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Proceedings of the National Academy of Sciences of the United States of America|May 4, 2022
<i>Acat1/Soat1</i> knockout extends the mutant <i>Npc1</i> mouse lifespan and ameliorates functional deficiencies in multiple organelles of mutant cellsMaximillian A Rogers, Catherine C Y Chang, Robert A Maue, et al.Clinical Endocrinology|December 14, 2005
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinomaWilliam B Kinlaw, Sarah M Scott, Robert A Maue, et al.The Journal of Biological Chemistry|December 30, 2016
Normalization of Hepatic Homeostasis in the <i>Npc1</i> Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor VorinostatAndrew B Munkacsi, Natalie Hammond, Remy T Schneider, et al.Iscience|June 8, 2026
Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severityAndrew B Munkacsi, Gabriella E Conway, Keri Multerer, et al.Human Molecular Genetics|November 4, 2011
A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutationsRobert A Maue, Robert W Burgess, Bing Wang, et al.Pageof 2