Further Reading

Publications

Refereed Papers

• Recent references from PubMed and VetMedResource.
• Pallottini V, Pfrieger  FW (2020) Understanding and treating Niemann-Pick type C disease: Models matter. Int J Mol Sci 21, E8979 PubMed. 
• Switonski M (2020) Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet 61(2),179-186 PubMed.
• Takaichi Y, Chambers J K, Kok M K, Uchiyama H, Haritani M, Hasegawa D, Nakayama H, Uchida K (2020) Feline Niemann-Pick Disease With a Novel Mutation of  SMPD1 Gene. Vet Pathol 300985820921810 PubMed DOI: 10.1177/0300985820921810.
• Mauler D A, Gandolfi B, Reinero C R, O'Brien D P, Spooner J L, Lyons L A (2017) Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing. JVIM 31, 539-544 PubMed. 
• Bradbury A, Bagel J, Sampson M, Farhat N, Ding W, Swain G, Prociuk M, O'Donnell P, Drobatz K, Gurda B, Wassif C, Remaley A, Porter F, Vite C (2016) Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease. J Pharmacol Exp Ther 358, 254-261 PubMed. 
• Bradbury A M, Gurda B L, Casal M L, Ponder K P, Vite C H, Haskins M E (2015) A review of gene therapy in canine and feline models of lysosomal storage disorders. Hum Gene Ther Clin Dev 26(1), 27-37 PubMed.
• Vite C H, Bagel J H, Swain G P, Prociuk M, Sikora T U, Stein V M, O'Donnell P, Ruane T, Ward S, Crooks A, Li S, Mauldin E, Stellar S, De Meulder M, Kao M L, Ory D S, Davidson C, Vanier M T, Walkley S U (2015) Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease. Sci Transl Med 7, 276ra26 PubMed. 
• Zampieri S, Bianchi E, Cantile C, Saleri R, Bembi B, Dardis A (2014) Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease. PLoS One 9, e112503 PubMed. 
• Bagel J H, Sikora T U, Prociuk M, Pesayco J P, Mizisin A P, Shelton G D, Vite C H (2013) Electrodiagnostic testing and histopathologic changes confirm peripheral nervous system myelin abnormalities in the feline model of niemann-pick disease type C. J Neuropathol Exp Neurol 72, 256-262 PubMed. 
• Roszell B R, Tao J Q, Yu K J, Gao L, Huang S, Ning Y, Feinstein S I, Vite C H, Bates S R (2013) Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease. PLoS One 8, e67084 PubMed. 
• Stein V M, Crooks A, Ding W, Prociuk M, O'Donnell P, Bryan C, Sikora T, Dingemanse J, Vanier M T, Walkley S U, Vite C H (2012) Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C. J Neuropathol Exp Neurol 71, 434-448 PubMed. 
• Ward S, O'Donnell P, Fernandez S, Vite C H (2010) 2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease. Pediatr Res 68, 52-56 PubMed.  
• Vite C H, Ding W, Bryan C, O'Donnell P, Cullen K, Aleman D, Haskins M E, Van Winkle T (2008) Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease. Pediatr Res 64, 544-549 PubMed.  
• Somers K L, Royals M A, Carstea E D, Rafi M A, Wenger D A, Thrall M A (2003) Mutation analysis of feline Niemann-Pick C1 disease. Mol Genet Metab 79, 99-103 PubMed.
• Garver W S, Somers K, Krishnan K, Mitchell T, Heidenreich R A, Thrall M A (2002) The Niemann-Pick C1 protein in feline fibroblasts. Mol Genet Metab 76, 31-36 PubMed.  
• Somers K L, Brown D E, Fulton R, Schultheiss P C, Hamar D, Smith M O, Allison R, Connally H E, Just C, Mitchell TW, Wenger D A, Thrall M A (2001) Effects of dietary cholesterol restriction in a feline model of Niemann-Pick type C disease. J Inherit Metabol Dis 24, 427-436 PubMed.  
• Somers K L, Wenger D A, Royals M A, Carstea E D, Connally H E, Kelly T, Kimball R, Thrall M A (1999) Complementation studies in human and feline Niemann-Pick type C disease. Mol Genet Metab 66, 117-21 PubMed.   
• March P A, Thrall M A, Brown D E, Mitchell T W, Lowenthal A C, Walkley S U (1997) Gabaergic neuroaxonal dystrophy and other cytopathological alterations in feline niemann-pick disease type c. Acta Neuropathologica 94, 164-172 PubMed.  
• Brown D E, Thrall M A, Walkley S U, Wurzelmann S, Wenger D A, Allison R W, Just C A (1996) Metabolic abnormalities in feline Niemann-Pick type C heterozygotes. J Inherit Metabol Dis 19, 319-330 PubMed.  
• Brown D E, Thrall M A, Walkley S U, Wenger D A, Mitchell T W, Smith M O, Royals K L, March P A, Allison R W (1994) Feline Niemann-Pick disease type C. Am J Pathol 144, 1412-1415 PubMed. 
• Munana K R, Luttgen P J, Thrall M A, Mitchell T W, Wenger D A (1994) Neurological Manifestations of Niemann-Pick Disease Type-C in Cats. JVIM 8, 117-121 PubMed. 
• Kuwamura M, Awakura T, Shimada A, Umemura T, Kagota K, Kawamura N, Naiki M (1993) Type C Niemann-Pick disease in a boxer dog. Acta Neuropathol 85, 345-348.
• Lowenthal A C, Cummings J F, Wenger D A, Thrall M A, Wood P A, Delahunta A (1990) Feline Sphingolipidosis Resembling Niemann-Pick Disease Type-C. Acta Neuropathologica 81, 189-197, PubMed.  
• Cuddon P A, Higgins R J, Duncan I D, Miller  SP F, Parent J M, Moser A B (1989) Polyneuropathy in Feline Niemann-Pick Disease. Brain 112, 1429-1443 PubMed.  
• Baker H J, Wood P A, Wenger D A, Walkley S U, Inui K, Kudoh T, Rattazzi M C, Riddle B L(1987) Sphingomyelin lipidosis in a cat. Vet Pathol 24, 386-391 PubMed.  
• Castagnaro M, Alroy J, Ucci A A, Glew R H (1984) Lectin histochemistry and ultrastructure of feline kidneys from six different storage diseases. Virchows Arch B Cell Pathol Incl Mol Pathol 54, 16-26 PubMed.   
• Walkley S U, Baker H J (1984) Sphingomyelin lipidosis in a cat: Golgi studies. Acta Neuropathol 65, 138-144 PubMed.  
• Snyder S P, Kingston R S, Wenger D A (1982) Niemann-Pick disease. Sphingomyelinosis of Siamese cats. Am J Pathol 108, 252-254 PubMed. 
• Wenger D A, Sattler M, Kudoh T, Synder S P, Kingston R S (1980) Niemann-Pick disease: a genetic model in Siamese cats. Science 208, 1471-1473 PubMed. 
• Bundza A, Lowden J A, Charlton K M (1979) Niemann-Pick disease in a Poodle dog. Vet Pathol 16, 530-538 PubMed. 
• Percy D H, Jortner B S (1971) Feline lipidosis. Light and electron microscope studies. Archives of Pathology 92, 136-144. 
• Crisp C E, Ringler D H, Abrams G D, Radin N S, Brenkert A (1970) Lipid storage disease in a Siamese cat. JAVMA 156, 616-622 PubMed. 
• Kurihara Y, Mochizuki H (1970) [Electron microscopic studies on feline GI-gangliosidosis with similarities to Tay-Sachs disease]. Shinkei Kenkyu No Shimpo 14, 347-57 PubMed.