The Role of OFD1 in Selective Autophagy

Overview

Journal Mol Cell Oncol

Specialty Oncology

Date 2021 May 24

PMID 34027042

Citations 4

Authors

Brunella Franco

Manuela Morleo

Affiliations

Soon will be listed here.

Abstract

Autophagy is a cellular self-degradative pathway. Our study unveiled a novel mechanism mediated by OFD1, the protein mutated in Oral-Facial-Digital type I syndrome, based on selective degradation of autophagic proteins, which enables cells to calibrate their self-degradation. We demonstrated that unrestrained autophagy contributes to renal cysts observed in mutants.

Citing Articles

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome.

Papuc S, Erbescu A, Glangher A, Streata I, Riza A, Budisteanu M Genes (Basel). 2023; 14(2).

PMID: 36833254 PMC: 9957277. DOI: 10.3390/genes14020327.

A novel non-sense variant in the OFD1 gene caused Joubert syndrome.

Li C, Wang X, Li F, Ding H, Liu L, Xiong Y Front Genet. 2023; 13:1064762.

PMID: 36704348 PMC: 9871390. DOI: 10.3389/fgene.2022.1064762.

Crosstalk between cilia and autophagy: implication for human diseases.

Morleo M, Vieira H, Pennekamp P, Palma A, Bento-Lopes L, Omran H Autophagy. 2022; 19(1):24-43.

PMID: 35613303 PMC: 9809938. DOI: 10.1080/15548627.2022.2067383.

OFD1: One gene, several disorders.

Pezzella N, Bove G, Tammaro R, Franco B Am J Med Genet C Semin Med Genet. 2022; 190(1):57-71.

PMID: 35112477 PMC: 9303915. DOI: 10.1002/ajmg.c.31962.

References

Iaconis D, Monti M, Renda M, van Koppen A, Tammaro R, Chiaravalli M . The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets. Sci Rep. 2017; 7(1):1224. PMC: 5430665. DOI: 10.1038/s41598-017-01156-x. View

Kirkin V . History of the Selective Autophagy Research: How Did It Begin and Where Does It Stand Today?. J Mol Biol. 2019; 432(1):3-27. PMC: 6971693. DOI: 10.1016/j.jmb.2019.05.010. View

Mercer T, Gubas A, Tooze S . A molecular perspective of mammalian autophagosome biogenesis. J Biol Chem. 2018; 293(15):5386-5395. PMC: 5900756. DOI: 10.1074/jbc.R117.810366. View

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B . Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat. 2008; 29(10):1237-46. DOI: 10.1002/humu.20792. View

Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G . Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. Hum Mol Genet. 2010; 19(14):2792-803. PMC: 2893811. DOI: 10.1093/hmg/ddq180. View