TY  - JOUR
AU  - Rodriguez-Muela, Natalia
TI  - Autophagy in motor neuron diseases
JO  - Progress in molecular biology and translational science
VL  - 172
SN  - 1877-1173
CY  - Amsterdam ˜[u.a.]œ
PB  - Elsevier
M1  - DZNE-2021-01287
SP  - 157-202
PY  - 2020
AB  - 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.
KW  - Adult
KW  - Amyotrophic Lateral Sclerosis: genetics
KW  - Amyotrophic Lateral Sclerosis: pathology
KW  - Animals
KW  - Autophagy: drug effects
KW  - Autophagy: physiology
KW  - Autophagy-Related Proteins: genetics
KW  - Autophagy-Related Proteins: physiology
KW  - C9orf72 Protein: deficiency
KW  - C9orf72 Protein: genetics
KW  - C9orf72 Protein: physiology
KW  - DNA Repeat Expansion
KW  - Disease Models, Animal
KW  - Endocytosis
KW  - Humans
KW  - Mice, Transgenic
KW  - Motor Neuron Disease: genetics
KW  - Motor Neuron Disease: pathology
KW  - Muscular Atrophy, Spinal: genetics
KW  - Muscular Atrophy, Spinal: pathology
KW  - Mutation
KW  - Neurodegenerative Diseases: genetics
KW  - Neurodegenerative Diseases: pathology
KW  - Organelles
KW  - RNA-Binding Protein FUS: deficiency
KW  - RNA-Binding Protein FUS: genetics
KW  - RNA-Binding Protein FUS: physiology
KW  - TDP-43 Proteinopathies: genetics
KW  - TDP-43 Proteinopathies: pathology
LB  - PUB:(DE-HGF)16
C6  - pmid:32620242
DO  - DOI:10.1016/bs.pmbts.2020.03.009 
UR  - https://pub.dzne.de/record/157830
ER  -