-function mutations cause Krabbe disease (globoid cell leukodystrophy), in which psychosine accumulation drives autonomous demyelination in myelin-forming cells while galactosylceramide storage in macrophages triggers secondary neuroinflammation through globoid cell formation, representing two distinct pathogenic mechanisms (PMID:32375064, PMID:23620143). GALC haploinsufficiency also impairs microglial phagocytic clearance of myelin debris and remyelination capacity (PMID:28575206).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 1995 High

    Identification of GALC as the gene encoding galactosylceramidase established the molecular identity of the lysosomal enzyme responsible for galactosylceramide and psychosine catabolism.

    Evidence Biochemical purification from human urine/brain, cDNA cloning, and gene structure determination

    PMID:7601472

    Open questions at the time
    • Three-dimensional structure unknown
    • Mechanism of substrate presentation to the soluble enzyme not addressed
    • Determinants of enzyme trafficking to lysosomes not characterized
  2. 1996 High

    Demonstrating that GALC is secreted and recaptured via mannose-6-phosphate receptors for lysosomal delivery established the cell biology of GALC trafficking and the basis for cross-correction therapy.

    Evidence Retroviral transduction of fibroblasts with secretion/uptake assays and mannose-6-phosphate receptor inhibition

    PMID:8812733

    Open questions at the time
    • Efficiency of cross-correction in vivo not tested
    • Post-translational processing steps for lysosomal maturation not defined
  3. 1997 Medium

    Characterization of the GALC promoter as a GC-rich, TATA-less region with Sp1 sites and flanking inhibitory elements explained the constitutively low expression of GALC across cell types; splicing mutations (IVS6+5G>A) causing exon skipping and NMD were established as a disease mechanism.

    Evidence CAT reporter deletion constructs for promoter; mini-gene transfection for splice mutation

    PMID:10464649 PMID:9441867

    Open questions at the time
    • In vivo promoter regulation and tissue-specific modulators not addressed
    • No systematic survey of splicing mutations
  4. 2006 High

    Establishing that the twitcher nonsense mutation triggers NMD of GALC mRNA, and that lentiviral GALC localizes to lysosomes in neural cells with functional cross-correction, defined both a mRNA-level disease mechanism and a gene therapy rationale.

    Evidence NMD inhibitor rescue in twitcher Schwann cells; lentiviral transduction with lysosomal immunostaining and conditioned medium correction

    PMID:16732552 PMID:16759875

    Open questions at the time
    • In vivo cross-correction efficiency in CNS not determined
    • Relative contributions of NMD vs. protein instability for other mutations unknown
  5. 2013 Medium

    The GALCtwi-5J missense mouse model showed that loss of GALC catalytic activity with normal precursor levels leads to psychosine accumulation and PNS-predominant dysmyelination, distinguishing a primary dysmyelination mechanism from secondary inflammatory demyelination.

    Evidence E130K missense knock-in mouse with enzyme activity, psychosine quantification, and neuropathology

    PMID:23620143

    Open questions at the time
    • Why CNS myelin is relatively spared in this model not explained
    • Whether psychosine toxicity is direct or involves intermediate effectors unresolved
  6. 2016 High

    Resolving the genotype-phenotype puzzle, subcellular fractionation demonstrated that lysosomal (not total cellular) GALC activity determines disease severity, with infantile mutations showing defective lysosomal trafficking and cis-polymorphisms modulating enzyme processing.

    Evidence Lysosomal fractionation, enzyme activity in lysosomes vs. whole-cell lysates, trafficking analysis of multiple GALC mutants

    PMID:26865610

    Open questions at the time
    • Structural basis for trafficking defects not defined
    • How cis-polymorphisms mechanistically alter processing not fully resolved
  7. 2017 Medium

    Demonstrating that GALC haploinsufficiency impairs microglial phagocytosis and remyelination after demyelination revealed a non-cell-autonomous role for GALC in myelin repair beyond its canonical catabolic function.

    Evidence Cuprizone demyelination in GALC+/- mice with histology, Trem2 analysis, and pharmacological rescue

    PMID:28575206

    Open questions at the time
    • Whether Trem2 reduction is a direct consequence of lipid substrate accumulation or an indirect effect is unclear
    • Relevance to human heterozygous carriers not tested
  8. 2018 High

    The crystal structure of the GALC–SapA complex revealed a heterotetrameric architecture with a channel connecting the active site to SapA's hydrophobic cavity, providing the structural basis for how a soluble hydrolase accesses lipid substrates embedded in membranes.

    Evidence X-ray crystallography with functional validation

    PMID:29323104

    Open questions at the time
    • How the complex assembles on lysosomal membranes in situ not resolved
    • Structural consequences of disease-causing mutations on the GALC–SapA interface not systematically mapped
  9. 2020 High

    Cell-type-specific GALC ablation in mice dissected two independent disease mechanisms: autonomous psychosine-driven demyelination in Schwann cells and galactosylceramide-driven globoid cell transformation in macrophages causing secondary neuroinflammation.

    Evidence Cell-type-specific GALC-deficient mouse model with hematopoietic stem cell transplantation

    PMID:32375064

    Open questions at the time
    • Relative contribution of each mechanism to human disease progression not quantified
    • Why cross-correction is inefficient in vivo not mechanistically explained
  10. 2025 Medium

    A zebrafish GALC model revealed lactosylceramide as a neuroinflammatory metabolite accumulating upon GALC loss, broadening the pathogenic lipid repertoire beyond psychosine and galactosylceramide.

    Evidence CRISPR/Cas9 galcb knockout zebrafish with targeted lipidomics and intraventricular LacCer injection

    PMID:40305757

    Open questions at the time
    • Whether LacCer accumulation occurs in mammalian Krabbe models not established
    • Enzymatic basis for LacCer as a GALC substrate vs. secondary metabolic effect unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the structural basis for how disease-causing mutations differentially affect lysosomal trafficking vs. catalytic activity, whether lactosylceramide accumulation contributes to human Krabbe pathogenesis, and the mechanism underlying inefficient in vivo cross-correction of GALC.
  • No systematic structure-function mapping of mutations onto GALC-SapA complex
  • Lactosylceramide role in mammalian models not tested
  • Determinants of in vivo cross-correction efficiency unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016787 hydrolase activity 4
Localization
GO:0005764 lysosome 4
Pathway
R-HSA-1430728 Metabolism 4 R-HSA-1643685 Disease 3
Partners
PSAP
Complex memberships
GALC-SapA heterotetramer

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2018 GALC forms a heterotetrameric complex with the saposin SapA to degrade glycosphingolipids: crystal structure of the GALC-SapA complex reveals an open channel connecting the enzyme active site to the SapA hydrophobic cavity, explaining how the soluble hydrolase cleaves the polar glycosyl headgroups of galactosylceramide from their hydrophobic ceramide tails. Crystal structure determination (structural biology) with functional validation Nature Communications High 29323104
1995 GALC catalyzes lysosomal hydrolysis of galactosylceramide (galactocerebroside) and galactosylsphingosine (psychosine) as primary substrates; the enzyme is a lysosomal hydrolase (EC 3.2.1.46) purified from human urine and brain, and the GALC gene encodes 17 exons spanning ~60 kb. Biochemical purification, cDNA cloning, gene structure determination Genomics High 7601472
1996 GALC expressed via retroviral vector in fibroblasts is secreted into the media and taken up by neighboring untransduced cells; uptake is partially mannose-6-phosphate receptor-mediated, and internalized GALC localizes to lysosomes where it metabolizes galactosylceramide. Retroviral transduction, secretion assay, mannose-6-phosphate receptor inhibition, radiolabeled substrate metabolism in lysosomes Biochemical and Molecular Medicine High 8812733
2016 Infantile-onset GALC mutants show reduced trafficking to lysosomes and reduced processing compared to later-onset mutants; lysosomal GALC activity (not total cell lysate activity) correlates with disease severity, and cis-polymorphisms modulate lysosomal trafficking and processing of GALC. Subcellular fractionation to isolate lysosomal fraction, enzyme activity assay in lysosomes vs. whole-cell lysates, trafficking analysis of mutant GALC proteins The Journal of Neuroscience High 26865610
2020 GALC is required for macrophage degradation of myelin-derived galactosylceramide; GALC-deficient macrophages accumulate galactosylceramide and transform into globoid cells, causing secondary neuroinflammation independent of psychosine-induced demyelination. Cross-correction of GALC does not occur efficiently in vivo, and Schwann cells autonomously produce psychosine. Novel GLD mouse model with cell-type-specific GALC deficiency, in vivo macrophage exposure to galactosylceramide, hematopoietic stem cell transplantation experiments Neuron High 32375064
2006 The twitcher mouse nonsense mutation (W339X) in GALC causes nonsense-mediated mRNA decay (NMD) of GALC transcripts, resulting in undetectable truncated protein; NMD inhibitors (anisomycin, emetine, puromycin) restore GALC transcript levels in twitcher-derived Schwann cells. Western blot, quantitative RT-PCR, NMD inhibitor treatment in twitcher Schwann cell line (TwS1) Neurobiology of Disease High 16759875
1997 The 5' flanking region of the human GALC gene contains a GC-rich promoter with Sp1 binding sites but no TATA or CAAT boxes; a construct from nucleotides -176 to -24 has strongest promoter activity, with inhibitory sequences upstream of the promoter and within the first 234 nucleotides of intron 1, explaining low GALC protein levels across all cell types. Chloramphenicol acetyltransferase (CAT) reporter assay with deletion constructs Biochemical and Molecular Medicine Medium 9441867
1996 Expression studies in COS-1 cells confirmed that the A473C transversion (Y158S) in canine GALC is the disease-causing mutation in West Highland White and Cairn terriers with globoid cell leukodystrophy, while the C1915T change (P639S) is not causative. COS-1 cell expression system with site-specific mutation, enzyme activity assay Genomics Medium 8661004
2007 The GALC p.Gly41Ser missense mutation abolishes galactocerebrosidase catalytic activity, as confirmed by expression studies, and causes late-onset Krabbe disease as a founder mutation in the Catania region of Sicily. Expression studies with enzyme activity assay Human Mutation Medium 17579360
1997 An intronic IVS6+5G>A mutation in GALC causes exon 6 skipping, demonstrated by GALC mini-gene transfection experiments; the resulting transcript from the nonsense mutation allele undergoes rapid degradation consistent with NMD. Mini-gene transfection, mRNA analysis Genetic Testing Medium 10464649
2015 N-octyl-4-epi-β-valienamine (NOEV) acts as a pharmacological chaperone for mutant GALC: it inhibits GALC activity in cell lysates, stabilizes GALC under heat denaturation, binds to the active site (structural modeling), and enhances maturation of GALC precursor to its mature active form, increasing activity of late-onset mutant GALC in COS1 cells and patient fibroblasts. Enzyme activity assay, heat denaturation protection assay, in vitro chaperone treatment in COS1 cells and patient fibroblasts, structural modeling Journal of Human Genetics Medium 26108143
2013 The GALC E130K missense mutation causes loss of enzymatic activity despite normal precursor protein levels; the GALCtwi-5J mouse model shows that loss of GALC activity leads to psychosine accumulation and severe PNS hypomyelination/dysmyelination with preserved CNS myelin, suggesting primary dysmyelination mechanism distinct from the twitcher model. Mouse model with missense mutation, enzyme activity assay, neuropathology, psychosine measurement Human Molecular Genetics Medium 23620143
2006 Lentiviral vector-expressed GALC accumulates in lysosomes of transduced neural cells (neurons, oligodendrocytes, astrocytes) and is also secreted into the extracellular medium; conditioned GALC medium corrects enzyme deficiency in non-transduced twitcher glial cultures. Lentiviral transduction, subcellular localization by immunostaining, conditioned medium cross-correction assay The Journal of Gene Medicine Medium 16732552
2017 Heterozygous GALC mutant mice show reduced myelin debris clearance and diminished remyelination after cuprizone-induced demyelination; microglial phagocytic response and Trem2 elevation are markedly reduced in GALC+/- animals, and these defects can be corrected in vitro by NKH-477 treatment. Cuprizone demyelination model in GALC+/- mice, histology, Trem2 analysis, in vitro pharmacological rescue Human Molecular Genetics Medium 28575206
2025 In a zebrafish GALC model, galcb knockout (not galca) dramatically reduces total GALC activity; galcb KO zebrafish accumulate lactosylceramide (LacCer) rather than psychosine in brain, and intraventricular LacCer injection induces neuroinflammatory markers and macrophage infiltration, implicating LacCer as a neuroinflammatory metabolite in GALC deficiency. CRISPR/Cas9 knockout in zebrafish, GALC activity assay, targeted lipidomics, intraventricular LacCer injection, immunohistochemistry, gene expression analysis Brain Medium 40305757
2024 Systematic expression of 31 clinically-relevant GALC missense variants in a GALC-knockout human oligodendrocytic cell line shows that infantile-onset variants retain <2% of wild-type activity, later-onset variants retain up to 7%, residual GALC activity correlates with mature lysosomal GALC protein levels (Pearson r=0.93), and many low-activity variants have defective lysosomal trafficking (mis-trafficking) while retaining secretion capacity. CRISPR-Cas9 GALC knockout cell line, transient expression assays, enzyme activity assay, lysosomal GALC protein quantification, secretion assays, psychosine measurement bioRxiv (preprint)preprint Medium 39464077
2023 GALC knockout by CRISPR-Cas9 in neuronal cell models does not lead to alpha-synuclein accumulation, suggesting that increased rather than reduced galactosylceramidase activity may be associated with Parkinson's disease; structural analysis indicates the common variant p.I562T leads to improper GALC maturation affecting activity. CRISPR-Cas9 knockout, alpha-synuclein immunoassay, in silico structural analysis, GBA activity assay Brain Medium 36370000
2020 iPSC-derived microglia from Krabbe patients form globoid cells when fed galactosylceramide (GalCer), with accumulation of autophagy proteins and LAMP1 reduction, demonstrating that GalCer loading triggers lysosomal dysfunction and globoid cell transformation; Krabbe myelinating organoids show early myelination defects without autophagy or mTOR pathway dysregulation. iPSC-derived microglia and myelinating organoids, GalCer feeding assay, LAMP1 and LC3B immunostaining, myelin internode analysis bioRxiv (preprint)preprint Low
2025 Recombinant murine GALC administered to GALC-deficient (twitcher) primary cells restores autophagic function at physiological dose (LC3 and p62 markers normalized), while supra-physiological GALC causes autophagy impairment and decreased viability, demonstrating dose-dependent lysosomal-autophagic pathway interaction. Enzyme replacement in vitro, LC3 and p62 immunoblotting, cell viability assay Advanced Biology Low 40590240

Source papers

Stage 0 corpus · 77 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1990 Two proliferative stages of the oligodendrocyte lineage (A2B5+O4- and O4+GalC-) under different mitogenic control. Neuron 254 2223090
1993 Glial cell mitogens bFGF and PDGF differentially regulate development of O4+GalC- oligodendrocyte progenitors. Developmental biology 157 8405684
2010 Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Human mutation 98 20886637
1995 A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Human molecular genetics 98 7581365
1995 Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics 81 7601472
1996 Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Genomics 74 8661004
1995 Oligodendroblasts distinguished from O-2A glial progenitors by surface phenotype (O4+GalC-) and response to cytokines using signal transducer LIFR beta. Developmental biology 74 7875381
1995 Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Human molecular genetics 74 8634707
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 60 9192853
2006 Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. Journal of human genetics 58 16607461
2020 Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction. Neuron 57 32375064
2015 Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice. Molecular therapy : the journal of the American Society of Gene Therapy 53 26329589
1996 Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. Annals of neurology 52 8687180
2013 Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. Human molecular genetics 49 23620143
2016 Intrathecal administration of AAV/GALC vectors in 10-11-day-old twitcher mice improves survival and is enhanced by bone marrow transplant. Journal of neuroscience research 46 27638599
2018 The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure. Nature communications 45 29323104
2014 Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features. Molecular genetics and metabolism 43 25533112
1995 Elevated intracellular levels of cAMP induce olfactory ensheathing cells to express GAL-C and GFAP but not MBP. Glia 41 7544324
1993 Transient reversion of O4+ GalC- oligodendrocyte progenitor development in response to the phorbol ester TPA. Journal of neuroscience research 41 8423632
2016 Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity. The Journal of neuroscience : the official journal of the Society for Neuroscience 38 26865610
1996 Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells. Biochemical and molecular medicine 38 8812733
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. Human mutation 36 17579360
1994 Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. Cytogenetics and cell genetics 36 8162701
2011 GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease. PloS one 34 22073273
2006 Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain. The journal of gene medicine 33 16732552
2002 Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. Clinica chimica acta; international journal of clinical chemistry 31 11814461
2017 Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury. Human molecular genetics 29 28575206
1992 Stage specific, (O4+GalC-) isolated oligodendrocyte progenitors produce MBP+ myelin in vivo. Developmental neuroscience 29 1382941
2015 IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease. American journal of respiratory cell and molecular biology 27 25101718
2006 Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD). Neurobiology of disease 27 16759875
1997 Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. Journal of inherited metabolic disease 27 9266397
2023 GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease. Brain : a journal of neurology 26 36370000
2015 Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations. Journal of human genetics 26 26108143
1999 Transduction of cultured oligodendrocytes from normal and twitcher mice by a retroviral vector containing human galactocerebrosidase (GALC) cDNA. Neurochemical research 22 9972877
1993 Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. American journal of human genetics 22 8250040
2020 Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature. Frontiers in neurology 17 33178108
2013 Four novel GALC gene mutations in two Chinese patients with Krabbe disease. Gene 17 23462331
2021 Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT? BioImpacts : BI 15 33842284
2012 Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene. Brain & development 15 22959700
2005 GALC transduction leads to morphological improvement of the twitcher oligodendrocytes in vivo. Molecular genetics and metabolism 15 15781194
2020 GALC Triggers Tumorigenicity of Colorectal Cancer via Senescent Fibroblasts. Frontiers in oncology 14 32318333
2020 Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report. Molecular genetics & genomic medicine 13 32677356
2017 Genomewide association study identifies GALC as susceptibility gene for mucous membrane pemphigoid. Experimental dermatology 11 29136295
2012 A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease. Gene 11 23276707
1997 Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. Genetic testing 10 10464649
2022 A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review. Neurogenetics 9 35013804
2020 Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease. Journal of biomolecular structure & dynamics 8 32186243
1997 Analysis of the 5' flanking region of the human galactocerebrosidase (GALC) gene. Biochemical and molecular medicine 8 9441867
2023 rAAV2-Mediated Restoration of GALC in Neural Stem Cells from Krabbe Patient-Derived iPSCs. Pharmaceuticals (Basel, Switzerland) 7 37111381
2023 Brain Targeted AAV1-GALC Gene Therapy Reduces Psychosine and Extends Lifespan in a Mouse Model of Krabbe Disease. Genes 7 37628569
2022 A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report. Neurocase 7 35654103
2020 Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review. Frontiers in neurology 7 32973651
2019 GALC mutations in Chinese patients with late-onset Krabbe disease: a case report. BMC neurology 7 31185936
2015 Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. BMC pediatrics 7 26567009
2024 Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years. Clinical genetics 6 38515343
2020 AAV-Mediated GALC Gene Therapy Rescues Alpha-Synucleinopathy in the Spinal Cord of a Leukodystrophic Lysosomal Storage Disease Mouse Model. Frontiers in cellular neuroscience 6 33424556
2017 Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 6 28109651
2025 High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions. European journal of neurology 5 40391866
2015 GALC gene is downregulated by promoter hypermethylation in Epstein-Barr virus-associated nasopharyngeal carcinoma. Oncology reports 5 26178533
2024 Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature. Neurocase 4 38762762
2022 Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation. Stem cell research 4 36270068
2022 Reliable and Fast Genotyping Protocol for Galactosylceramidase (Galc) in the Twitcher (Twi) Mouse. Biomedicines 4 36551902
2020 Allele frequency analysis of GALC gene causing Krabbe disease in human and its codon usage. Gene 4 32304783
2018 Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients. Human genome variation 4 30323943
2015 Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) 4 27442402
2012 Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease. Orphanet journal of rare diseases 4 22704718
2025 Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease. Brain : a journal of neurology 3 40305757
2025 Investigating the Cellular Effects of GALC Dosing in Enzyme Replacement Therapy for Krabbe Disease Supports the Role of Nanomedicine. Advanced biology 3 40590240
2021 Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease. Translational pediatrics 2 34765479
2025 Amelioration of Inflammation and Metabolic Blockage in GALC Deficient Mice After Enzyme Replacement Therapy via Extracellular Vesicles. International journal of nanomedicine 1 40692539
2025 Beyond Krabbe disease, the intriguing connection of galactocerebrosidase (GALC) with nervous system illness: A novel risk factor? Neuroscience 1 41086929
2024 Expression study of Krabbe Disease GALC missense variants - Insights from quantification profiles of residual enzyme activity, secretion and psychosine levels. bioRxiv : the preprint server for biology 1 39464077
2018 A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 1 30209698
2026 In vivo adenine base editing of mutant Galc gene ameliorates Krabbe disease progression. Genome medicine 0 42026681
2025 Molecular Characterization of the GALC Mutation Thr112Ala Causing Krabbe Disease. International journal of molecular sciences 0 40943566
2025 Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease. Biomedicines 0 41463122
1999 [A case of pharyngeal-cervical-brachial variant of Guillain-Barré syndrome with positive anti-galactocerebroside (Gal-C) IgM antibody]. Rinsho shinkeigaku = Clinical neurology 0 10424145