CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy
Our findings provide insight, for the first time, into the interactors and possible role of CCDC78 in skeletal muscle, locating the protein in the SR. Furthermore, our data expand on the phenotype previously associated with <i>CCDC78</i> mutations, indicating potential histopathological hallmarks of the disease in human muscle. Based on our data, we can consider <i>CCDC78</i> as the causative gene for CNM4.
Authors
- Gian Nicola Gallus (ORCID: https://orcid.org/0000-0001-5801-223X)
- Nila Volpi (ORCID: https://orcid.org/0000-0002-0837-1864)
- Vincenzo Sorrentino (ORCID: https://orcid.org/0000-0002-8573-8631)
- Daniela Rossi (ORCID: https://orcid.org/0000-0003-0463-7327)
- Francesca Boscaro (ORCID: https://orcid.org/0000-0003-2845-9182)
- Gianna Berti
- Giuseppe Pieraccini (ORCID: https://orcid.org/0000-0003-3103-3924)
- Nicola De Stefano (ORCID: https://orcid.org/0000-0003-4930-7639)
- Silvia Bianchi (ORCID: https://orcid.org/0000-0001-9950-0571)
- Patrizia Formichi (ORCID: https://orcid.org/0000-0001-9523-4691)
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
- Alessandro Malandrini (ORCID: https://orcid.org/0000-0002-4068-8714)
- Diego Lopergolo (ORCID: https://orcid.org/0000-0003-2256-0482)
- G. Serni
- Denise Cassandrini (ORCID: https://orcid.org/0000-0002-3556-8638)
Institutions
- University of Siena (IT)
- Fondazione Stella Maris (IT)
- Azienda Ospedaliera Universitaria Senese (IT)
- University of Florence (IT)
Publication Details
- Journal
- Cells
- Published
- 2024-09-08
- DOI
- https://doi.org/10.3390/cells13171504
- Citations
- 4
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 0.94