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Reactive oxygen species regulate axonal regeneration through the release of exosomal NADPH oxidase 2 complexes into injured axons.
Hervera A, De Virgiliis F, Palmisano I, Zhou L, Tantardini E, Kong G, Hutson T, Danzi MC, Perry RB, Santos CXC, Kapustin AN, Fleck RA, Del Río JA, Carroll T, Lemmon V, Bixby JL, Shah AM, Fainzilber M, Di Giovanni S. Hervera A, et al. Among authors: danzi mc. Nat Cell Biol. 2018 Mar;20(3):307-319. doi: 10.1038/s41556-018-0039-x. Epub 2018 Feb 12. Nat Cell Biol. 2018. PMID: 29434374
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME. Gonzalez MA, et al. Brain. 2014 Nov;137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14. Brain. 2014. PMID: 25125609 Free PMC article.
Prot2HG: a database of protein domains mapped to the human genome.
Stanek D, Bis-Brewer DM, Saghira C, Danzi MC, Seeman P, Lassuthova P, Zuchner S. Stanek D, et al. Among authors: danzi mc. Database (Oxford). 2020 Jan 1;2020:baz161. doi: 10.1093/database/baz161. Database (Oxford). 2020. PMID: 32293014 Free PMC article.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Fazal S, Danzi MC, van Kuilenburg ABP, Reich S, Traschütz A, Bender B, Leen R, Toro C, Usdin K, Hayward B, Adams DR, van Karnebeek CDM, Ferreira CR, D'Sousa P, Network UD, Tekin M, Züchner S, Synofzik M. Fazal S, et al. Among authors: danzi mc. Hum Mol Genet. 2023 Jan 1;32(1):46-54. doi: 10.1093/hmg/ddac173. Hum Mol Genet. 2023. PMID: 35913761 Free PMC article.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Rebelo AP, Ruiz A, Dohrn MF, Wayand M, Farooq A, Danzi MC, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau G, Estiar MA, Van de Vondel L, Gan-Or Z, Baets J, Schüle R, Zuchner S. Rebelo AP, et al. Among authors: danzi mc. Genet Med. 2022 Dec;24(12):2487-2500. doi: 10.1016/j.gim.2022.08.019. Epub 2022 Sep 22. Genet Med. 2022. PMID: 36136088 Free article.
72 results