{"doi":"10.1016/j.semcdb.2010.07.008","title":"Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies","abstract":null,"journal":"Seminars in Cell & Developmental Biology","year":2010,"id":605568,"datarank":0.6716005221717312,"base_score":4.477336814478207,"endowment":4.477336814478207,"self_citation_contribution":0.6716005221717312,"citation_network_contribution":0.0,"self_endowment_contribution":0.6716005221717312,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":87,"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":333404,"name":"Tiziano Pramparo","orcid":"0000-0001-6929-1027","position":1,"is_corresponding":false},{"id":983812,"name":"Yong Ha Youn","orcid":null,"position":2,"is_corresponding":false},{"id":1554178,"name":"Shinji Hirotsune","orcid":null,"position":3,"is_corresponding":false},{"id":1554176,"name":"Anthony Wynshaw-Boris","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies","abstract":"Lissencephaly is a severe human neuronal migration defect characterized by a smooth cerebral surface, mental retardation and seizures. The two most common genes mutated in patients with lissencephaly are LIS1 and DCX. LIS1 was the first gene cloned that was important for neuronal migration in any organism, and heterozygous mutations or deletions of LIS1 are found in the majority of patients with lissencephaly, while DCX mutations were found in males with X-linked lissencephaly. In this review, we will discuss how an understanding of the molecular and cellular pathways disrupted in model organisms with Lis1 and Dcx mutations or knock-down not only provide insights into the normal processes of neuronal migration, including neurogenesis, but they also may lead to potential novel therapeutic strategies for these severe cortical malformations.","is_dataset_classified":null,"base_score":4.477336814478207,"endowment":4.477336814478207,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"20688183","pmcid":"PMC2967611","openalex_id":"https://openalex.org/W2079505152","authors":[],"funders":[{"funder_name":"NINDS NIH HHS","grant_id":"R01 NS041030","title":null},{"funder_name":"NICHD NIH HHS","grant_id":"R01 HD047380","title":null}],"total_grants":2,"fwci":4.4496,"citation_percentile":0.95108071,"influential_citations":0,"citation_trend":[{"year":2012,"count":11},{"year":2013,"count":11},{"year":2014,"count":9},{"year":2015,"count":5},{"year":2016,"count":9},{"year":2017,"count":3},{"year":2018,"count":3},{"year":2019,"count":2},{"year":2020,"count":2},{"year":2021,"count":3},{"year":2022,"count":1},{"year":2023,"count":4},{"year":2024,"count":8},{"year":2025,"count":2}],"oa_status":"green","license":"https://www.elsevier.com/tdm/userlicense/1.0/","oa_locations":[{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2967611","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2967611","host_type":"repository"},{"url":"https://api.elsevier.com/content/article/PII:S1084952110001242?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1084952110001242?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.semcdb.2010.07.008","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/20688183","host_type":"repository"}],"fields_of_study":["Microtubule and mitosis dynamics","Neurogenesis and neuroplasticity mechanisms","RNA Research and Splicing","1-Alkyl-2-acetylglycerophosphocholine Esterase","Animals","Classical Lissencephalies and Subcortical Band Heterotopias","Disease Models, Animal","Doublecortin Domain Proteins","Doublecortin Protein","Humans","Lissencephaly","Male","Mice","Microtubule-Associated Proteins","Neurogenesis","Neuropeptides","Rats"],"mesh_terms":["Doublecortin Domain Proteins","Doublecortin Protein","Animals","Disease Models, Animal","Humans","Male","Microtubule-Associated Proteins","Neuropeptides","1-Alkyl-2-acetylglycerophosphocholine Esterase","Mice","Rats","Lissencephaly","Classical Lissencephalies and Subcortical Band Heterotopias","Neurogenesis"],"keywords":["Lissencephaly","Biology","Doublecortin","Pachygyria","Mutation","Neuroscience","Epilepsy","Gene","Neurogenesis","Genetics","Central nervous system"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-30T02:44:03.091111Z","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":[]}