Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2020 Jul 21;10:12057. doi: 10.1038/s41598-020-68970-8

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Schematic representation of the four pathways that the tbl mutation might dysregulate allowing to an increase of the autophagy of synaptic vesicles and the alteration on the number of healthy releasable synaptic vesicles. (A) Mutation site is located at RLD1 domain which dysregulating small GTPS might in turn dysregulate synaptic vesicles homeostasis. (B) RLD2 domain binds clathrin; therefore, alterations of RLD2 alone or by protein overproduction could alter endocytosis during synaptic vesicle recycling. (C) CLT-HERC1 interaction is impaired by mutated RLD1 and in turn could interfere the CME pathway. (D) mTORC1 activity decreased in tbl mutation and could thus explain the increase of autophagosomes; otherwise, mTORC1 participates in autophagy of presynaptic proteins whose dysregulation might contribute to the decrease in size of the active zone (AZ).