{"doi":"10.1034/j.1600-0404.2002.01097.x","title":"Western blotting analysis of the β-hexosaminidase α- and β-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis","abstract":null,"journal":"Acta Neurologica Scandinavica","year":2002,"id":641004,"datarank":0.3596842909197557,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"self_citation_contribution":0.3596842909197557,"citation_network_contribution":0.0,"self_endowment_contribution":0.3596842909197557,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":10,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1666296,"name":"A. Tsuji","orcid":null,"position":1,"is_corresponding":false},{"id":1666297,"name":"R. Kase","orcid":null,"position":2,"is_corresponding":false},{"id":26949,"name":"A. Tanaka","orcid":"0000-0002-9166-7083","position":3,"is_corresponding":false},{"id":1017831,"name":"T. Tanaka","orcid":"0000-0001-5151-6099","position":4,"is_corresponding":false},{"id":1666298,"name":"E. Uyama","orcid":null,"position":5,"is_corresponding":false},{"id":168104,"name":"T. Ozawa","orcid":null,"position":6,"is_corresponding":false},{"id":1666299,"name":"H. Sakuraba","orcid":null,"position":7,"is_corresponding":false},{"id":1666300,"name":"Y. Komaba","orcid":null,"position":8,"is_corresponding":false},{"id":1666301,"name":"M. Kawabe","orcid":null,"position":9,"is_corresponding":false},{"id":1666302,"name":"Y. Iino","orcid":null,"position":10,"is_corresponding":false},{"id":1666303,"name":"Y. Katayama","orcid":null,"position":11,"is_corresponding":false},{"id":1666295,"name":"K. Utsumi","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Western blotting analysis of the β-hexosaminidase α- and β-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis","abstract":"OBJECTIVES: The GM2 gangliosidoses are a group of genetic disorders caused by the accumulation of ganglioside GM2 in neuronal cells. We examined the alpha- and beta-subunits of beta-hexosaminidases by a non-radioisotopes detecting system to evaluate whether it was a useful method for understanding of the pathophysiologies of GM2 gangliosidoses. MATERIALS AND METHODS: We investigated the alpha- and beta-subunits of beta-hexosaminidases in cultured fibroblasts from cases of various forms of GM2 gangliosidosis by means of Western blotting and a chemiluminescence detection system. RESULTS: In a patient with infantile Tay-Sachs disease [HEXA genotype, Int5-SA(g-1-->t)/Int5-SA(g-1-->t)], the mature alpha-subunit was undetectable. In a patient with infantile Sandhoff disease (HEXB genotype, C534Y/C534Y), the mature beta-subunit was deficient. However, a small amount of the mature beta-subunit was detected in a patient with adult Sandhoff disease (HEXB genotype, R505Q(+I207V)/R505Q(+I207V)), which may have resulted in the residual enzyme activity and mild clinical course. Normal amounts of alpha- and beta-subunits were detected in a patient with GM2 activator deficiency. CONCLUSION: This method is easy and sensitive for detecting target proteins, and is useful for clarification of the pathophysiologies of GM2 gangliosidoses.","is_dataset_classified":null,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"12027830","pmcid":null,"openalex_id":"https://openalex.org/W1973224327","authors":[],"funders":[],"total_grants":0,"fwci":0.0,"citation_percentile":0.06853152,"influential_citations":0,"citation_trend":[{"year":2016,"count":1},{"year":2018,"count":1},{"year":2019,"count":2},{"year":2021,"count":2},{"year":2024,"count":1},{"year":2026,"count":1}],"oa_status":"closed","license":"http://doi.wiley.com/10.1002/tdm_license_1.1","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1600-0404.2002.01097.x","host_type":"publisher"},{"url":"http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1600-0404.2002.01097.x/fullpdf","host_type":"publisher"},{"url":"https://doi.org/10.1034/j.1600-0404.2002.01097.x","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/12027830","host_type":"repository"}],"fields_of_study":["Lysosomal Storage Disorders Research","Glycosylation and Glycoproteins Research","Peripheral Neuropathies and Disorders","Adult","Antibodies","Blotting, Western","Cells, Cultured","Female","Fibroblasts","Gangliosidoses, GM2","Hexosaminidase A","Hexosaminidase B","Humans","Infant","Luminescent Measurements","Male","Sandhoff Disease","Skin","Tay-Sachs Disease","beta-N-Acetylhexosaminidases"],"mesh_terms":["Adult","Antibodies","beta-N-Acetylhexosaminidases","Cells, Cultured","Female","Fibroblasts","Humans","Infant","Luminescent Measurements","Male","Sandhoff Disease","Skin","Tay-Sachs Disease","Blotting, Western","Gangliosidoses, GM2","Hexosaminidase A","Hexosaminidase B"],"keywords":["Sandhoff disease","Gangliosidosis","Hexosaminidase","Tay-Sachs disease","HEXA","Biology","Genotype","Adenine phosphoribosyltransferase","Molecular biology","Endocrinology","Internal medicine","Enzyme","Biochemistry","Medicine","Disease","Gene"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-07T15:19:04.211120Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}