• K.A. Becker, C.K. Pathmasiri, E.S. Phillippi, K. Casazza, D.W. Todd, D.A Weinstein, K.L. Ode, A.R. Calhoun, S.M. Cologna, M.L. Schultz*. Systematic genetic, biochemical, and lipidomic characterization of GSD III fibroblast models reveals mis-annotation and defines a conserved disease lipid signature. Molecular Genetics and Metabolism. 2026 Aug 26; 149(1-2), https://doi.org/10.1016/j.ymgme.2026.110249
• ER Koufer, A Townsend, Y Na, AB Correia, NK Latham, KC Pathmasiri, O Ilnystka, J Storch, KA Sullivan, T Halseth, TJ Kunkel, ES Phillippi, ML Lieberman, SM Colgna, AP Lieberman, DA Jacobson, AS Schwendeman, ML Schultz* Codon-Optimized Npc1 mRNA corrects Niemann-Pick type C1 disease phenotypes in vitro and in vivo. Moleculat Therapy Nucleic Acids. 2026 Sept 8; 37(3);103022. https://doi.org/10.1016/j.omtn.2026.103022 [Cover Art by ER Koufer]
• GT Liddiard, GF Buchanan, ML Schultz, J Glykys. Recurrent neonatal seizures increase tonic inhibition and respond to enhancers of δ-containing GABAA receptors. JCI Insight. 2025 Sept 16;  https://doi.org/10.1172/jci.insight.196152. PMID: 40956609
• Schultz ML*, Schache KJ, Azaria RD, Kuiper EQ, Erwood S, Ivakine EA, Farhat NY, Porter FD, Pathmasiri KC, Cologna SM, Uhler MD, Lieberman AP*. Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease. [Highlighted by JCI insight] JCI Insight. 2022 Dec 8;7(23):e160308. doi: 10.1172/jci.insight.160308. PMID: 36301667.
• Halseth TA, Correia AB, Schultz ML, Fawaz MV, Kuiper EQ, Kumaran P, Dorsey KH, Schuchman EH, Lieberman AP, Schwendeman A. Apolipoprotein-mimetic nanodiscs reduce lipid accumulation and improve liver function in acid sphingomyelinase deficiency. Nanomedicine. 2023 Aug 24;102705. doi: 10.1016/j.nano.2023.102705. PMID: 37633404.
• Javanshad R, Nguyen T, Azaria R, Li W, Edmison D, Gong L, Gowrishankar S, Lieberman A, Schultz M, Cologna S. The endogenous protein-protein interaction network of the NPC Cholesterol Transporter 1 in the cerebral cortex. Journal of Proteome Research. 2024. Apr 30. doi:10.1021/acs.jproteome.3c00788. PMID: 38686625.
• Azaria RD, Correia AB, Schache KJ, Zapata M, Pathmasiri KC, Mohanty V, Nannapaneni D, Ashfeld BL, Helquist P, Wiest O, Ohgane K, Li Q, Fredenburg RA, Blagg BSJ,4, Cologna SM, Schultz ML*, Lieberman AP*. Mutant induced neurons and humanized mice enable identification of Niemann-Pick C1 proteostatic therapies. JCI Insight. 2024 Aug 29. doi: 10.1172/jci.insight.179525. PMID: 39207850.
• Halseth TA, Correia AB, Schultz ML, Fawaz MV, Kuiper EQ, Kumaran P, Dorsey KH, Schuchman EH, Lieberman AP, Schwendeman A. Apolipoprotein-mimetic nanodiscs reduce lipid accumulation and improve liver function in acid sphingomyelinase deficiency. Nanomedicine. 2023 Sep;53:102705. doi: 10.1016/j.nano.2023.102705. Epub 2023 Aug 24. PMID: 37633404; PMCID: PMC10530155.
• Schultz ML, Schache KJ, Azaria RD, Kuiper EQ, Erwood S, Ivakine EA, Farhat NY, Porter FD, Pathmasiri KC, Cologna SM, Uhler MD, Lieberman AP. Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease. JCI Insight. 2022 Dec 8;7(23):e160308. doi: 10.1172/jci.insight.160308. PMID: 36301667; PMCID: PMC9746915.
• Deng L, Mojica-Perez SP, Azaria RD, Schultz M, Parent JM, Niu W. Loss of POGZ alters neural differentiation of human embryonic stem cells. Mol Cell Neurosci. 2022 May;120:103727. doi: 10.1016/j.mcn.2022.103727. Epub 2022 Mar 31. PMID: 35367590; PMCID: PMC9549529.
• 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. Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage. J Biol Chem. 2021 Jul;297(1):100813. doi: 10.1016/j.jbc.2021.100813. Epub 2021 May 21. PMID: 34023384; PMCID: PMC8294588.
• Liu EA, Schultz ML, Mochida C, Chung C, Paulson HL, Lieberman AP. Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain. JCI Insight. 2020 Oct 15;5(20):e136676. doi: 10.1172/jci.insight.136676. PMID: 32931479; PMCID: PMC7605537.
• 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. Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases. BMC Med. 2019 Nov 11;17(1):200. doi: 10.1186/s12916-019-1423-5. PMID: 31711490; PMCID: PMC6849328.
• Schultz ML, Krus KL, Kaushik S, Dang D, Chopra R, Qi L, Shakkottai VG, Cuervo AM, Lieberman AP. Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD. Nat Commun. 2018 Sep 10;9(1):3671. doi: 10.1038/s41467-018-06115-2. PMID: 30202070; PMCID: PMC6131187.
• Schultz ML, Tecedor L, Lysenko E, Ramachandran S, Stein CS, Davidson BL. Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo. Neurobiol Dis. 2018 Jul;115:182-193. doi: 10.1016/j.nbd.2018.04.010. Epub 2018 Apr 13. PMID: 29660499; PMCID: PMC5969532.
• Gurda BL, Bagel JH, Fisher SJ, Schultz ML, Lieberman AP, Hand P, Vite CH, Swain GP. LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss. J Neuropathol Exp Neurol. 2018 Mar 1;77(3):229-245. doi: 10.1093/jnen/nlx119. PMID: 29346563; PMCID: PMC5989620.
• Schultz ML, Krus KL, Lieberman AP. Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease. Brain Res. 2016 Oct 15;1649(Pt B):181-188. doi: 10.1016/j.brainres.2016.03.035. Epub 2016 Mar 26. PMID: 27026653; PMCID: PMC5542880.
• Schultz ML, Tecedor L, Stein CS, Stamnes MA, Davidson BL. CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events. PLoS One. 2014 May 2;9(5):e96647. doi: 10.1371/journal.pone.0096647. PMID: 24792215; PMCID: PMC4008583.
• Tecedor L, Stein CS, Schultz ML, Farwanah H, Sandhoff K, Davidson BL. CLN3 loss disturbs membrane microdomain properties and protein transport in brain endothelial cells. J Neurosci. 2013 Nov 13;33(46):18065-79. doi: 10.1523/JNEUROSCI.0498-13.2013. PMID: 24227717; PMCID: PMC3828460.
• Xie P, Poovassery J, Stunz LL, Smith SM, Schultz ML, Carlin LE, Bishop GA. Enhanced Toll-like receptor (TLR) responses of TNFR-associated factor 3 (TRAF3)-deficient B lymphocytes. J Leukoc Biol. 2011 Dec;90(6):1149-57. doi: 10.1189/jlb.0111044. Epub 2011 Oct 4. PMID: 21971520; PMCID: PMC3236554.
• Schultz ML, Tecedor L, Chang M, Davidson BL. Clarifying lysosomal storage diseases. Trends Neurosci. 2011 Aug;34(8):401-10. doi: 10.1016/j.tins.2011.05.006. Epub 2011 Jun 30. PMID: 21723623; PMCID: PMC3153126.

* Indicates co-corresponding author.