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Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases.
Schultz ML, Fawaz MV, Azaria RD, Hollon TC, Liu EA, Kunkel TJ, Halseth TA, Krus KL, Ming R, Morin EE, McLoughlin HS, Bushart DD, Paulson HL, Shakkottai VG, Orringer DA, Schwendeman AS, Lieberman AP. Schultz ML, et al. Among authors: kunkel tj. BMC Med. 2019 Nov 11;17(1):200. doi: 10.1186/s12916-019-1423-5. BMC Med. 2019. PMID: 31711490 Free PMC article.
Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage.
Ilnytska O, Lai K, Gorshkov K, Schultz ML, Tran BN, Jeziorek M, Kunkel TJ, Azaria RD, McLoughlin HS, Waghalter M, Xu Y, Schlame M, Altan-Bonnet N, Zheng W, Lieberman AP, Dobrowolski R, Storch J. Ilnytska O, et al. Among authors: kunkel tj. J Biol Chem. 2021 Jul;297(1):100813. doi: 10.1016/j.jbc.2021.100813. Epub 2021 May 21. J Biol Chem. 2021. PMID: 34023384 Free PMC article.
SIRT5 variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology.
Yuan T, Kumar S, Skinner M, Victor-Joseph R, Abuaita M, Keijer J, Zhang J, Kunkel TJ, Liu Y, Petrunak EM, Saunders TL, Lieberman AP, Stuckey JA, Neamati N, Al-Murshedi F, Alfadhel M, Spelbrink JN, Rodenburg R, de Boer VCJ, Lombard DB. Yuan T, et al. Among authors: kunkel tj. bioRxiv [Preprint]. 2023 Dec 8:2023.12.06.570371. doi: 10.1101/2023.12.06.570371. bioRxiv. 2023. PMID: 38105987 Free PMC article. Preprint.