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Other research product . Other ORP type . 2018

Genetic aberrations in macroautophagy genes leading to diseases

van Beek, Nienke; Klionsky, Daniel J; Reggiori, Fulvio;
Open Access   English  
Published: 01 May 2018
Abstract
The catabolic process of macroautophagy, through the rapid degradation of unwanted cellular components, is involved in a multitude of cellular and organismal functions that are essential to maintain homeostasis. Those functions include adaptation to starvation, cell development and differentiation, innate and adaptive immunity, tumor suppression, autophagic cell death, and maintenance of stem cell stemness. Not surprisingly, an impairment or block of macroautophagy can lead to severe pathologies. A still increasing number of reports, in particular, have revealed that mutations in the autophagy-related (ATG) genes, encoding the key players of macroautophagy, are either the cause or represent a risk factor for the development of several illnesses. The aim of this review is to provide a comprehensive overview of the diseases and disorders currently known that are or could be caused by mutations in core ATG proteins but also in the so-called autophagy receptors, which provide specificity to the process of macroautophagy. Our compendium underlines the medical relevance of this pathway and underscores the importance of the eventual development of therapeutic approaches aimed at modulating macroautophagy.
Subjects

ATG proteins, Autophagy, Autophagy receptor, Genetic disorders, Polymorphisms, SPORADIC PARKINSONS-DISEASE, INFLAMMATORY-BOWEL-DISEASE, SYSTEMIC-LUPUS-ERYTHEMATOSUS, AMYOTROPHIC-LATERAL-SCLEROSIS, BRAIN IRON ACCUMULATION, GENOME-WIDE ASSOCIATION, CHINESE HAN POPULATION, PAGETS-DISEASE, SELECTIVE AUTOPHAGY, CROHNS-DISEASE

Related Organizations
173 references, page 1 of 18

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Funded by
NWO| A three-dimensional look into autophagy
Project
  • Funder: Netherlands Organisation for Scientific Research (NWO) (NWO)
  • Project Code: 2300175771
,
EC| DRIVE
Project
DRIVE
Driving next generation autophagy researchers towards translation
  • Funder: European Commission (EC)
  • Project Code: 765912
  • Funding stream: H2020 | MSCA-ITN-ETN
,
EC| PRONKJEWAIL
Project
PRONKJEWAIL
Protecting patients with enhanced susceptibility to infections
  • Funder: European Commission (EC)
  • Project Code: 713660
  • Funding stream: H2020 | MSCA-COFUND-DP
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NARCIS
Other ORP type . 2018
Providers: NARCIS