{"doi":"10.1016/j.neulet.2021.136195","title":"The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment","abstract":"• GM2 gangliosidoses are a disease continuum dependent on residual enzyme activity. • Developmental and degenerative events are part of Infantile GM2 gangliosidoses. • Infantile GM2 gangliosidoses targets gray matter, white matter, and the retina. • Late-onset GM2 gangliosidoses targets preferentially the spinal cord and cerebellum. • Late-onset GM2 gangliosidoses has features akin to other neurodegenerative diseases. • Animal and cell-based GM2 gangliosidoses models inform biology and therapeutics. • Some clinical features may distinguishing late-onset Tay-Sachs from Sandhoff disease. • Impact of future therapies depends on pre-treatment disease burden. • The time from symptom onset to molecular diagnosis remains unacceptably protracted.","journal":"Neuroscience Letters","year":2021,"id":155363,"datarank":0.6166310796259968,"base_score":4.110873864173311,"endowment":4.110873864173311,"self_citation_contribution":0.6166310796259968,"citation_network_contribution":0.0,"self_endowment_contribution":0.6166310796259968,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":60,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.958,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":657444,"name":"Mosufa Zainab","orcid":"0000-0003-3247-6305","position":1,"is_corresponding":false},{"id":70653,"name":"Cynthia J. Tifft","orcid":"0000-0002-3931-1207","position":2,"is_corresponding":false},{"id":260096,"name":"Camilo Toro","orcid":"0000-0002-3917-9031","position":0,"is_corresponding":true}],"reference_count":169,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-18T23:43:59.154159Z","pmid":"34450229","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":[]}