The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish
DNM2 is a ubiquitously expressed GTPase that regulates multiple subcellular processes. Mutations in DNM2 are a common cause of centronuclear myopathy, a severe disorder characterized by altered skeletal muscle structure and function. The precise mechanisms underlying disease-associated DNM2 mutation...
Saved in:
Main Authors: | Elizabeth M. Gibbs (Author), Ann E. Davidson (Author), William R. Telfer (Author), Eva L. Feldman (Author), James J. Dowling (Author) |
---|---|
Format: | Book |
Published: |
The Company of Biologists,
2014-01-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
neb: a zebrafish model of nemaline myopathy due to nebulin mutation
by: William R. Telfer, et al.
Published: (2012) -
A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation
by: Amir Ghorbani Aghbolaghi, et al.
Published: (2017) -
A dog model for centronuclear myopathy carrying the most common DNM2 mutation
by: Johann Böhm, et al.
Published: (2022) -
Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes
by: Aymen Rabai, et al.
Published: (2019) -
DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy
by: Juliana de Carvalho Neves, et al.
Published: (2023)