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Spliceosome Mutations in Human Disease

Guest Editor:
Alejandro Ibáñez-Costa: Maimonides Biomedical Research Institute of Córdoba; Department of Cell Biology, Physiology, and Immunology, University of Córdoba; Hospital Universitario Reina Sofía, Córdoba, Spain


BMC Medical Genomics called for submissions to our collection on "Spliceosome mutations in human disease". Splicing is a crucial process to transform precursor mRNAs to their active form. The spliceosome is a very large ribonucleoprotein facilitating this process. The spliceosome is a complex structure which conformation and composition are highly dynamic. As altered splicing has been shown to cause a variety of diseases in a variety of tissues, elucidating functions and issues with this ribonucleoprotein complex forms the foundation for understanding the conditions presented in the clinic. 

Meet the Guest Editor

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Alejandro Ibáñez-Costa: Maimonides Biomedical Research Institute of Córdoba; Department of Cell Biology, Physiology, and Immunology, University of Córdoba; Hospital Universitario Reina Sofía, Córdoba, Spain

Dr. Alejandro Ibáñez-Costa works as a Researcher at the Maimonides Biomedical Research Institute of Córdoba (IMIBIC, Spain). His research interests focus on the functional characterization of the family of somatostatin and its receptors, and the dysregulation of the RNA splicing process, mainly in neuroendocrine tumors and other cancers, but also in autoimmune disorders. He has authored more than 40 peer-review articles on endocrinology, rheumatology, cell biology, and oncology.


About the collection

BMC Medical Genomics is calling for submissions to our collection on "spliceosome mutations in human disease". Splicing is a crucial process to transform precursor mRNAs to their active form. The spliceosome is a very large ribonucleoprotein facilitating this process. The spliceosome is a complex structure which conformation and composition are highly dynamic. As altered splicing has been shown to cause a variety of diseases in a variety of tissues, elucidating functions and issues with this ribonucleoprotein complex forms the foundation for understanding the conditions presented in the clinic. 

This collection is aimed at research providing novel insight into spliceosome mechanisms, structure and function, as well as the role of aberrant spliceosome function in human disease.



Image credit: nobeastsofierce / stock.adobe.com

  1. ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare...

    Authors: Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan and Zailong Qin
    Citation: BMC Medical Genomics 2024 17:44
    Content type: Research Published on:

  2. This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases.

    Authors: Linxue Meng, Dishu Huang, Lingling Xie, Xiaojie Song, Hanyu Luo, Jianxiong Gui, Ran Ding, Xiaofang Zhang and Li Jiang
    Citation: BMC Medical Genomics 2023 16:292
    Content type: Research Published on:

Submission Guidelines

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This Collection welcomes submission of Research Articles. Before submitting your manuscript, please ensure you have read our submission guidelines. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Spliceosome Mutations in Human Disease" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Guest Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Guest Editors have competing interests is handled by another Editorial Board Member who has no competing interests.