• 5622 Citations
  • 44 h-Index
1976 …2022
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Grants 1977 2022

Developmental Disabilities
Cell Engineering
Intellectual Disability
Research
leadership

Histone Deacetylase Inhibitors for Treatment of Niemann-Pick C1 Disease

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

National Institutes of Health

9/15/157/31/20

Project: Research project

Niemann-Pick Diseases
Histone Deacetylase Inhibitors
Mutation
Mutant Proteins
Therapeutics
Lysosomes
Autophagy
Neuroaxonal Dystrophies
Proteins
Dendrites
Seizures
Epilepsy
Research
Mental Retardation, X-Linked, Syndromic, Christianson Type
Endosomes
Research
Research Personnel
Students
Investigational Therapies
Health

Publications 1976 2018

  • 5622 Citations
  • 44 h-Index
  • 116 Article
  • 2 Chapter
  • 1 Editorial
  • 1 Review article
4 Citations (Scopus)

Current concepts in the neuropathogenesis of mucolipidosis type IV

Boudewyn, L. C. & Walkley, S. U., Jan 1 2018, (Accepted/In press) In : Journal of Neurochemistry.

Research output: Contribution to journalArticle

Mucolipidoses
Brain
Transient Receptor Potential Channels
Haploinsufficiency
Retinal Degeneration
Intellectual Disability
Nervous System
Spinal Cord
G(M2) Ganglioside
Phenotype
12 Citations (Scopus)

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
Ceramides
Central Nervous System
Microglia
11 Citations (Scopus)

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
Cathepsin D
Brain
Lysosomes
60 Citations (Scopus)

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: A non-randomised, open-label, phase 1-2 trial

Ory, D. S., Ottinger, E. A., Farhat, N. Y., King, K. A., Jiang, X., Weissfeld, L., Berry-Kravis, E., Davidson, C. D., Bianconi, S., Keener, L. A., Rao, R., Soldatos, A., Sidhu, R., Walters, K. A., Xu, X., Thurm, A., Solomon, B., Pavan, W. J., Machielse, B. N., Kao, M. & 7 othersSilber, S. A., McKew, J. C., Brewer, C. C., Vite, C. H., Walkley, S. U., Austin, C. P. & Porter, F. D., 2017, (Accepted/In press) In : The Lancet.

Research output: Contribution to journalArticle

Type A Niemann-Pick Disease
Type C Niemann-Pick Disease
Cyclodextrins
Disease Progression
National Institutes of Health (U.S.)