Characterization of Molecular Mechanisms and Tailored Correction Approaches for Inherited Disorders
A special issue of Applied Sciences (ISSN 2076-3417). This special issue belongs to the section "Applied Biosciences and Bioengineering".
Deadline for manuscript submissions: closed (30 September 2021) | Viewed by 5975
Special Issue Editors
Interests: missense/nonsense mutations; ribosome readthrough; rare diseases; albumin fusion proteins
Special Issues, Collections and Topics in MDPI journals
Interests: splicing; RNA; inherited disease; snRNA; AON; gene therapy; mouse model
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Mutations affecting coding and non-coding gene regions result in the alteration of the normal flow of genetic information at different levels. To this purpose, the identification of novel mutations through next-generation or whole-exome sequencing and case reports in the context of rare disorders, as well as experimental tools such as cellular and animal models of disease, provide relevant qualitative and quantitive information.
The identification and characterization of the molecular mechanism(s) underlying these alterations are pivotal to understand the effect of a specific mutation and, as a consequence, offer the possibility to identify tailored correction approaches able to restore gene expression. Moreover, the knowledge of disease mechanisms paves the way for the development of tailored correction approaches, ranging from genome-oriented strategies to intervention at the transcriptional/post-transcriptional (e.g., promoter activation or splicing modulation) or translational/post-translational (e.g., modulation of ribosome activity) levels.
Overall, the identification and characterization of new disease-causing molecular mechanisms, the widening of gene mutational patterns, particularly for rare diseases, and/or the possibility to correct a specific gene defect, thus counteracting the detrimental effects of mutations, represent important issues to address in order to improve and deepen our knowledge of human genetic disorders.
Dr. Alessio Branchini
Dr. Dario Balestra
Guest Editors
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Keywords
- Genetic disorders
- Gene mutation
- Corraction approaches
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