{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T07:02:50Z","timestamp":1782457370291,"version":"3.54.5"},"reference-count":74,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2023,4,22]],"date-time":"2023-04-22T00:00:00Z","timestamp":1682121600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Bundesministerium f\u00fcr Forschung und Bildung"},{"name":"TreatHSP","award":["01GM1905"],"award-info":[{"award-number":["01GM1905"]}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinshaft","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"name":"PROSPAX"},{"name":"European Joint Program on Rare Diseases","award":["441409627"],"award-info":[{"award-number":["441409627"]}]},{"name":"European Joint Program on Rare Diseases","award":["SFB1218"],"award-info":[{"award-number":["SFB1218"]}]},{"name":"European Joint Program on Rare Diseases","award":["269925409"],"award-info":[{"award-number":["269925409"]}]},{"name":"C.M.G. and E.I.R.","award":["DFG-233886668\/GRK1960"],"award-info":[{"award-number":["DFG-233886668\/GRK1960"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Hereditary spastic paraplegia is a neurological condition characterized by predominant axonal degeneration in long spinal tracts, leading to weakness and spasticity in the lower limbs. The nicotinamide adenine dinucleotide (NAD+)-consuming enzyme SARM1 has emerged as a key executioner of axonal degeneration upon nerve transection and in some neuropathies. An increase in the nicotinamide mononucleotide\/NAD+ ratio activates SARM1, causing catastrophic NAD+ depletion and axonal degeneration. However, the role of SARM1 in the pathogenesis of hereditary spastic paraplegia has not been investigated.<\/jats:p>\n               <jats:p>Here, we report an enhanced mouse model for hereditary spastic paraplegia caused by mutations in SPG7. The eSpg7 knockout mouse carries a deletion in both Spg7 and Afg3l1, a redundant homologue expressed in mice but not in humans. The eSpg7 knockout mice recapitulate the phenotypic features of human patients, showing progressive symptoms of spastic-ataxia and degeneration of axons in the spinal cord as well as the cerebellum. We show that the lack of SPG7 rewires the mitochondrial proteome in both tissues, leading to an early onset decrease in mito-ribosomal subunits and a remodelling of mitochondrial solute carriers and transporters.<\/jats:p>\n               <jats:p>To interrogate mechanisms leading to axonal degeneration in this mouse model, we explored the involvement of SARM1. Deletion of SARM1 delays the appearance of ataxic signs, rescues mitochondrial swelling and axonal degeneration of cerebellar granule cells and dampens neuroinflammation in the cerebellum. The loss of SARM1 also prevents endoplasmic reticulum abnormalities in long spinal cord axons, but does not halt the degeneration of these axons. Our data thus reveal a neuron-specific interplay between SARM1 and mitochondrial dysfunction caused by lack of SPG7 in hereditary spastic paraplegia.<\/jats:p>","DOI":"10.1093\/brain\/awad136","type":"journal-article","created":{"date-parts":[[2023,4,22]],"date-time":"2023-04-22T20:58:30Z","timestamp":1682197110000},"page":"4117-4131","source":"Crossref","is-referenced-by-count":9,"title":["SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of <i>SPG7<\/i> deficiency"],"prefix":"10.1093","volume":"146","author":[{"given":"Carolina","family":"Montoro-G\u00e1mez","sequence":"first","affiliation":[{"name":"Institute for Genetics, University of Cologne , Cologne 50931 , Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik","family":"Nolte","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Biology of Ageing , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thibaut","family":"Molini\u00e9","sequence":"additional","affiliation":[{"name":"Institute for Genetics, University of Cologne , Cologne 50931 , Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Evangelista","sequence":"additional","affiliation":[{"name":"Institute for Genetics, University of Cologne , Cologne 50931 , Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon E","family":"Tr\u00f6der","sequence":"additional","affiliation":[{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) , Cologne 50931 , Germany"},{"name":"in vivo Research Facility, Medical Faculty and University Hospital Cologne, University of Cologne , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Barth","sequence":"additional","affiliation":[{"name":"Institute for Genetics, University of Cologne , Cologne 50931 , Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milica","family":"Popovic","sequence":"additional","affiliation":[{"name":"Institute for Genetics, University of Cologne , Cologne 50931 , Germany"},{"name":"Institute for Mitochondrial Diseases and Aging, Medical Faculty, University of Cologne , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5472-3517","authenticated-orcid":false,"given":"Aleksandra","family":"Trifunovic","sequence":"additional","affiliation":[{"name":"Institute for Genetics, University of Cologne , Cologne 50931 , Germany"},{"name":"Institute for Mitochondrial Diseases and Aging, Medical Faculty, University of Cologne , Cologne 50931 , Germany"},{"name":"Center for Molecular Medicine (CMMC), University of Cologne , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Branko","family":"Zevnik","sequence":"additional","affiliation":[{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) , Cologne 50931 , Germany"},{"name":"in vivo Research Facility, Medical Faculty and University Hospital Cologne, University of Cologne , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Langer","sequence":"additional","affiliation":[{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) , Cologne 50931 , Germany"},{"name":"Max Planck Institute for Biology of Ageing , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7845-9522","authenticated-orcid":false,"given":"Elena I","family":"Rugarli","sequence":"additional","affiliation":[{"name":"Institute for Genetics, University of Cologne , Cologne 50931 , Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) , Cologne 50931 , Germany"},{"name":"Center for Molecular Medicine (CMMC), University of Cologne , Cologne 50931 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,4,22]]},"reference":[{"key":"2023100302123421100_awad136-B1","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1055\/s-0031-1299787","article-title":"Genetics of hereditary spastic paraplegias","volume":"31","author":"Schule","year":"2011","journal-title":"Semin Neurol"},{"key":"2023100302123421100_awad136-B2","volume-title":"Scriver\u2019s online metabolic and molecular bases of inherited diseases","author":"Reid","year":"2010"},{"key":"2023100302123421100_awad136-B3","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/B978-0-444-64076-5.00041-7","article-title":"Hereditary spastic paraplegia","volume":"148","author":"Blackstone","year":"2018","journal-title":"Handb Clin Neurol"},{"key":"2023100302123421100_awad136-B4","doi-asserted-by":"crossref","DOI":"10.3389\/fmolb.2021.690899","article-title":"Insights into clinical, genetic, and pathological aspects of hereditary spastic paraplegias: A comprehensive overview","volume":"8","author":"Elsayed","year":"2021","journal-title":"Front Mol Biosci."},{"key":"2023100302123421100_awad136-B5","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.conb.2018.04.025","article-title":"Converging cellular themes for the hereditary spastic paraplegias","volume":"51","author":"Blackstone","year":"2018","journal-title":"Curr Opin Neurobiol"},{"key":"2023100302123421100_awad136-B6","doi-asserted-by":"crossref","first-page":"74","DOI":"10.3389\/fnins.2020.00074","article-title":"Lipids in the physiopathology of hereditary spastic paraplegias","volume":"14","author":"Darios","year":"2020","journal-title":"Front Neurosci"},{"key":"2023100302123421100_awad136-B7","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S0092-8674(00)81203-9","article-title":"Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial 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