Maue, Robert A <br/><br/>
A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.  [electronic resource] 

 -  Human molecular genetics  Feb 2012 
 - 730-50 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddr505  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Age of Onset<br/>Alleles<br/>Animals<br/>Astrocytes--pathology<br/>Brain--metabolism<br/>Carrier Proteins--chemistry<br/>Cholesterol--metabolism<br/>DNA Mutational Analysis<br/>Disease Models, Animal<br/>Disease Progression<br/>Endoplasmic Reticulum Stress<br/>Gangliosides--metabolism<br/>Homozygote<br/>Humans<br/>Intracellular Signaling Peptides and Proteins<br/>Lipid Metabolism<br/>Lung--cytology<br/>Macrophages--metabolism<br/>Membrane Glycoproteins--chemistry<br/>Mice<br/>Microglia--pathology<br/>Myelin Sheath<br/>Niemann-Pick C1 Protein<br/>Niemann-Pick Disease, Type C--genetics<br/>Phenotype<br/>Point Mutation--genetics<br/>Proteostasis Deficiencies<br/>Purkinje Cells--pathology<br/>RNA, Messenger--analysis<br/>Reflex, Startle<br/>Survival Rate