Work

Focusing on foci: Expansion Microscopy for high-resolution characterization of repeat RNA-protein aggregates in DM

Year: 2026

Type: article

Abstract: A key feature of myotonic dystrophy type 1 (DM1) and 2 (DM2), is the accumulation of RNA-protein aggregates, primarly in cell nuclei. However, unravelling their structure, dynamics, and function remains a challenge. To resolve RNA foci ultrastructure, we introduced Expansion Microscopy (ExM) as an innovative approach to DM research. The combination of ExM with other techniques, such as single-molecule inexpensive FISH (smiFISH), provides another approach to high-resolution visualization of MBNL-C(C)UG repeat transcript complexes in cell types relevant to DM pathology.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.20717533

Authors: Gaspari, Sofia, Willemse, Marieke, Hoekman, Thomas D., van Bokhoven, Hans, Wansink, Derick G.

Institutions: Radboud University Nijmegen, Radboud University Medical Center

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

Open Access status: green

OpenAlex ID: W7164924240

FWCI:

Cites:

Cited by:

Related to: