| Title: |
Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA |
| Authors: |
Cortes, Constanza J; Miranda, Helen C; Frankowski, Harald; Batlevi, Yakup; Young, Jessica E; Le, Amy; Ivanov, Nishi; Sopher, Bryce L; Carromeu, Cassiano; Muotri, Alysson R; Garden, Gwenn A; La Spada, Albert R |
| Source: |
Nature Neuroscience, vol 17, iss 9 |
| Publisher Information: |
eScholarship, University of California |
| Publication Year: |
2014 |
| Collection: |
University of California: eScholarship |
| Subject Terms: |
32 Biomedical and Clinical Sciences (for-2020); 3202 Clinical Sciences (for-2020); Brain Disorders (rcdc); Genetics (rcdc); Neurodegenerative (rcdc); Neurosciences (rcdc); Rare Diseases (rcdc); 2.1 Biological and endogenous factors (hrcs-rac); 1.1 Normal biological development and functioning (hrcs-rac); Neurological (hrcs-hc); Animals (mesh); Autophagy (mesh); Basic Helix-Loop-Helix Leucine Zipper Transcription Factors (mesh); Cellular Reprogramming (mesh); Disease Models; Animal (mesh); Female (mesh); Fibroblasts (mesh); Humans (mesh); Induced Pluripotent Stem Cells (mesh); Male (mesh); Mice; Transgenic (mesh); Motor Neurons (mesh); Muscular Disorders; Atrophic (mesh); Peptides (mesh); Phagosomes (mesh); Receptors; Androgen (mesh) |
| Time: |
1180 - 1189 |
| Description: |
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disorder that results from a polyglutamine repeat expansion in the androgen receptor (polyQ-AR). In this study, the authors show that autophagy is dysregulated in SBMA mice and in neural precursors obtained from iPSCs derived from human patients and that this results from an impaired interaction between AR and the transcription factor TFEB. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
unknown |
| Relation: |
qt8v83h75n; https://escholarship.org/uc/item/8v83h75n; https://escholarship.org/content/qt8v83h75n/qt8v83h75n.pdf |
| DOI: |
10.1038/nn.3787 |
| Availability: |
https://escholarship.org/uc/item/8v83h75n; https://escholarship.org/content/qt8v83h75n/qt8v83h75n.pdf; https://doi.org/10.1038/nn.3787 |
| Rights: |
public |
| Accession Number: |
edsbas.22432EBC |
| Database: |
BASE |