Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle

A Morin, A Stantzou, ON Petrova… - Proceedings of the …, 2023 - National Acad Sciences
Dystrophin is essential for muscle health: its sarcolemmal absence causes the fatal, X-linked
condition, Duchenne muscular dystrophy (DMD). However, its normal, spatial organization …

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

A von Renesse, MV Petkova, S Lützkendorf… - Journal of medical …, 2014 - jmg.bmj.com
Background Congenital muscular dystrophies (CMD) with hypoglycosylation of α-
dystroglycan are clinically and genetically heterogeneous disorders that are often …

[HTML][HTML] Characterization of a Dmd EGFP reporter mouse as a tool to investigate dystrophin expression

MV Petkova, S Morales-Gonzales, K Relizani, E Gill… - Skeletal muscle, 2016 - Springer
Background Dystrophin is a rod-shaped cytoplasmic protein that provides sarcolemmal
stability as a structural link between the cytoskeleton and the extracellular matrix via the …

[HTML][HTML] Ectopic expression of transcription factor BATF3 induces B-cell lymphomas in a murine B-cell transplantation model

C Weiser, MV Petkova, B Rengstl, C Döring… - Oncotarget, 2018 - ncbi.nlm.nih.gov
The mechanisms involved in malignant transformation of mature B and T lymphocytes are
still poorly understood. In a previous study, we compared gene expression profiles of the …

Live‐imaging of revertant and therapeutically restored dystrophin in the DmdEGFP‐mdx mouse model for Duchenne muscular dystrophy

MV Petkova, A Stantzou, A Morin… - Neuropathology and …, 2020 - Wiley Online Library
Background Dmdmdx, harbouring the c. 2983C> T nonsense mutation in Dmd exon 23, is a
mouse model for Duchenne muscular dystrophy (DMD), frequently used to test therapies …