{"doi":"10.1016/j.stemcr.2024.05.008","title":"Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons","abstract":null,"journal":"Stem Cell Reports","year":2024,"id":638291,"datarank":0.31191623125197543,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"self_citation_contribution":0.31191623125197543,"citation_network_contribution":0.0,"self_endowment_contribution":0.31191623125197543,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"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":1031520,"name":"Iona Thomas-Wright","orcid":null,"position":1,"is_corresponding":false},{"id":1657775,"name":"Alex J. 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Bennett","orcid":null,"position":9,"is_corresponding":false},{"id":238168,"name":"Kevin Talbot","orcid":"0000-0001-5490-1697","position":10,"is_corresponding":false},{"id":852849,"name":"Jakub Scaber","orcid":"0000-0003-0146-1821","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons","abstract":"Induced pluripotent stem cell (iPSC)-derived motor neurons (MNs) from patients with amyotrophic lateral sclerosis (ALS) and the C9ORF72 hexanucleotide repeat expansion (HRE) have multiple cellular phenotypes, but which of these accurately reflect the biology underlying the cell-specific vulnerability of ALS is uncertain. We therefore compared phenotypes due to the C9ORF72 HRE in MNs with sensory neurons (SNs), which are relatively spared in ALS. The iPSC models were able to partially reproduce the differential gene expression seen between adult SNs and MNs. We demonstrated that the typical hallmarks of C9ORF72-ALS, including RNA foci and dipeptide formation, as well as specific axonal transport defects, occurred equally in MNs and SNs, suggesting that these in vitro phenotypes are not sufficient to explain the cell-type selectivity of ALS in isolation.","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"38876108","pmcid":"PMC11252479","openalex_id":null,"authors":[],"funders":[{"funder_name":"Wellcome Trust","grant_id":"223149/Z/21/Z","title":null},{"funder_name":"Wellcome Trust","grant_id":"203141/Z/16/Z","title":null},{"funder_name":"Chinese Academy of Sciences","grant_id":"2018-I2M-2-002","title":null},{"funder_name":"Medical Research Council","grant_id":"MR/T020113/1","title":"Defining the primary afferent circuitry that drives neuropathic pain"},{"funder_name":"Medical Research Council","grant_id":"MR/N013468/1","title":"DTP Bid Led by University of Oxford"},{"funder_name":"Academy of Medical Sciences","grant_id":"SGL025\\u22161095","title":null},{"funder_name":"Academy of Medical Sciences","grant_id":"SGL025\\1095","title":null},{"funder_name":"Wellcome Trust","grant_id":"203141","title":"Human Genetics and Disease Biology: Core Renewal for the Wellcome Trust Centre for Human Genetics"},{"funder_name":"Wellcome Trust","grant_id":"223149","title":"The role of human ion channels and transporters in neuropathic pain"},{"funder_name":"Wellcome Trust","grant_id":"","title":null}],"total_grants":10,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://doi.org/10.1016/j.stemcr.2024.05.008","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S2213671124001504?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S2213671124001504?httpAccept=text/plain","host_type":"publisher"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11252479/pdf/main.pdf","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC11252479","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC11252479?pdf=render","host_type":"Europe_PMC"},{"url":"https://pubmed.ncbi.nlm.nih.gov/38876108","host_type":""},{"url":"http://dx.doi.org/10.1016/j.stemcr.2024.05.008","host_type":""},{"url":"https://ora.ox.ac.uk/objects/uuid:33dec2a9-3c13-42e0-9c0a-8dd10832b28d","host_type":""}],"fields_of_study":["03 medical and health sciences","0302 clinical medicine"],"mesh_terms":["Motor Neurons","Humans","Amyotrophic Lateral Sclerosis","Axonal Transport","DNA Repeat Expansion","Phenotype","Sensory Receptor Cells","Induced Pluripotent Stem Cells","C9orf72 Protein"],"keywords":["Motor neuron","Sensory neuron","Amyotrophic Lateral Sclerosis","Induced Pluripotent Stem Cells","Selective Vulnerability","Motor Neurons","Phenotype","DNA Repeat Expansion","C9orf72 Protein","Sensory Receptor Cells","Humans","Axonal Transport","Article"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"geo"},{"name":"dbgap"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-06T20:26:53.471741Z","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":[]}