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000281633 1001_ $$0P:(DE-2719)9003498$$aFreisem, Dennis$$b0$$udzne
000281633 245__ $$aInborn errors of canonical autophagy in neurodegenerative diseases.
000281633 260__ $$aOxford$$bOxford Univ. Press$$c2025
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000281633 520__ $$aNeurodegenerative disorders (NDDs), characterized by a progressive loss of neurons and cognitive function, are a severe burden to human health and mental fitness worldwide. A hallmark of NDDs such as Alzheimer's disease, Huntington's disease, Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and prion diseases is disturbed cellular proteostasis, resulting in pathogenic deposition of aggregated protein species. Autophagy is a major cellular process maintaining proteostasis and integral to innate immune defenses that mediates lysosomal protein turnover. Defects in autophagy are thus frequently associated with NDDs. In this review, we discuss the interplay between NDDs associated proteins and autophagy and provide an overview over recent discoveries in inborn errors in canonical autophagy proteins that are associated with NDDs. While mutations in autophagy receptors seems to be associated mainly with the development of ALS, errors in mitophagy are mainly found to promote PD. Finally, we argue whether autophagy may impact progress and onset of the disease, as well as the potential of targeting autophagy as a therapeutic approach. Concludingly, understanding disorders due to inborn errors in autophagy-'autophagopathies'-will help to unravel underlying NDD pathomechanisms and provide unique insights into the neuroprotective role of autophagy, thus potentially paving the way for novel therapeutic interventions.
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000281633 650_7 $$2Other$$aautophagy
000281633 650_7 $$2Other$$ainnate immunity
000281633 650_7 $$2Other$$amonogenic diseases
000281633 650_7 $$2Other$$aneurodegenerative diseases
000281633 650_2 $$2MeSH$$aHumans
000281633 650_2 $$2MeSH$$aAutophagy: genetics
000281633 650_2 $$2MeSH$$aNeurodegenerative Diseases: genetics
000281633 650_2 $$2MeSH$$aNeurodegenerative Diseases: pathology
000281633 650_2 $$2MeSH$$aNeurodegenerative Diseases: metabolism
000281633 650_2 $$2MeSH$$aAnimals
000281633 650_2 $$2MeSH$$aMitophagy: genetics
000281633 650_2 $$2MeSH$$aParkinson Disease: genetics
000281633 650_2 $$2MeSH$$aParkinson Disease: pathology
000281633 650_2 $$2MeSH$$aMutation
000281633 650_2 $$2MeSH$$aProteostasis: genetics
000281633 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000281633 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: pathology
000281633 7001_ $$0P:(DE-2719)9003500$$aHoenigsperger, Helene$$b1$$udzne
000281633 7001_ $$0P:(DE-2719)9001873$$aCatanese, Alberto$$b2
000281633 7001_ $$0P:(DE-2719)9003481$$aSparrer, Konstantin$$b3$$udzne
000281633 773__ $$0PERI:(DE-600)1474816-2$$a10.1093/hmg/ddae179$$gVol. 34, no. R1, p. R23 - R34$$nR1$$pR23 - R34$$tHuman molecular genetics$$v34$$x0964-6906$$y2025
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