Research on Protein Phosphorylation in Genetic Diseases
A special issue of Kinases and Phosphatases (ISSN 2813-3757).
Deadline for manuscript submissions: closed (31 May 2023) | Viewed by 10241
Special Issue Editors
Interests: protein phosphorylation; acidic protein kinases; tyrosine kinases; kinase inhibitors, signal transduction; post-translational modifications; cancer; cystic fibrosis
Special Issues, Collections and Topics in MDPI journals
Interests: chronic myeloid leukemia; cystic fibrosis; glucose metabolism; drug-resistance; phosphorylation; protein kinase inhibitors; protein kinase ck2; CFTR
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Protein phosphorylation is the most recurrent post-translational modification by which the properties of eukaryotic proteins can be reversibly changed. In a protein, the phosphorylation extent of tyrosine, serine, and threonine sites are regulated by the balance of the action of protein kinases and protein phosphatases. In humans, over 500 protein kinases generate a huge phosphoproteome including more than 200,000 individual phosphosites, and approximately 200 phosphatases are involved in their dephosphorylation. It is well known that an aberrant phosphorylation could take part to the pathogenesis of several human diseases, such as cancer, neurodegenerative diseases, diabetes. Likewise, inherited mutations in genes of specific protein kinases or phosphatases have been identified as the cause of different genetic diseases, such as Pfeiffer syndrome, Crouzon syndrome, Raine syndrome, Donohue syndrome, Noonan syndrome etc. Moreover, also pathological proteins involved in genetic disorders have been shown to have an aberrant function due to the alteration of their phosphorylation state, caused by the disease-associated mutation, including α-synuclein, tau, APP. In this perspective, over the years there has been a progressive interest in the development of drugs that target specific protein kinases and or phosphatases for the treatment of various genetic disorders. This Special Issue will cover the recent progress in all of the areas related to the involvement of protein phosphorylation in genetic diseases. Both original research articles and reviews are welcome.
Dr. Mauro Salvi
Dr. Christian Borgo
Guest Editors
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