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Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.
De Pace R, Skirzewski M, Damme M, Mattera R, Mercurio J, Foster AM, Cuitino L, Jarnik M, Hoffmann V, Morris HD, Han TU, Mancini GMS, Buonanno A, Bonifacino JS. De Pace R, et al. Among authors: hoffmann v. PLoS Genet. 2018 Apr 26;14(4):e1007363. doi: 10.1371/journal.pgen.1007363. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29698489 Free PMC article.
Aberrant expression and localization of the RAP1 shelterin protein contribute to age-related phenotypes.
Stock AJ, McDevitt RA, Puligilla C, Wang Y, Zhang Y, Wang K, Sun C, Becker KG, Lehrmann E, Wood WH 3rd, Gong Y, Aqdas M, Sung MH, Hoffmann V, Liu C, Gorospe M, Harrington L, Ferrucci L, Liu Y. Stock AJ, et al. Among authors: hoffmann v. PLoS Genet. 2022 Nov 28;18(11):e1010506. doi: 10.1371/journal.pgen.1010506. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36441670 Free PMC article.
Mitochondrial dysfunction in mut methylmalonic acidemia.
Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP. Chandler RJ, et al. Among authors: hoffmann v. FASEB J. 2009 Apr;23(4):1252-61. doi: 10.1096/fj.08-121848. Epub 2008 Dec 16. FASEB J. 2009. PMID: 19088183 Free PMC article.
405 results