{"id":"https://openalex.org/W7214940412","doi":"https://doi.org/10.64898/2026.09.29.755113","title":"Autophagy dependent HIF1\u03b1 proteostasis is compromised in models of PEX1 deficiencies","display_name":"Autophagy dependent HIF1\u03b1 proteostasis is compromised in models of PEX1 deficiencies","publication_year":2026,"publication_date":"2026-09-30","ids":{"openalex":"https://openalex.org/W7214940412","doi":"https://doi.org/10.64898/2026.09.29.755113","pmid":"https://pubmed.ncbi.nlm.nih.gov/42856561","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13648651"},"language":"en","primary_location":{"id":"doi:10.64898/2026.09.29.755113","doi":"https://doi.org/10.64898/2026.09.29.755113","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.09.29.755113","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/09/30/2026.09.29.755113.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nd","license_id":"https://openalex.org/licenses/cc-by-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.biorxiv.org/content/biorxiv/early/2026/09/30/2026.09.29.755113.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103135062","display_name":"Soham P. Chowdhury","orcid":"https://orcid.org/0009-0008-8321-8406","observed_orcids":["https://orcid.org/0009-0008-8321-8406"]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Soham P. Chowdhury","raw_affiliation_strings":["Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA"],"raw_orcid":"https://orcid.org/0009-0008-8321-8406","affiliations":[{"raw_affiliation_string":"Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA","institution_ids":["https://openalex.org/I154570441"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5125569790","display_name":"Sambhav Jain","orcid":"https://orcid.org/0009-0002-2312-456X","observed_orcids":["https://orcid.org/0009-0002-2312-456X"]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sambhav Jain","raw_affiliation_strings":["Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA"],"raw_orcid":"https://orcid.org/0009-0002-2312-456X","affiliations":[{"raw_affiliation_string":"Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA","institution_ids":["https://openalex.org/I154570441"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008370472","display_name":"Milagros Esmerode","orcid":"https://orcid.org/0009-0008-5740-3501","observed_orcids":["https://orcid.org/0009-0008-5740-3501"]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Milagros Esmerode","raw_affiliation_strings":["Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA"],"raw_orcid":"https://orcid.org/0009-0008-5740-3501","affiliations":[{"raw_affiliation_string":"Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA","institution_ids":["https://openalex.org/I154570441"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5138093450","display_name":"HENRY DONG","orcid":"https://orcid.org/0009-0007-6924-8900","observed_orcids":["https://orcid.org/0009-0007-6924-8900"]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Henry Dong","raw_affiliation_strings":["Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA"],"raw_orcid":"https://orcid.org/0009-0007-6924-8900","affiliations":[{"raw_affiliation_string":"Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA","institution_ids":["https://openalex.org/I154570441"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021032041","display_name":"Jonathan T. Vu","orcid":"https://orcid.org/0000-0002-4950-7967","observed_orcids":["https://orcid.org/0000-0002-4950-7967"]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jonathan T. Vu","raw_affiliation_strings":["Interdisciplinary Quantitative Biosciences Program, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA"],"raw_orcid":"https://orcid.org/0000-0002-4950-7967","affiliations":[{"raw_affiliation_string":"Interdisciplinary Quantitative Biosciences Program, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA","institution_ids":["https://openalex.org/I154570441"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049074612","display_name":"Connor J. Sheedy","orcid":"https://orcid.org/0000-0002-9161-7182","observed_orcids":["https://orcid.org/0000-0002-9161-7182"]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Connor J. Sheedy","raw_affiliation_strings":["Interdisciplinary Quantitative Biosciences Program, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA"],"raw_orcid":"https://orcid.org/0000-0002-9161-7182","affiliations":[{"raw_affiliation_string":"Interdisciplinary Quantitative Biosciences Program, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA","institution_ids":["https://openalex.org/I154570441"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002966076","display_name":"Chris D. Richardson","orcid":"https://orcid.org/0000-0003-3122-4851","observed_orcids":["https://orcid.org/0000-0003-3122-4851"]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chris D. Richardson","raw_affiliation_strings":["Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA"],"raw_orcid":"https://orcid.org/0000-0003-3122-4851","affiliations":[{"raw_affiliation_string":"Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA","institution_ids":["https://openalex.org/I154570441"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5007386757","display_name":"Brooke M. Gardner","orcid":"https://orcid.org/0000-0001-7999-8827","observed_orcids":["https://orcid.org/0000-0001-7999-8827"]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Brooke M. Gardner","raw_affiliation_strings":["Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA"],"raw_orcid":"https://orcid.org/0000-0001-7999-8827","affiliations":[{"raw_affiliation_string":"Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA, 93106, USA","institution_ids":["https://openalex.org/I154570441"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5007386757"],"corresponding_institution_ids":["https://openalex.org/I154570441"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10587","display_name":"Autophagy in Disease and Therapy","score":0.8740000128746033,"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/T10587","display_name":"Autophagy in Disease and Therapy","score":0.8740000128746033,"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/T10631","display_name":"Cancer, Hypoxia, and Metabolism","score":0.025299999862909317,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.02459999918937683,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pex1","display_name":"PEX1","score":0.8209999799728394},{"id":"https://openalex.org/keywords/peroxisome-biogenesis-disorders","display_name":"peroxisome biogenesis disorders","score":0.8930000066757202},{"id":"https://openalex.org/keywords/hif-1alpha","display_name":"HIF-1\u03b1","score":0.9399999976158142},{"id":"https://openalex.org/keywords/autophagy","display_name":"autophagy","score":0.9629999995231628},{"id":"https://openalex.org/keywords/protein-degradation","display_name":"protein degradation","score":0.4950000047683716},{"id":"https://openalex.org/keywords/proteostasis","display_name":"proteostasis","score":0.7490000128746033},{"id":"https://openalex.org/keywords/pex6","display_name":"PEX6","score":0.6740000247955322},{"id":"https://openalex.org/keywords/aaa-proteins","display_name":"AAA+ ATPase","score":0.8870000243186951},{"id":"https://openalex.org/keywords/peroxisome-biogenesis","display_name":"peroxisome biogenesis","score":0.8560000061988831},{"id":"https://openalex.org/keywords/hypoxia-reoxygenation","display_name":"hypoxia/reoxygenation","score":0.8349999785423279},{"id":"https://openalex.org/keywords/ulk1","display_name":"ULK1","score":0.8450000286102295},{"id":"https://openalex.org/keywords/proline-hydroxylation","display_name":"proline hydroxylation","score":0.7979999780654907},{"id":"https://openalex.org/keywords/vhl","display_name":"VHL","score":0.8059999942779541}],"concepts":[{"id":"https://openalex.org/C2781452922","wikidata":"https://www.wikidata.org/wiki/Q2892805","display_name":"Proteostasis","level":2,"score":0.7702000141143799},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6998999714851379},{"id":"https://openalex.org/C2777485865","wikidata":"https://www.wikidata.org/wiki/Q189167","display_name":"Zellweger syndrome","level":4,"score":0.5705999732017517},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.44290000200271606},{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.38429999351501465},{"id":"https://openalex.org/C131934819","wikidata":"https://www.wikidata.org/wiki/Q135390","display_name":"Biogenesis","level":3,"score":0.35350000858306885},{"id":"https://openalex.org/C2909310144","wikidata":"https://www.wikidata.org/wiki/Q7553358","display_name":"Phenylbutyrate","level":2,"score":0.35249999165534973},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3521000146865845},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3314000070095062},{"id":"https://openalex.org/C203522944","wikidata":"https://www.wikidata.org/wiki/Q288322","display_name":"Autophagy","level":3,"score":0.30720001459121704},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.28360000252723694},{"id":"https://openalex.org/C132647116","wikidata":"https://www.wikidata.org/wiki/Q18032677","display_name":"TFEB","level":4,"score":0.27970001101493835}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.64898/2026.09.29.755113","doi":"https://doi.org/10.64898/2026.09.29.755113","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.09.29.755113","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/09/30/2026.09.29.755113.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nd","license_id":"https://openalex.org/licenses/cc-by-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},{"id":"pmid:42856561","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42856561","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"bioRxiv : the preprint server for biology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13648651","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13648651/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nd","license_id":"https://openalex.org/licenses/cc-by-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"bioRxiv","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.64898/2026.09.29.755113","doi":"https://doi.org/10.64898/2026.09.29.755113","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.09.29.755113","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/09/30/2026.09.29.755113.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nd","license_id":"https://openalex.org/licenses/cc-by-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.7246000170707703}],"study_designs":[],"awards":[{"id":"https://openalex.org/G492636169","display_name":null,"funder_award_id":"R35 GM142975","funder_id":"https://openalex.org/F4320332500","funder_display_name":"University of California, Santa Barbara"},{"id":"https://openalex.org/G7442390676","display_name":null,"funder_award_id":"R00GM121880","funder_id":"https://openalex.org/F4320314849","funder_display_name":"Searle Scholars Program"},{"id":"https://openalex.org/G7962055198","display_name":"Investigating the role of AAA+-ATPases in peroxisome biology","funder_award_id":"R00GM121880","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G9000261141","display_name":null,"funder_award_id":"K99/R00GM121880","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000903961","display_name":"Investigating the mechanisms of peroxisome homeostasis","funder_award_id":"R35GM146784","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G9000905370","display_name":"Defining DNA resection and protein localization changes that occur during DSB repair","funder_award_id":"R35GM142975","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G9000909847","display_name":"MARC at the University of California Santa Barbara","funder_award_id":"T34GM136466","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320314849","display_name":"Searle Scholars Program","ror":null},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332500","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7214940412.pdf","grobid_xml":"https://content.openalex.org/works/W7214940412.grobid-xml"},"referenced_works_count":64,"referenced_works":["https://openalex.org/W1721827275","https://openalex.org/W1771754722","https://openalex.org/W1966669812","https://openalex.org/W1967190893","https://openalex.org/W1972032694","https://openalex.org/W1979157121","https://openalex.org/W1981487137","https://openalex.org/W1988377666","https://openalex.org/W2001775267","https://openalex.org/W2003108613","https://openalex.org/W2008760489","https://openalex.org/W2035245572","https://openalex.org/W2040031153","https://openalex.org/W2044561853","https://openalex.org/W2057001750","https://openalex.org/W2059155457","https://openalex.org/W2060254175","https://openalex.org/W2077084538","https://openalex.org/W2084195349","https://openalex.org/W2091229702","https://openalex.org/W2094238059","https://openalex.org/W2099876280","https://openalex.org/W2107967461","https://openalex.org/W2115820946","https://openalex.org/W2131632095","https://openalex.org/W2146299409","https://openalex.org/W2169456326","https://openalex.org/W2179438025","https://openalex.org/W2189202583","https://openalex.org/W2194234530","https://openalex.org/W2414026282","https://openalex.org/W2525127531","https://openalex.org/W2567875376","https://openalex.org/W2592263424","https://openalex.org/W2612960139","https://openalex.org/W2805540151","https://openalex.org/W2904405727","https://openalex.org/W2932270613","https://openalex.org/W2941023745","https://openalex.org/W2951912016","https://openalex.org/W3014660178","https://openalex.org/W3084148404","https://openalex.org/W3153591617","https://openalex.org/W3215682729","https://openalex.org/W4205692549","https://openalex.org/W4206702330","https://openalex.org/W4226198985","https://openalex.org/W4229562413","https://openalex.org/W4283204847","https://openalex.org/W4289836579","https://openalex.org/W4291020935","https://openalex.org/W4308695713","https://openalex.org/W4311995285","https://openalex.org/W4390774666","https://openalex.org/W4391045717","https://openalex.org/W4396954887","https://openalex.org/W4400357022","https://openalex.org/W4402996045","https://openalex.org/W4408182582","https://openalex.org/W4408980813","https://openalex.org/W4416451661","https://openalex.org/W7096050474","https://openalex.org/W7196984762","https://openalex.org/W7213448847"],"related_works":["https://openalex.org/W2084195349","https://openalex.org/W1506986155","https://openalex.org/W3126472244","https://openalex.org/W2094238059","https://openalex.org/W7214099809","https://openalex.org/W4408980813","https://openalex.org/W3005917872","https://openalex.org/W2941110744","https://openalex.org/W2600143897","https://openalex.org/W2622473403"],"abstract_inverted_index":{"Abstract":[0],"Peroxisomes,":[1],"along":[2],"with":[3,63,230],"mitochondria,":[4],"coordinate":[5],"and":[6,25,35,39,42,166,189],"compartmentalize":[7],"oxidative":[8],"metabolism":[9],"in":[10,19,56,89,100,112,123,150,205,243],"eukaryotic":[11],"cells.":[12,208],"Rare":[13],"genetic":[14],"disorders":[15],"caused":[16,53],"by":[17,33,54,128,148,183,196],"mutations":[18,55],"PEX":[20],"genes":[21],"impair":[22],"peroxisome":[23,78],"function":[24],"cause":[26],"Peroxisome":[27,48],"Biogenesis":[28,49],"Disorders,":[29],"which":[30,61],"are":[31,52,218,248],"characterized":[32],"liver":[34],"neurological":[36],"dysfunction,":[37],"hearing":[38],"vision":[40],"loss,":[41],"metabolic":[43],"abnormalities.":[44],"The":[45,121,140],"majority":[46],"of":[47,74,92,106,130,143,156,238],"Disorders":[50],"(PBDs)":[51],"the":[57,72,77,107,151,239],"gene":[58],"encoding":[59],"PEX1,":[60],"together":[62],"PEX6":[64],"forms":[65],"a":[66,117,187],"hetero-hexameric":[67],"AAA-ATPase":[68],"complex":[69],"that":[70,98,158,177,212,227],"drives":[71],"import":[73],"enzymes":[75],"into":[76],"lumen.":[79],"One":[80],"particular":[81],"destabilizing":[82],"mutation":[83],"-":[84,87],"PEX1":[85,101,131,135,178,206,215,231],"G843D":[86],"results":[88,225],"almost":[90],"30%":[91],"all":[93],"cases.":[94],"Here":[95],"we":[96,175,210],"show":[97],"deficiencies":[99,136],"lead":[102],"to":[103,201,220,236],"increased":[104,141],"levels":[105,142,204],"oxygen-responsive":[108],"transcription":[109],"factor":[110],"HIF1\u03b1":[111,118,124,138,144,157,181,203,222,240],"normoxia,":[113],"as":[114,116],"well":[115],"transcriptional":[119],"signature.":[120],"increase":[122],"protein":[125],"was":[126,199],"rescued":[127],"overexpression":[129],"WT":[132],",":[133],"suggesting":[134],"modulate":[137],"signaling.":[139],"were":[145],"not":[146],"explained":[147],"defects":[149],"oxygen":[152,246],"responsive":[153],"degradation":[154,185],"pathway":[155],"relies":[159],"on":[160],"proline":[161],"hydroxylase":[162],"domain":[163],"enzyme-dependent":[164],"hydroxylation":[165],"von":[167],"Hippel":[168],"Lindau":[169],"tumor":[170],"suppressor":[171],"protein-dependent":[172],"ubiquitination.":[173],"Instead,":[174],"found":[176],"deficiency":[179,232],"alters":[180],"proteostasis":[182],"reducing":[184],"through":[186],"hydroxylation-":[188],"autophagy-dependent":[190],"mechanism.":[191],"Notably,":[192],"enhancing":[193],"autophagic":[194],"capacity":[195],"ULK1":[197],"agonism":[198],"sufficient":[200],"reduce":[202],"deficient":[207,216],"Lastly,":[209],"demonstrate":[211],"upon":[213],"hypoxia-reoxygenation,":[214],"cells":[217],"slower":[219],"reset":[221],"levels.":[223],"Our":[224],"suggest":[226],"PBD":[228],"patients":[229],"may":[233],"be":[234],"susceptible":[235],"dysregulation":[237],"pathway,":[241],"particularly":[242],"tissues":[244],"where":[245],"gradients":[247],"physiological":[249],"or":[250],"developmentally":[251],"required.":[252]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2026-10-01T00:00:00"}
