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@ARTICLE{RodriguezMuela:157830,
author = {Rodriguez-Muela, Natalia},
title = {{A}utophagy in motor neuron diseases},
journal = {Progress in molecular biology and translational science},
volume = {172},
issn = {1877-1173},
address = {Amsterdam [u.a.]},
publisher = {Elsevier},
reportid = {DZNE-2021-01287},
pages = {157-202},
year = {2020},
abstract = {Motor neuron diseases (MNDs) are a wide group of
neurodegenerative disorders characterized by the
degeneration of a specific neuronal type located in the
central nervous system, the motor neuron (MN). There are two
main types of MNs, spinal and cortical MNs and depending on
the type of MND, one or both types are affected. Cortical
MNs innervate spinal MNs and these control a variety of
cellular targets, being skeletal muscle their main one which
is also affected in MNDs. A correct functionality of
autophagy is necessary for the survival of all cellular
types and it is particularly crucial for neurons, given
their postmitotic and highly specialized nature. Numerous
studies have identified alterations of autophagy activity in
multiple MNDs. The scientific community has been
particularly prolific in reporting the role that autophagy
plays in the most common adult MND, amyotrophic lateral
sclerosis, although many studies have started to identify
physiological and pathological functions of this catabolic
system in other MNDs, such as spinal muscular atrophy and
spinal and bulbar muscular atrophy. The degradation of
selective cargo by autophagy and how this process is altered
upon the presence of MND-causing mutations is currently also
a matter of intense investigation, particularly regarding
the selective autophagic clearance of mitochondria. Thorough
reviews on this field have been recently published. This
chapter will cover the current knowledge on the
functionality of autophagy and lysosomal homeostasis in the
main MNDs and other autophagy-related topics in the MND
field that have risen special interest in the research
community.},
subtyp = {Review Article},
keywords = {Adult / Amyotrophic Lateral Sclerosis: genetics /
Amyotrophic Lateral Sclerosis: pathology / Animals /
Autophagy: drug effects / Autophagy: physiology /
Autophagy-Related Proteins: genetics / Autophagy-Related
Proteins: physiology / C9orf72 Protein: deficiency / C9orf72
Protein: genetics / C9orf72 Protein: physiology / DNA Repeat
Expansion / Disease Models, Animal / Endocytosis / Humans /
Mice, Transgenic / Motor Neuron Disease: genetics / Motor
Neuron Disease: pathology / Muscular Atrophy, Spinal:
genetics / Muscular Atrophy, Spinal: pathology / Mutation /
Neurodegenerative Diseases: genetics / Neurodegenerative
Diseases: pathology / Organelles / RNA-Binding Protein FUS:
deficiency / RNA-Binding Protein FUS: genetics / RNA-Binding
Protein FUS: physiology / TDP-43 Proteinopathies: genetics /
TDP-43 Proteinopathies: pathology},
cin = {AG Rodriguez-Muela},
ddc = {530},
cid = {I:(DE-2719)1713001},
pnm = {352 - Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:32620242},
doi = {10.1016/bs.pmbts.2020.03.009 },
url = {https://pub.dzne.de/record/157830},
}