{"id":"https://openalex.org/W7089571123","doi":"https://doi.org/10.5281/zenodo.17254311","title":"H-ABC tubulinopathy exhibits a cytoskeletal defect associated with microtubule stability","display_name":"H-ABC tubulinopathy exhibits a cytoskeletal defect associated with microtubule stability","publication_year":2025,"publication_date":"2025-10-03","ids":{"openalex":"https://openalex.org/W7089571123","doi":"https://doi.org/10.5281/zenodo.17254311"},"language":"en","primary_location":{"id":"doi:10.5281/zenodo.17254311","doi":"https://doi.org/10.5281/zenodo.17254311","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.17254311","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},"volume":null,"type":"article","indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.5281/zenodo.17254311","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5000357973","display_name":"Carla Jaramillo-Restrepo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799391333","display_name":"Centro de Investigaciones en Optica","ror":"https://ror.org/00q8h8k29","country_code":"MX","type":"facility","lineage":["https://openalex.org/I2799391333"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Jaramillo-Restrepo, Carla","raw_affiliation_strings":["Centro de Investigaciones en Optica"],"raw_orcid":"https://orcid.org/0000-0002-8950-3063","affiliations":[{"raw_affiliation_string":"Centro de Investigaciones en Optica","institution_ids":["https://openalex.org/I2799391333"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066484425","display_name":"Valeria Piazza","orcid":"https://orcid.org/0000-0001-7160-5486","observed_orcids":["https://orcid.org/0000-0001-7160-5486"]},"institutions":[{"id":"https://openalex.org/I2799391333","display_name":"Centro de Investigaciones en Optica","ror":"https://ror.org/00q8h8k29","country_code":"MX","type":"facility","lineage":["https://openalex.org/I2799391333"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Piazza, Valeria","raw_affiliation_strings":["Centro de Investigaciones en Optica"],"raw_orcid":"https://orcid.org/0000-0001-7160-5486","affiliations":[{"raw_affiliation_string":"Centro de Investigaciones en Optica","institution_ids":["https://openalex.org/I2799391333"]}]},{"author_position":"last","author":{"id":null,"display_name":"H Hernandez, V\u00edctor","orcid":"https://orcid.org/0000-0002-7089-4375","observed_orcids":["https://orcid.org/0000-0002-7089-4375"]},"institutions":[{"id":"https://openalex.org/I129858807","display_name":"Universidad de Guanajuato","ror":"https://ror.org/058cjye32","country_code":"MX","type":"education","lineage":["https://openalex.org/I129858807"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"H Hernandez, V\u00edctor","raw_affiliation_strings":["Departamento de Ciencias e Ingenier\u00eda, Universidad de Guanajuato"],"raw_orcid":"https://orcid.org/0000-0002-7089-4375","affiliations":[{"raw_affiliation_string":"Departamento de Ciencias e Ingenier\u00eda, Universidad de Guanajuato","institution_ids":["https://openalex.org/I129858807"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.38760498,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":true,"primary_topic":{"id":"https://openalex.org/T10492","display_name":"Microtubule and mitosis dynamics","score":0.9351000189781189,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10492","display_name":"Microtubule and mitosis dynamics","score":0.9351000189781189,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.017999999225139618,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.012799999676644802,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/tubulinopathy","display_name":"tubulinopathy","score":0.8360000252723694},{"id":"https://openalex.org/keywords/microtubule-stability","display_name":"microtubule stability","score":0.8579999804496765},{"id":"https://openalex.org/keywords/tubulin-post-translational-modifications","display_name":"tubulin post-translational modifications","score":0.8840000033378601},{"id":"https://openalex.org/keywords/tubulin-acetylation","display_name":"tubulin acetylation","score":0.9819999933242798},{"id":"https://openalex.org/keywords/tubulin-phosphorylation","display_name":"tubulin phosphorylation","score":0.9950000047683716},{"id":"https://openalex.org/keywords/tubulin-detyrosination","display_name":"tubulin detyrosination","score":0.9459999799728394},{"id":"https://openalex.org/keywords/hypomyelination","display_name":"hypomyelination","score":0.7760000228881836},{"id":"https://openalex.org/keywords/basal-ganglia-atrophy","display_name":"basal ganglia atrophy","score":0.8999999761581421},{"id":"https://openalex.org/keywords/cerebellar-atrophy","display_name":"cerebellar atrophy","score":0.8759999871253967},{"id":"https://openalex.org/keywords/oligodendrocytes","display_name":"oligodendrocytes","score":0.9259999990463257},{"id":"https://openalex.org/keywords/paclitaxel","display_name":"paclitaxel","score":0.8930000066757202},{"id":"https://openalex.org/keywords/cytoskeleton","display_name":"cytoskeleton","score":0.753000020980835}],"concepts":[{"id":"https://openalex.org/C20418707","wikidata":"https://www.wikidata.org/wiki/Q189933","display_name":"Microtubule","level":2,"score":0.6471999883651733},{"id":"https://openalex.org/C4224716","wikidata":"https://www.wikidata.org/wiki/Q10859258","display_name":"Immunostaining","level":3,"score":0.6079999804496765},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.5688999891281128},{"id":"https://openalex.org/C142669718","wikidata":"https://www.wikidata.org/wiki/Q154626","display_name":"Cytoskeleton","level":3,"score":0.5519999861717224},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.5442000031471252},{"id":"https://openalex.org/C2779178360","wikidata":"https://www.wikidata.org/wiki/Q902045","display_name":"Confocal microscopy","level":2,"score":0.5130000114440918},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.4738999903202057},{"id":"https://openalex.org/C136009344","wikidata":"https://www.wikidata.org/wiki/Q336201","display_name":"Confocal","level":2,"score":0.4422000050544739},{"id":"https://openalex.org/C2776985911","wikidata":"https://www.wikidata.org/wiki/Q916698","display_name":"Oligodendrocyte","level":4,"score":0.39879998564720154},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.39079999923706055},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.38960000872612},{"id":"https://openalex.org/C2778183499","wikidata":"https://www.wikidata.org/wiki/Q223851","display_name":"Corpus callosum","level":2,"score":0.3709000051021576},{"id":"https://openalex.org/C35866371","wikidata":"https://www.wikidata.org/wiki/Q6005502","display_name":"Immunocytochemistry","level":2,"score":0.3707999885082245},{"id":"https://openalex.org/C61081601","wikidata":"https://www.wikidata.org/wiki/Q1102066","display_name":"Microtubule-associated protein","level":3,"score":0.3440999984741211},{"id":"https://openalex.org/C12554922","wikidata":"https://www.wikidata.org/wiki/Q7100","display_name":"Biophysics","level":1,"score":0.30570000410079956},{"id":"https://openalex.org/C81885089","wikidata":"https://www.wikidata.org/wiki/Q189082","display_name":"Cell culture","level":2,"score":0.29350000619888306},{"id":"https://openalex.org/C2779363559","wikidata":"https://www.wikidata.org/wiki/Q2506092","display_name":"Nocodazole","level":4,"score":0.28839999437332153},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.28790000081062317},{"id":"https://openalex.org/C84425145","wikidata":"https://www.wikidata.org/wiki/Q422492","display_name":"Tubulin","level":3,"score":0.27300000190734863},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.27149999141693115},{"id":"https://openalex.org/C54009773","wikidata":"https://www.wikidata.org/wiki/Q1429031","display_name":"Transfection","level":3,"score":0.267300009727478},{"id":"https://openalex.org/C2779530196","wikidata":"https://www.wikidata.org/wiki/Q178999","display_name":"Axon","level":2,"score":0.262800008058548},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.25780001282691956}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.5281/zenodo.17254311","doi":"https://doi.org/10.5281/zenodo.17254311","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.17254311","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":null,"raw_source_name":null,"raw_type":"JournalArticle"},{"id":"doi:10.5281/zenodo.17254312","doi":"https://doi.org/10.5281/zenodo.17254312","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.17254312","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":null,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"doi:10.5281/zenodo.17254311","doi":"https://doi.org/10.5281/zenodo.17254311","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.17254311","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},"sustainable_development_goals":[{"score":0.8560000061988831,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":[],"abstract_inverted_index":{"This":[0],"dataset":[1,61],"supports":[2],"the":[3,6,14,28,35,41,60,69,86,100],"study":[4],"exploring":[5],"molecular":[7],"mechanisms":[8],"underlying":[9],"hypomyelination":[10],"with":[11,75,119],"atrophy":[12],"of":[13,34,51],"basal":[15],"ganglia":[16],"and":[17,43,56,68,82],"cerebellum":[18,42],"(H-ABC),":[19],"a":[20,31,115],"tubulinopathy":[21,87,113],"caused":[22],"by":[23],"mutations":[24],"in":[25,85,99],"TUBB4A.":[26],"Using":[27],"taiep":[29],"rat,":[30],"spontaneous":[32],"model":[33],"disease,":[36],"we":[37],"performed":[38],"immunostaining":[39],"on":[40],"corpus":[44],"callosum":[45],"to":[46],"analyze":[47],"post-translational":[48],"modifications":[49],"(PTMs)":[50],"tubulin,":[52],"including":[53],"acetylation,":[54],"phosphorylation,":[55],"detyrosination.":[57],"In":[58],"addition,":[59],"includes":[62],"confocal":[63],"images":[64],"from":[65],"HeLa":[66],"cells":[67],"oligodendrocyte":[70],"cell":[71],"line":[72],"MO3.13":[73],"treated":[74],"paclitaxel,":[76],"allowing":[77],"comparisons":[78],"between":[79],"microtubule":[80,83,120],"stability":[81],"defect":[84,117],"H-ABC.":[88],"If":[89],"you":[90],"use":[91],"this":[92],"dataset,":[93],"please":[94],"cite":[95],"it":[96],"as":[97],"indicated":[98],"\u201cCite":[101],"as\u201d:":[102],"Jaramillo-Restrepo,":[103],"C.,":[104],"Piazza,":[105],"V.,":[106],"&":[107],"H":[108],"Hernandez,":[109],"V.":[110],"(2025).":[111],"H-ABC":[112],"exhibits":[114],"cytoskeletal":[116],"associated":[118],"stability.":[121],"https://doi.org/10.5281/zenodo.17254312":[122]},"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2025-10-13T00:00:00"}
