Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Authors

Xilma R Ortiz-González
Jesus A Tintos-Hernández
Kierstin Keller
Xueli Li
A Reghan Foley
Diana X Bharucha-Goebel, George Washington University
Sudha K Kessler
Sabrina W Yum
Peter B Crino
Miao He
Douglas C Wallace
Carsten G Bönnemann

Document Type

Journal Article

Publication Date

1-1-2018

Journal

Annals of neurology

Volume

83

Issue

1

Inclusive Pages

153-165

DOI

10.1002/ana.25130

Keywords

Adolescent; Autophagy; Biomarkers; Child; Exome; Fibroblasts; Heredodegenerative Disorders, Nervous System; Humans; Intellectual Disability; Leucine; Male; Mechanistic Target of Rapamycin Complex 1; Mutation; Oligosaccharides; Phagosomes; Phenotype; Protein-Serine-Threonine Kinases; Puerto Rico

APA Citation

Ortiz-González, X., Tintos-Hernández, J., Keller, K., Li, X., Foley, A., Bharucha-Goebel, D., Kessler, S., Yum, S., Crino, P., He, M., Wallace, D., & Bönnemann, C. (2018). Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.. Annals of neurology, 83 (1). http://dx.doi.org/10.1002/ana.25130

Peer Reviewed

1