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Genetic aberrations in macroautophagy genes leading to diseases

Authors: van Beek, Nienke; Klionsky, Daniel J; Reggiori, Fulvio;

Genetic aberrations in macroautophagy genes leading to diseases

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.

Country
Netherlands
Related Organizations
Keywords

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

173 references, page 1 of 18

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[2] H. Nakatogawa, K. Suzuki, Y. Kamada, Y. Ohsumi, Dynamics and diversity in autophagy mechanisms: lessons from yeast, Nat. Rev. Mol. Cell Biol. 10 (2009) 458-467.

[3] Z. Yang, D.J. Klionsky, Mammalian autophagy: core molecular machinery and signaling regulation, Curr. Opin. Cell Biol. 22 (2010) 124-131.

[4] J. Bestebroer, P. V'kovski, M. Mauthe, F. Reggiori, Hidden behind autophagy: the unconventional roles of ATG proteins, Traffic 14 (2013) 1029-1041.

[5] C.A. Lamb, T. Yoshimori, S.A. Tooze, The autophagosome: origins unknown, biogenesis complex, Nat. Rev. Mol. Cell Biol. 14 (2013) 759-774.

[6] D. Papinski, M. Schuschnig, W. Reiter, L. Wilhelm, C.A. Barnes, A. Maiolica, et al., Early steps in autophagy depend on direct phosphorylation of Atg9 by the Atg1 kinase, Mol. Cell 53 (3) (2014) 471-483. [OpenAIRE]

[7] D. Papinski, C. Kraft, Regulation of autophagy by signaling through the Atg1/ ULK1 complex, J. Mol. Biol. 428 (2016) 1725-1741. [OpenAIRE]

[8] C. Dall'Armi, K.A. Devereaux, G. Di Paolo, The role of lipids in the control of autophagy, Curr. Biol. 23 (2013) R45.

[9] T. Noda, K. Matsunaga, N. Taguchi-Atarashi, T. Yoshimori, Regulation of membrane biogenesis in autophagy via PI3P dynamics, Semin. Cell Dev. Biol. 21 (2010) 671-676.

[10] T. Sekito, T. Kawamata, R. Ichikawa, K. Suzuki, Y. Ohsumi, Atg17 recruits Atg9 to organize the pre-autophagosomal structure, Genes Cells (2009) 525-538.

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  • citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    0
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Funded by
EC| DRIVE
Project
DRIVE
Driving next generation autophagy researchers towards translation
  • Funder: European Commission (EC)
  • Project Code: 765912
  • Funding stream: H2020 | MSCA-ITN-ETN
,
NWO| A three-dimensional look into autophagy
Project
  • Funder: Netherlands Organisation for Scientific Research (NWO) (NWO)
  • Project Code: 016.130.606
iis
,
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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