REFERENCES

1. Gurda BL, Bradbury AM, Vite CH. Canine and feline models of human genetic diseases and their contributions to advancing clinical therapies. Yale J Biol Med. 2017;90:417-31.

2. Bradbury AM, Gurda BL, Casal ML, Ponder KP, Vite CH, Haskins ME. A review of gene therapy in canine and feline models of lysosomal storage disorders. Hum Gene Ther Clin Dev. 2015;26:27-37.

3. Gurda BL, Vite CH. Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases. Hum Mol Genet. 2019;28:R119-31.

4. Platt FM, D’azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers. 2018;4:27.

5. Ludlaim AM, Waddington SN, Mckay TR. Unifying biology of neurodegeneration in lysosomal storage diseases. J Inherit Metab Dis. 2025;48:e12833.

6. Meikle PJ. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249.

7. Darios F, Stevanin G. Impairment of lysosome function and autophagy in rare neurodegenerative diseases. J Mol Biol. 2020;432:2714-34.

8. Udayar V, Chen Y, Sidransky E, Jagasia R. Lysosomal dysfunction in neurodegeneration: emerging concepts and methods. Trends Neurosci. 2022;45:184-99.

9. Pentchev PG, Comly ME, Kruth HS, et al. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc. Natl. Acad. Sci. U.S.A. 1985;82:8247-51.

10. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.

11. Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. The online metabolic and molecular bases of inherited disease. McGraw-Hill Education; 2019. Available from: https://ommbid.mhmedical.com/book.aspx?bookID=2709 [Last accessed on 12 Jun 2026].

12. Fraldi A, Annunziata F, Lombardi A, et al. Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. EMBO J. 2010;29:3607-20.

13. Walkley S. Pyramidal neurons with ectopic dendrites in storage diseases exhibit increased GM2 ganglioside immunoreactivity. Neuroscience. 1995;68:1027-35.

14. Vanier M, Millat G. Niemann-Pick disease type C. Clin Genet. 2003;64:269-81.

15. Zervas M, Somers KL, Thrall MA, Walkley SU. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol. 2001;11:1283-7.

16. Walkley SU, Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta. 2004;1685:48-62.

17. Peake KB, Vance JE. Defective cholesterol trafficking in Niemann‐Pick C‐deficient cells. FEBS Lett. 2010;584:2731-9.

18. Vance JE, Peake KB. Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin. Curr Opin Lipidol. 2011;22:204-9.

19. Wojtanik KM, Liscum L. The transport of low density lipoprotein-derived cholesterol to the plasma membrane is defective in NPC1 cells. J Biol Chem. 2003;278:14850-6.

20. Liscum L, Ruggiero RM, Faust JR. The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts. J Cell Biol. 1989;108:1625-36.

21. Braak H, Braak E, Goebel HH. Isocortical pathology in type C Niemann-Pick disease: a combined Golgi-Pigmentoarchitectonic study. J Neuropathol Exp Neurol. 1983;42:671-87.

22. Elleder M, Jirásek A, Šmíd F, Ledvinová J, Besley GTN. Niemann-Pick disease type C: study on the nature of the cerebral storage process. Acta Neuropathol. 1985;66:325-36.

23. Lowenthal AC, Cummings JF, Wenger DA, Thrall MA, Wood PA, De Lahunta A. Feline sphingolipidosis resembling Niemann-Pick disease type C. Acta Neuropathol. 1990;81:189-97.

24. Muñana KR, Luttgen PJ, Thrall MA, Mitchell TW, Wenger DA. Neurological Manifestations of Niemann-Pick Disease Type C in Cats. J Vet Intern Med. 1994;8:117-21.

25. Brown DE, Thrall MA, Walkley SU, et al. Feline Niemann-Pick disease type C. Am J Pathol. 1994;144:1412-5.

26. March PA, Thrall MA, Brown DE, Mitchell TW, Lowenthal AC, Walkley SU. GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. Acta Neuropathol. 1997;94:164-72.

27. Zervas M, Dobrenis K, Walkley SU. Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J Neuropathol Exp Neurol. 2001;60:49-64.

28. Somers KL, Brown DE, Fulton R, et al. Effects of dietary cholesterol restriction in a feline model of Niemann-Pick type C disease. J Inherit Metab Dis. 2001;24:427-36.

29. Somers K. Mutation analysis of feline Niemann-Pick C1 disease. Mol Genet Metab. 2003;79:99-103.

30. Vite CH, Ding W, Bryan C, et al. Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick Type C disease. Pediatr Res. 2008;64:544-9.

31. Bagel JH, Sikora TU, Prociuk M, et al. 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. 2013;72:256-62.

32. Roszell BR, Tao J, Yu KJ, et al. Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease. PLoS ONE. 2013;8:e67084.

33. Gurda BL, Bagel JH, Fisher SJ, et al. 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;77:229-45.

34. Porter FD, Scherrer DE, Lanier MH, et al. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med. 2010;2:56ra81.

35. Tortelli B, Fujiwara H, Bagel JH, et al. Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1). Hum Mol Genet. 2014;23:6022-33.

36. Fan M, Sidhu R, Fujiwara H, et al. Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling. J Lipid Res. 2013;54:2800-14.

37. Bradbury A, Bagel J, Sampson M, et al. Cerebrospinal fluid calbindin d concentration as a biomarker of cerebellar disease progression in Niemann-Pick type C1 disease. J Pharmacol Exp Ther. 2016;358:254-61.

38. Sidhu R, Kell P, Dietzen DJ, et al. Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-Pick disease type C1. Mol Genet Metab. 2020;131:405-17.

39. Mishra S, Kell P, Scherrer D, et al. Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1. J Lipid Res. 2024;65:100600.

40. Stein VM, Crooks A, Ding W, et al. Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C. J Neuropathol Exp Neurol. 2012;71:434-48.

41. Ward S, O’donnell P, Fernandez S, Vite CH. 2-hydroxypropyl-β-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease. Pediatr Res. 2010;68:52-6.

42. Vite CH, Bagel JH, Swain GP, et al. Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease. Sci Transl Med. 2015;7.

43. Kao ML, Stellar S, Solon E, et al. Pharmacokinetics and distribution of 2‐hydroxypropyl‐β‐cyclodextrin following a single intrathecal dose to cats. J Inherit Metab Dis. 2019;43:618-34.

44. Kurokawa Y, Osaka H, Kouga T, et al. Gene therapy in a mouse model of Niemann-Pick disease type C1. Hum Gene Ther. 2021;32:589-98.

45. Davidson CD, Gibson AL, Gu T, et al. Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice. Life Sci. Alliance. 2021;4:e202101040.

46. Hughes MP, Nelvagal HR, Coombe-tennant O, et al. A novel small NPC1 promoter enhances AAV-mediated gene therapy in mouse models of Niemann-Pick Type C1 disease. Cells. 2023;12:1619.

47. Hughes MP, Smith DA, Morris L, et al. AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease. Hum Mol Genet. 2018;27:3079-98.

48. Ory DS, Ottinger EA, Farhat NY, et al. Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. The Lancet. 2017;390:1758-68.

49. Ottinger EA, Kao ML, Carrillo-Carrasco N, et al. Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease. Curr Top Med Chem. 2014;14:330-9.

50. Mauler D, Gandolfi B, Reinero C, et al. ; and 99 Lives Consortium. Precision medicine in cats: novel Niemann-Pick type C1 diagnosed by whole-genome sequencing. J Vet Intern Med. 2017;31:539-44.

51. Gutić M, Milosavljević MN, Janković SM. Cost-effectiveness of miglustat versus symptomatic therapy of Niemann-Pick disease type C. Int J Clin Pharm. 2022;44:1442-53.

52. Yoon SY, Hunter JE, Chawla S, et al. Global CNS correction in a large brain model of human alpha-mannosidosis by intravascular gene therapy. Brain. 2020;143:2058-72.

53. Yoon SY, Gay-antaki C, Ponde DE, Poptani H, Vite CH, Wolfe JH. Quantitative, noninvasive, in vivo longitudinal monitoring of gene expression in the brain by co-AAV transduction with a PET reporter gene. Mol Ther Methods Clin Dev. 2014;1:14016.

54. Yoon SY, Bagel JH, O’donnell PA, Vite CH, Wolfe JH. Clinical improvement of alpha-mannosidosis cat following a single cisterna magna infusion of AAV1. Mol Ther. 2016;24:26-33.

55. Hunter JE, Vite CH, Molony CM, O’donnell PA, Wolfe JH. Intracisternal vs intraventricular injection of AAV1 result in comparable, widespread transduction of the dog brain. Gene Ther. 2024;32:184-8.

56. Hunter JE, Molony CM, Panek WK, et al. Effect of disease progression on CSF-directed AAV gene therapy in a large brain animal model of lysosomal storage disease. Mol Ther Methods Clin Dev. 2025;33:101552.

57. Hunter JE, Molony CM, Bagel JH, et al. Widespread correction of brain pathology in feline alpha-mannosidosis by dose escalation of intracisternal AAV vector injection. Mol Ther Methods Clin Dev. 2024;32:101272.

58. Vite CH, Passini MA, Haskins ME, Wolfe JH. Adeno-associated virus vector-mediated transduction in the cat brain. Gene Ther. 2003;10:1874-81.

59. Bradbury AM, Bagel JH, Nguyen D, et al. Krabbe disease successfully treated via monotherapy of intrathecal gene therapy. J Clin Investig. 2020;130:4906-20.

60. Muto Y, Suzuki M, Takei H, et al. Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites. Mol Genet Metab. 2023;140:107703.

61. Costa Verdera H, Kuranda K, Mingozzi F. AAV vector immunogenicity in humans: a long journey to successful gene transfer. Mol Ther. 2020;28:723-46.

62. Fratantoni JC, Hall CW, Neufeld EF. Hurler and hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science. 1968;162:570-2.

63. De Marchi F, Munitic I, Vidatic L, et al. Overlapping neuroimmune mechanisms and therapeutic targets in neurodegenerative disorders. Biomedicines. 2023;11:2793.

64. Chu T, Tu X, Yang K, Wu J, Repa JJ, Yan N. Tonic prime-boost of STING signalling mediates Niemann-Pick disease type C. Nature. 2021;596:570-5.

65. Azaria RD, Correia AB, Schache KJ, et al. Mutant induced neurons and humanized mice enable identification of Niemann-Pick type C1 proteostatic therapies. JCI Insight. 2024;9:e179525.

66. Murray CE, Betancourt-trompa DS, Martinez MS, et al. Role of mTORC1 signaling in postnatal microglia activation preceding neurodegeneration in a mouse model for Niemann-Pick disease Type C. PLoS ONE. 2025;20:e0330437.

67. Gascón-bayarri J, Rico I, Sánchez-castañeda C, et al. Efficacy and safety of efavirenz in Niemann-Pick disease type C. Neurotherapeutics. 2025;22:e00706.

68. Shammas H, Kloster Fog C, Klein P, et al. Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-Pick type C disease. Mol Genet Metab. 2025;145:109103.

69. Patterson MC, Ramaswami U, Donald A, et al. Disease-modifying, neuroprotective effect of N-Acetyl-l-leucine in adult and pediatric patients with Niemann-Pick disease type C. Neurology. 2025;105:e213589.

70. Stee K, Van Poucke M, Lowrie M, et al. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med. 2023;37:1306-22.

71. Casazza K, Cologna SM, Berry‐kravis E, Jarnes J, Porter FD. Biomarker Validation inNPC1: foundations for clinical trials and regulatory alignment. J Inherit Metab Dis. 2025;48:e70075.

72. Hocquemiller M, Giersch L, Mei X, et al. AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates. Mol Ther Methods Clin Dev. 2022;27:281-92.

Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
Follow Us

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/