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The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.
Nuebel E, Morgan JT, Fogarty S, Winter JM, Lettlova S, Berg JA, Chen YC, Kidwell CU, Maschek JA, Clowers KJ, Argyriou C, Chen L, Wittig I, Cox JE, Roh-Johnson M, Braverman N, Bonkowsky J, Gygi SP, Rutter J. Nuebel E, et al. Among authors: braverman n. EMBO Rep. 2021 Oct 5;22(10):e51991. doi: 10.15252/embr.202051991. Epub 2021 Aug 5. EMBO Rep. 2021. PMID: 34351705 Free PMC article.
Peroxisome biogenesis disorders.
Argyriou C, D'Agostino MD, Braverman N. Argyriou C, et al. Among authors: braverman n. Transl Sci Rare Dis. 2016 Nov 7;1(2):111-144. doi: 10.3233/TRD-160003. Transl Sci Rare Dis. 2016. PMID: 29152457 Free PMC article. No abstract available.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR. Falkenberg KD, et al. Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007. Am J Hum Genet. 2017. PMID: 29220678 Free PMC article.
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.
Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH. Wangler MF, et al. Among authors: braverman n. Genet Med. 2018 Oct;20(10):1274-1283. doi: 10.1038/gim.2017.262. Epub 2018 Feb 8. Genet Med. 2018. PMID: 29419819 Free PMC article.
AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder.
Argyriou C, Polosa A, Song JY, Omri S, Steele B, Cécyre B, McDougald DS, Di Pietro E, Bouchard JF, Bennett J, Hacia JG, Lachapelle P, Braverman NE. Argyriou C, et al. Mol Ther Methods Clin Dev. 2021 Sep 7;23:225-240. doi: 10.1016/j.omtm.2021.09.002. eCollection 2021 Dec 10. Mol Ther Methods Clin Dev. 2021. PMID: 34703844 Free PMC article.
135 results