: The balance of protein synthesis and degradation is finely regulated and influences cellular homeostasis and biological processes (e.g., embryonic development and neuronal plasticity). Recent data demonstrated that centrosomal/ciliary proteins enable proteome control in response to spatial or microenvironmental stimuli. Here, we discuss recent discoveries regarding the role in the balance of the proteome of centrosomal/ciliary proteins associated with genetic disorders known as ciliopathies. In particular, OFD1 was the first example of a ciliopathy protein controlling both protein expression and autophagic/proteasomal degradation. Understanding the role of proteome balance in the pathogenesis of the clinical manifestations of ciliopathies may pave the way to the identification of a wide range of putative novel therapeutic targets for these conditions.

Proteome balance in ciliopathies: the OFD1 protein example / Morleo, Manuela; Pezzella, Nunziana; Franco, Brunella. - In: TRENDS IN MOLECULAR MEDICINE. - ISSN 1471-499X. - 29:3(2023), pp. 201-217. [10.1016/j.molmed.2022.11.007]

Proteome balance in ciliopathies: the OFD1 protein example

Pezzella, Nunziana;Franco, Brunella
2023

Abstract

: The balance of protein synthesis and degradation is finely regulated and influences cellular homeostasis and biological processes (e.g., embryonic development and neuronal plasticity). Recent data demonstrated that centrosomal/ciliary proteins enable proteome control in response to spatial or microenvironmental stimuli. Here, we discuss recent discoveries regarding the role in the balance of the proteome of centrosomal/ciliary proteins associated with genetic disorders known as ciliopathies. In particular, OFD1 was the first example of a ciliopathy protein controlling both protein expression and autophagic/proteasomal degradation. Understanding the role of proteome balance in the pathogenesis of the clinical manifestations of ciliopathies may pave the way to the identification of a wide range of putative novel therapeutic targets for these conditions.
2023
Proteome balance in ciliopathies: the OFD1 protein example / Morleo, Manuela; Pezzella, Nunziana; Franco, Brunella. - In: TRENDS IN MOLECULAR MEDICINE. - ISSN 1471-499X. - 29:3(2023), pp. 201-217. [10.1016/j.molmed.2022.11.007]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/913518
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