Affinage

GLB1

Beta-galactosidase · UniProt P16278

Length
677 aa
Mass
76.1 kDa
Annotated
2026-06-10
46 papers in source corpus 15 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

GLB1 encodes lysosomal β-galactosidase, the enzyme primarily responsible for degrading GM1 ganglioside in human CNS tissue; CRISPR knockout in cerebral organoids causes progressive GM1 accumulation that is reversed by AAV9-GLB1 delivery (PMID:31534909). On reaching the endosomal-lysosomal compartment, the enzyme associates with protective protein/cathepsin A (PPCA/CTSA) and neuraminidase (NEU1) to form the lysosomal multienzyme complex, and this gene network is functionally interdependent—loss of GLB1 downregulates NEU1 and CTSA, and pathogenic GLB1 mutations alter neuraminidase and PPCA patterns (PMID:17664528, PMID:39076066). GLB1 pre-mRNA is alternatively spliced under SR-protein control to yield either the full-length lysosomal enzyme or an elastin-binding protein (EBP) isoform that is displayed at the cell surface and functions as a receptor for elastin-derived peptides driving choroidal endothelial cell migration (PMID:19114006, PMID:22178079). The locus is the molecular origin of senescence-associated β-galactosidase activity, with enzyme levels rising during replicative and stress-induced senescence in vitro and increasing with chronological age and pathological senescence in vivo, where the signal is reduced by senolytic treatment (PMID:25876105, PMID:36396643). Pathogenic missense and in-frame variants impair catalytic-site geometry, enzyme folding, intracellular trafficking, and lysosomal delivery, causing GM1 gangliosidosis and Morquio B disease; misfolding can be corrected by pharmacological chaperones (competitive iminoalditol inhibitors) and the underlying lesions by base editing or splice-modulating oligonucleotides (PMID:20175788, PMID:22033734, PMID:35882863, PMID:36629845, PMID:30187681).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2003 Medium

    Established that GLB1 enzyme activity can be modulated in cis by a second variant, defining a complex-allele mechanism for phenotype severity rather than single-mutation effects.

    Evidence COS1 cell expression of R201C alone versus R201C/L436F complex allele with Western blotting

    PMID:12644936

    Open questions at the time
    • Mechanism by which L436F further reduces activity (folding vs catalysis) not resolved
    • Limited to a single allele combination
  2. 2005 Medium

    Demonstrated a splicing-regulatory basis for loss of GLB1 function, showing that disruption of an exon splicing enhancer generates truncated non-functional transcripts and causes GM1-gangliosidosis.

    Evidence Cloning, sequencing and mRNA analysis of a canine GLB1 exon 15 duplication with ESE prediction

    PMID:15944348

    Open questions at the time
    • Animal-model allele; human equivalence not tested
    • Predicted truncated proteins not biochemically characterized
  3. 2007 Medium

    Identified GLB1 as a subunit of the lysosomal multienzyme complex with PPCA and neuraminidase and showed disease mutations disrupt complex composition, linking enzyme stability to its partner proteins.

    Evidence Reciprocal coimmunoprecipitation and Western blotting of patient protein extracts plus mutant allele expression

    PMID:17664528

    Open questions at the time
    • Stoichiometry and assembly order of the complex not defined
    • No structural model of the interaction
  4. 2007 Low

    Distinguished pathogenic from benign variation by defining a pseudodeficiency allele that lowers enzyme activity without disease, clarifying genotype interpretation.

    Evidence COS-1 expression assay of p.Arg595Trp for β-galactosidase activity

    PMID:17661814

    Open questions at the time
    • Single heterologous expression assay, single method
    • Trafficking and complex assembly not assessed
  5. 2008 Medium

    Resolved how a single GLB1 locus produces both a lysosomal hydrolase and a surface elastin-binding protein, showing SR proteins and NMD govern the alternative splicing choice.

    Evidence Minigene splicing assay with SR protein overexpression and cycloheximide-NMD inhibition in HeLa cells and fibroblasts

    PMID:19114006

    Open questions at the time
    • Endogenous regulation of the isoform ratio in tissues not measured
    • Which specific SR proteins act physiologically unknown
  6. 2010 Medium

    Connected specific missense mutations to defective intracellular trafficking and lysosomal delivery, establishing mistrafficking as a disease mechanism beyond loss of catalysis.

    Evidence COS-1 overexpression activity assays plus subcellular localization in patient fibroblasts

    PMID:20175788

    Open questions at the time
    • Trafficking checkpoints disrupted not pinpointed
    • Quantitative degree of mislocalization per allele unclear
  7. 2011 Medium

    Showed the EBP isoform functions as a cell-surface receptor for elastin-derived peptides driving endothelial migration, giving the non-lysosomal GLB1 product a defined signaling role.

    Evidence RT-PCR identification, migration assay with receptor inhibitors, and in vivo mouse EDP injection

    PMID:22178079

    Open questions at the time
    • Downstream signaling pathway from the receptor not mapped
    • Generalizability beyond choroidal endothelium untested
  8. 2011 Medium

    Demonstrated that competitive active-site inhibitors act as pharmacological chaperones, correcting mutant enzyme folding, trafficking and lysosomal maturation, providing a therapeutic strategy.

    Evidence Competitive inhibition and enzyme activity assays in patient fibroblasts with Western blot for trafficking

    PMID:22033734

    Open questions at the time
    • Mutation-specific responsiveness spectrum not defined
    • In vivo efficacy not shown
  9. 2015 Medium

    Established GLB1 as the molecular source of senescence-associated β-galactosidase by linking enzyme accumulation to replicative and therapy-induced senescence markers.

    Evidence Replicative and chemotherapy-induced senescence in prostate epithelial/cancer cells with quantitative immunofluorescence and P16/CDKN2A correlation

    PMID:25876105

    Open questions at the time
    • Causal role of GLB1 in senescence (vs marker) not tested
    • Mechanism of enzyme upregulation unknown
  10. 2018 Low

    Pinpointed a specific residue (Asn490) as critical for catalytic-site geometry, linking an in-frame deletion to residual activity via active-site misalignment.

    Evidence Molecular dynamics simulation of mutant protein with fluorometric enzyme assay in patient leukocytes

    PMID:30187681

    Open questions at the time
    • Computational simulation without in vitro mutagenesis reconstitution
    • Single enzyme activity measurement
  11. 2019 High

    Provided direct genetic proof that GLB1 is the enzyme responsible for GM1 ganglioside degradation in human CNS tissue and that gene replacement reverses substrate storage.

    Evidence CRISPR/Cas9 knockout in iPSC-derived cerebral organoids with GM1 quantification and AAV9-GLB1 rescue

    PMID:31534909

    Open questions at the time
    • Long-term and behavioral consequences of rescue not assessed in this system
    • Cell-type specificity within CNS not dissected
  12. 2022 High

    Revealed a pseudogene-insertion mechanism creating a cryptic exon that causes Morquio B, and showed splice-modulating oligonucleotides can restore wild-type GLB1 splicing.

    Evidence Whole-genome sequencing, mRNA analysis, minigene co-expression, and modified U7-snRNA antisense splice correction in a model cell line

    PMID:35882863

    Open questions at the time
    • Correction in patient tissue/in vivo not demonstrated
    • Frequency of such structural lesions in patients unknown
  13. 2022 High

    Validated GLB1 as a quantitative in vivo reporter of systemic senescence, linking enzyme levels to chronological age and pharmacologically reversible pathological senescence.

    Evidence Glb1-2A-mCherry knock-in mouse with signal quantification across ages, bleomycin injury, and dasatinib+quercetin senolytic treatment

    PMID:36396643

    Open questions at the time
    • Whether elevated GLB1 contributes functionally to senescence not addressed
    • Mechanism driving enzyme accumulation in senescent cells unresolved
  14. 2023 Medium

    Demonstrated precise correction of a pathogenic point mutation by adenine base editing, restoring active enzyme and normalizing lysosomal storage in patient cells.

    Evidence CRISPR adenine base editing of c.380G>A in patient fibroblasts with enzyme assay, lysosomal markers, and off-target analysis

    PMID:36629845

    Open questions at the time
    • In vivo delivery and durability not tested
    • Applicable only to transition-amenable variants
  15. 2024 Medium

    Confirmed functional interdependence of the GLB1-NEU1-CTSA network in human neuronal cells and linked GLB1 loss to altered proliferation and invasion.

    Evidence CRISPR dual-guide knockout in SH-SY5Y cells with X-gal staining, qPCR and RNA-seq

    PMID:39076066

    Open questions at the time
    • Mechanism linking GLB1 loss to NEU1/CTSA downregulation unknown
    • Proliferation/invasion phenotype mechanism not defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • Whether GLB1 enzyme accumulation actively drives the senescent phenotype or is merely a biomarker, and how SR-protein-controlled isoform choice is regulated in physiological tissues, remain unresolved.
  • No loss-of-function test of GLB1's causal contribution to senescence
  • Physiological control of EBP vs lysosomal isoform ratio uncharacterized
  • No experimental structure of the human enzyme or multienzyme complex in the corpus

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016787 hydrolase activity 3 GO:0001618 virus receptor activity 1 GO:0140098 catalytic activity, acting on RNA 1
Localization
GO:0005764 lysosome 4 GO:0005886 plasma membrane 1
Pathway
R-HSA-1643685 Disease 2 R-HSA-1430728 Metabolism 1 R-HSA-8953854 Metabolism of RNA 1
Partners
CTSANEU1
Complex memberships
lysosomal multienzyme complex (GLB1-NEU1-CTSA)

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2008 GLB1 pre-mRNA undergoes alternative splicing regulated by SR proteins and the nonsense-mediated decay (NMD) pathway, generating two functional transcripts: the full-length lysosomal β-galactosidase (β-gal) mRNA (all 16 exons) and the elastin-binding protein (EBP) mRNA (skipping exons 3, 4, 6 with exon 5 in a different reading frame). Overexpression of different SR proteins altered the relative proportions of these transcripts in a minigene system, indicating SR proteins as regulators of this alternative splicing event. Minigene splicing assay, cycloheximide-NMD inhibition, SR protein overexpression in HeLa cells and human fibroblasts BMC research notes Medium 19114006
2011 An alternatively spliced form of GLB1 is expressed on the surface of human choroidal endothelial cells and functions as a receptor for elastin-derived peptides (EDPs). Inhibition of this receptor blocked EDP-induced migration of choroidal endothelial cells, establishing GLB1 as the functional EDP receptor in this context. RT-PCR for receptor identification, cell migration assay with receptor inhibitors, in vivo mouse EDP injection with electroretinography and microarray Matrix biology : journal of the International Society for Matrix Biology Medium 22178079
2007 GLB1-encoded β-galactosidase, on reaching the endosomal-lysosomal compartment, associates with protective protein/cathepsin A (PPCA) and neuraminidase to form the lysosomal multienzyme complex (LMC). Coimmunoprecipitation and Western blotting of patient-derived protein extracts showed that pathogenic mutations in GLB1 alter neuraminidase and PPCA patterns, indicating that disease-causing mutations disrupt the LMC. Expression of mutant alleles in heterologous cells, coimmunoprecipitation, Western blotting of patient protein extracts Journal of lipid research Medium 17664528
2003 The L436F polymorphism in GLB1 acts as a modulating variant: when present in cis with the R201C mutation, it severely reduces residual β-galactosidase activity compared to R201C alone. Expression studies in COS1 cells demonstrated that the R201C/L436F complex allele produces much lower GLB1 activity than R201C alone, establishing a cis-modulating mechanism for GLB1 activity. COS1 cell transfection expression studies, co-transfection experiments, Western blotting Human genetics Medium 12644936
2007 The p.Arg595Trp variant in GLB1 markedly reduces β-galactosidase activity when expressed in COS-1 cells, establishing it as a pseudodeficiency allele — reducing enzymatic activity without causing clinical disease. COS-1 cell expression assay for β-galactosidase activity Clinical genetics Low 17661814
2010 Phenotype-determining GLB1 alleles were characterized by overexpression of missense mutations in COS-1 cells, and subcellular localization of mutant GLB1 proteins was assessed in patient fibroblasts, revealing that specific mutations impair proper intracellular trafficking and lysosomal delivery of the enzyme. COS-1 cell overexpression assays, subcellular localization in patient fibroblasts Clinical genetics Medium 20175788
2011 Fluorous iminoalditol derivatives of 1-deoxygalactonojirimycin act as competitive inhibitors of GLB1-encoded β-galactosidase and function as pharmacological chaperones: they bind the catalytic site of mutant enzymes, correct their misfolded conformation, normalize intracellular trafficking and lysosomal maturation (shown by Western blot), and restore up to tenfold residual enzyme activity in GM1 gangliosidosis patient fibroblasts. Enzyme activity assay in patient fibroblasts, Western blot for protein trafficking and lysosomal maturation, competitive inhibition assay Journal of inherited metabolic disease Medium 22033734
2005 A 19-bp duplication in exon 15 of the canine GLB1 gene disrupts a potential exon splicing enhancer (ESE), causing exon 15 skipping in a fraction of transcripts. This produces two mutant mRNAs from the same allele: one retaining exon 15 with a premature termination codon (not subject to NMD due to its last-exon position), and one lacking exon 15 entirely — both predicted to encode truncated, non-functional proteins, causing GM1-gangliosidosis. Molecular cloning, sequencing of mutant allele, mRNA analysis, ESE prediction analysis Genetics Medium 15944348
2022 Insertion of a processed pseudogene (NPM1) deep in intron 5 of GLB1 introduces pseudogene-derived splicing regulatory motifs that activate a cryptic exon 36 bp upstream of the integration site, leading to aberrant GLB1 splicing and Morquio B disease. Antisense splice-modulating oligonucleotides (ASMOs) incorporated in modified U7 snRNA blocked the cryptic exon and almost completely restored wild-type splicing in a model cell line. Whole-genome sequencing, mRNA analysis, minigene co-expression, antisense oligonucleotide splice correction in model cell line NPJ genomic medicine High 35882863
2015 GLB1-encoded lysosomal β-galactosidase accumulates during replicative senescence and therapy-induced senescence in prostate epithelial cells, correlating with senescent morphology and P16/CDKN2A expression. This establishes GLB1 as the molecular origin of senescence-associated β-galactosidase (SA-β-gal) activity. In vitro replicative senescence of primary prostate epithelial cells, chemotherapy-induced senescence in PCa lines, immunofluorescent staining with quantitative imaging PloS one Medium 25876105
2019 GLB1 knockout in human cerebral organoids (via CRISPR/Cas9) causes progressive accumulation of GM1 ganglioside, and microinjection of AAV9-GLB1 vector restores β-galactosidase activity and significantly reduces GM1 ganglioside content, demonstrating that GLB1 encodes the enzyme primarily responsible for GM1 ganglioside degradation in human CNS tissue. CRISPR/Cas9 GLB1 knockout in human iPSCs, cerebral organoid generation, GM1 ganglioside quantification, AAV9-GLB1 rescue with enzyme activity assay Molecular genetics and metabolism reports High 31534909
2024 GLB1 knockout in SH-SY5Y human neuronal cells results in loss of β-galactosidase activity and downregulation of NEU1 and CTSA expression, establishing that the GLB1-NEU1-CTSA lysosomal multienzyme complex gene network is functionally interdependent. Knockout also suppressed cell proliferation and invasion. CRISPR/Cas9 dual-guide knockout, X-gal staining, qPCR, RNA-seq analysis Cell biochemistry and function Medium 39076066
2023 Adenine base editing (ABE) of the pathogenic GLB1 c.380G>A (p.Cys127Tyr) variant in patient-derived fibroblasts restores canonical guanine at the target site and rescues synthesis of active β-galactosidase to therapeutic levels, normalizing primary glycoconjugate storage and lysosomal pathology. CRISPR/Cas-adenine base editing in patient fibroblasts, enzyme activity assay, lysosomal pathology markers, off-target analysis The CRISPR journal Medium 36629845
2018 A novel in-frame deletion (p.Asn490del) in GLB1 alters the catalytic site geometry based on molecular dynamics simulation, causing misalignment of catalytic residues, and enzyme assay in patient leukocytes confirmed ~3% residual β-galactosidase activity, establishing the catalytic importance of residue Asn490. Molecular dynamics simulation of mutant protein, fluorometric enzyme activity assay in patient leukocytes Molecular genetics & genomic medicine Low 30187681
2022 A Glb1-2A-mCherry (GAC) knock-in reporter in mice shows that GLB1 (lysosomal β-galactosidase) is elevated in tissues of aging mice, with GAC signal linearly correlating with chronological age and exponentially increasing in bleomycin-induced pathological senescence. Senolytic treatment (dasatinib + quercetin) reduced the GAC signal in bleomycin-treated mice, establishing GLB1 as a functional in vivo reporter of systemic senescence. Knock-in reporter mouse generation, fluorescent signal quantification across ages, bleomycin lung injury model, dasatinib+quercetin senolytic treatment Nature communications High 36396643

Source papers

Stage 0 corpus · 46 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2015 Overexpression of the novel senescence marker β-galactosidase (GLB1) in prostate cancer predicts reduced PSA recurrence. PloS one 67 25876105
2019 Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis. Molecular genetics and metabolism reports 51 31534909
1989 Molecular characterization of the major maize embryo globulin encoded by the glb1 gene. Plant physiology 50 16667080
2006 Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. Human mutation 49 16941474
2022 A Glb1-2A-mCherry reporter monitors systemic aging and predicts lifespan in middle-aged mice. Nature communications 37 36396643
2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. Clinical genetics 34 17309651
2003 Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. Human genetics 32 12644936
2011 Molecular responses of choroidal endothelial cells to elastin derived peptides through the elastin-binding protein (GLB1). Matrix biology : journal of the International Society for Matrix Biology 31 22178079
2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. Clinical genetics 31 20175788
2015 Recurrent and novel GLB1 mutations in India. Gene 21 25936995
2011 Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease. Journal of inherited metabolic disease 21 22033734
2015 Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. Biochemical and biophysical research communications 20 25600812
2007 Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. Journal of lipid research 20 17664528
2005 A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics 19 15944348
2020 Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex. International journal of molecular sciences 18 33266180
2017 Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene. BMC medical genetics 17 28716012
1988 Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2). Human genetics 17 3137147
2011 Population analysis of the GLB1 gene in South Brazil. Genetics and molecular biology 14 21637542
2007 Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. Clinical genetics 11 17661814
2012 Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. World journal of pediatrics : WJP 8 23151865
2022 Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape. NPJ genomic medicine 7 35882863
2016 Association of the GLB1 rs4678680 genetic variant with risk of HBV-related hepatocellular carcinoma. Oncotarget 7 27489354
2012 Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study. The Journal of veterinary medical science 7 23123943
2009 Development of PCR markers to detect the glb1 and Lgc1 mutations for the production of low easy-to-digest protein rice varieties. TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik 7 19373444
1998 Abscisic acid-regulated Glb1 transient expression in cultured maize P3377 cells. Plant cell reports 7 30736520
2021 A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis. Metabolic brain disease 6 33394287
2021 Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype. JIMD reports 6 34258138
2012 A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene. Annals of clinical and laboratory science 6 22371915
2012 Molecular cloning and characterization of a nonsymbiotic hemoglobin gene (GLB1) from Malus hupehensis Rehd. with heterologous expression in tomato. Molecular biology reports 6 22531937
2008 SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing. BMC research notes 6 19114006
2022 β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy. JIMD reports 5 36341176
2018 Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. Molecular genetics & genomic medicine 5 30187681
2024 A GLB1 transgene with enhanced therapeutic potential for the preclinical development of ex-vivo gene therapy to treat mucopolysaccharidosis type IVB. Molecular therapy. Methods & clinical development 4 39282079
2023 Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient. The CRISPR journal 3 36629845
2026 Structural and functional comparison of hemoglobin Glb2-1 of Lotus japonicus with Glb1-1 and leghemoglobins. Journal of experimental botany 1 41025407
2025 Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review. International journal of molecular sciences 1 40362326
2024 Creation of an in vitro model of GM1 gangliosidosis by CRISPR/Cas9 knocking-out the GLB1 gene in SH-SY5Y human neuronal cell line. Cell biochemistry and function 1 39076066
2024 Base editing of the GLB1 gene is therapeutic in GM1 gangliosidosis patient-derived cells. Molecular genetics and metabolism 1 39303319
2019 [Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 1 30675867
2018 Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. Journal of genetics 1 30555092
2026 Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report. Frontiers in pediatrics 0 42255911
2025 Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene. Frontiers in pediatrics 0 39902059
2024 Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation. Stem cell research 0 39213692
2022 [Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 35598274
2019 [Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 30703229
2012 [GLB1 gene mutation and clinical characteristics of a patient with mucopolysaccharidosis type IVB]. Zhonghua er ke za zhi = Chinese journal of pediatrics 0 22932019

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