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Grants 1977 2021

Support for the Rose F. Kennedy IDDRC

Morrow, B. E., Schwartz, G. J., Greally, J. M., Dobrenis, K., Walkley, S. U. & Molholm, S.

National Institutes of Health

9/22/165/31/21

Project: Research projectSpecialized Center--Cooperative Agreements

Intellectual Disability
Developmental Disabilities
DiGeorge Syndrome
Cell Engineering
Genome

Histone Deacetylase Inhibitors for Treatment of Niemann-Pick C1 Disease

Walkley, S. U., Ory, D., Maxfield, F. R. & Maxfield, F. R.

National Institutes of Health

9/15/157/31/20

Project: Research projectResearch Project

Niemann-Pick Diseases
Histone Deacetylase Inhibitors
Mutation
Mutant Proteins
Cholesterol
Seizures
Epilepsy
Angelman Syndrome
Endosomes
Proteins
Students
Health
Brain
Proteins
Health Resorts
Chronic Disease
Students
Brain
Proteins
Health Resorts

Publications 1976 2017

  • 4798 Citations
  • 39 h-Index
  • 116 Article
  • 2 Chapter
  • 1 Review article

Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities

Sikora, J., Dworski, S., Jones, E. E., Kamani, M. A., Micsenyi, M. C., Sawada, T., Le Faouder, P., Bertrand-Michel, J., Dupuy, A., Dunn, C. K., Xuan, I. C. Y., Casas, J., Fabrias, G., Hampson, D. R., Levade, T., Drake, R. R., Medin, J. A. & Walkley, S. U. Apr 1 2017 In : American Journal of Pathology. 187, 4, p. 864-883 20 p.

Research output: Contribution to journalArticle

Farber Lipogranulomatosis
Nervous System Malformations
Central Nervous System
Ceramides
Microglia
2 Citations

Cyclodextrin has conflicting actions on autophagy flux in vivo in brains of normal and Alzheimer model mice

Yang, D. S., Stavrides, P., Kumar, A., Jiang, Y., Mohan, P. S., Ohno, M., Dobrenis, K., Davidson, C. D., Saito, M., Pawlik, M., Huo, C., Walkley, S. U. & Nixon, R. A. Mar 1 2017 In : Human Molecular Genetics. 26, 5, p. 843-859 17 p., ddx001

Research output: Contribution to journalArticle

Autophagy
Cyclodextrins
Brain
Cathepsin D
Lysosomes

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV

Boudewyn, L. C., Sikora, J., Kuchar, L., Ledvinova, J., Grishchuk, Y., Wang, S. L., Dobrenis, K. & Walkley, S. U. Sep 1 2017 In : Neurobiology of Disease. 105, p. 257-270 14 p.

Research output: Contribution to journalArticle

Mucolipidoses
Purkinje Cells
Glycosphingolipids
Pathology
Glucosylceramides

Niemann-Pick disease, type C and Roscoe Brady

Patterson, M. C. & Walkley, S. U. Jan 1 2017 In : Molecular Genetics and Metabolism. 120, 1-2, p. 34-37 4 p.

Research output: Contribution to journalReview article

Supravalvular Aortic Stenosis
Niemann-Pick Diseases
Sphingomyelin Phosphodiesterase
Explosions
Genetic Association Studies

Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease

Davidson, C. D., Fishman, Y. I., Puskás, I., Szemán, J., Sohajda, T., Mccauliff, L. A., Sikora, J., Storch, J., Vanier, M. T., Szente, L., Walkley, S. U. & Dobrenis, K. May 1 2016 In : Annals of Clinical and Translational Neurology. 3, 5, p. 366-380 15 p.

Research output: Contribution to journalArticle

Niemann-Pick Diseases
Cyclodextrins
Cholesterol
Lipids
Gangliosides