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Cited by 162Amyotrophic Lateral Sclerosis ResearchHereditary Neurological DisordersAlzheimer's disease research and treatments

Disrupted neuronal trafficking in amyotrophic lateral sclerosis

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Burk, Katja, Pasterkamp, R. Jeroen·2019·Acta Neuropathologica
DOI 10.1007/s00401-019-01964-7PMC PMC6531423
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Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive, adult-onset neurodegenerative disease caused by degeneration of motor neurons in the brain and spinal cord leading to muscle weakness. Median survival after symptom onset in patients is 3-5 years and no effective therapies are available to treat or cure ALS. Therefore, further insight is needed into the molecular and cellular mechanisms that cause motor neuron degeneration and ALS. Different ALS disease mechanisms have been identified and recent evidence supports a prominent role for defects in intracellular transport. Several different ALS-causing gene mutations (e.g., in FUS, TDP-43, or C9ORF72) have been linked to defects in neuronal trafficking and a picture is emerging on how these defects may trigger disease. This review summarizes and discusses these recent findings. An overview of how endosomal and receptor trafficking are affected in ALS is followed by a description on dysregulated autophagy and ER/Golgi trafficking. Finally, changes in axonal transport and nucleocytoplasmic transport are discussed. Further insight into intracellular trafficking defects in ALS will deepen our understanding of ALS pathogenesis and will provide novel avenues for therapeutic intervention.

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  • Expression of C9ORF72 is associated with endocytosis of TrkB in neurons.

    “Further, the expression of C9ORF72 is associated with endocytosis of tropomyosin receptor kinase receptor B (TrkB) (essential for the development and functioning of nervous system) in neurons [170].”

    From Insights of Endocytosis Signaling in Health and Disease (2023) · cites this paper as [170]

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Cited by

Sorted by citations

Authors
Burk, K., & Pasterkamp, R. J.
Affiliations
  • Universitätsmedizin Göttingen (DE)
  • Utrecht University (NL)
Corresponding author
  • Burk, Katja
  • Pasterkamp, R. Jeroen
ORCID
Venue
Acta Neuropathologica
Publisher
Springer Science and Business Media LLC
Published
2019-02-05
Volume
137
Issue
6
Pages
859-877
ISSN
  • 0001-6322 (ISSN-L)
  • 1432-0533
DOI
10.1007/s00401-019-01964-7
PMC
PMC6531423
OpenAlex
W2912043444
Cited by
162
References
17
Citations by year
2026: 13 · 2025: 19 · 2024: 20 · 2023: 23 · 2022: 16 · 2021: 31 · 2020: 29 · 2019: 11
FWCI
2.91
Type
journal article
Language
en
Open access
Licence
Locations
  • Acta Neuropathologica (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
  • GoeScholar The Publication Server of the Georg-August-Universität Göttingen (Georg-August-Universität Göttingen) (submittedVersion, cc-by)
Funders
  • Dutch ALS Foundation (-)
  • Prinses Beatrix Spierfonds (-)
  • Center for Nanoscale Microscopy and Molecular Physiology (-)
Topics
  • Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Keywords
amyotrophic lateral sclerosis, intracellular trafficking, motor neuron degeneration, FUS, TDP-43, C9orf72, endosomal trafficking, receptor trafficking, autophagy, ER-Golgi trafficking, axonal transport, nuclear transport, ALS pathogenesis
MeSH terms
C9orf72 Protein, Valosin Containing Protein, Amyotrophic Lateral Sclerosis, Autophagy, Axonal Transport, Biological Transport, Endoplasmic Reticulum, Flavoproteins, Golgi Apparatus, Humans, Lysosomes, Motor Neurons, Mutation, Nerve Degeneration, Nerve Tissue Proteins, Phosphoric Monoester Hydrolases, Endosomes, Receptors, N-Methyl-D-Aspartate, Receptors, Glutamate, rab GTP-Binding Proteins, Protein Transport, DNA Repeat Expansion, TDP-43 Proteinopathies

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