Tissue‐Selective Effects of <i>PLEC</i> Isoform Deficiency: Insights From A Muscle Only Phenotype
These findings suggest that tissue-specific regulation of PLEC isoforms may explain the absence of skin involvement in plectin 1f deficiency. Understanding the molecular mechanisms behind isoform-specific expression in a tissue-selective manner could inform novel therapeutic strategies for LGMDR17 and other PLEC-related disorders.
Authors
- Hülya Gündeşli (ORCID: https://orcid.org/0000-0002-1638-9087)
- Haluk Topaloğlu (ORCID: https://orcid.org/0000-0002-3545-3830)
- Pervin Dinçer (ORCID: https://orcid.org/0000-0002-1704-6350)
Institutions
- Yeditepe University (TR)
- Gülhane Askerî Tıp Akademisi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- Hacettepe University (TR)
- University of Health Sciences Antigua (AG)
Publication Details
- Journal
- Muscle & Nerve
- Published
- 2025-12-18
- DOI
- https://doi.org/10.1002/mus.70113
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00