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Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum: Providing Focus Through the Lens of Autophagy

Research output: Contribution to journalReview article

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Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum : Providing Focus Through the Lens of Autophagy. / Casterton, Rebecca L.; Hunt, Rachel J.; Fanto, Manolis.

In: Journal of Molecular Biology, 01.01.2020.

Research output: Contribution to journalReview article

Harvard

Casterton, RL, Hunt, RJ & Fanto, M 2020, 'Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum: Providing Focus Through the Lens of Autophagy', Journal of Molecular Biology. https://doi.org/10.1016/j.jmb.2020.02.018

APA

Casterton, R. L., Hunt, R. J., & Fanto, M. (Accepted/In press). Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum: Providing Focus Through the Lens of Autophagy. Journal of Molecular Biology. https://doi.org/10.1016/j.jmb.2020.02.018

Vancouver

Casterton RL, Hunt RJ, Fanto M. Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum: Providing Focus Through the Lens of Autophagy. Journal of Molecular Biology. 2020 Jan 1. https://doi.org/10.1016/j.jmb.2020.02.018

Author

Casterton, Rebecca L. ; Hunt, Rachel J. ; Fanto, Manolis. / Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum : Providing Focus Through the Lens of Autophagy. In: Journal of Molecular Biology. 2020.

Bibtex Download

@article{30105c801dc4413ba1cba59206674133,
title = "Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum: Providing Focus Through the Lens of Autophagy",
abstract = "Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) constitute aggressive neurodegenerative pathologies that lead to the progressive degeneration of upper and lower motor neurons and of neocortical areas, respectively. In the past decade, the identification of several genes that cause these disorders indicated that the two diseases overlap in a multifaceted spectrum of conditions. The autophagy-lysosome system has been identified as a main intersection for the onset and progression of neurodegeneration in ALS/FTD. Genetic evidence has revealed that several genes with a mechanistic role at different stages of the autophagy process are mutated in patients with ALS/FTD. Moreover, the three main proteins aggregating in ALS/FTD, including in sporadic cases, are also targeted by autophagy and affect this process. Here, we examine the varied dysfunctions and degrees of involvement of the autophagy-lysosome system that have been discovered in ALS/FTD. We argue that these findings shed light on the pathological mechanisms in the ALS/FTD spectrum and conclude that they have important consequences both for treatment options and for the basic biomolecular understanding of how this process intersects with RNA metabolism, the other major cellular process reported to be dysfunctional in part of the ALS/FTD spectrum.",
keywords = "ALS, Autophagy, FTD, TDP-43",
author = "Casterton, {Rebecca L.} and Hunt, {Rachel J.} and Manolis Fanto",
year = "2020",
month = "1",
day = "1",
doi = "10.1016/j.jmb.2020.02.018",
language = "English",
journal = "Journal of Molecular Biology",
issn = "0022-2836",
publisher = "Elsevier B.V.",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum

T2 - Providing Focus Through the Lens of Autophagy

AU - Casterton, Rebecca L.

AU - Hunt, Rachel J.

AU - Fanto, Manolis

PY - 2020/1/1

Y1 - 2020/1/1

N2 - Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) constitute aggressive neurodegenerative pathologies that lead to the progressive degeneration of upper and lower motor neurons and of neocortical areas, respectively. In the past decade, the identification of several genes that cause these disorders indicated that the two diseases overlap in a multifaceted spectrum of conditions. The autophagy-lysosome system has been identified as a main intersection for the onset and progression of neurodegeneration in ALS/FTD. Genetic evidence has revealed that several genes with a mechanistic role at different stages of the autophagy process are mutated in patients with ALS/FTD. Moreover, the three main proteins aggregating in ALS/FTD, including in sporadic cases, are also targeted by autophagy and affect this process. Here, we examine the varied dysfunctions and degrees of involvement of the autophagy-lysosome system that have been discovered in ALS/FTD. We argue that these findings shed light on the pathological mechanisms in the ALS/FTD spectrum and conclude that they have important consequences both for treatment options and for the basic biomolecular understanding of how this process intersects with RNA metabolism, the other major cellular process reported to be dysfunctional in part of the ALS/FTD spectrum.

AB - Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) constitute aggressive neurodegenerative pathologies that lead to the progressive degeneration of upper and lower motor neurons and of neocortical areas, respectively. In the past decade, the identification of several genes that cause these disorders indicated that the two diseases overlap in a multifaceted spectrum of conditions. The autophagy-lysosome system has been identified as a main intersection for the onset and progression of neurodegeneration in ALS/FTD. Genetic evidence has revealed that several genes with a mechanistic role at different stages of the autophagy process are mutated in patients with ALS/FTD. Moreover, the three main proteins aggregating in ALS/FTD, including in sporadic cases, are also targeted by autophagy and affect this process. Here, we examine the varied dysfunctions and degrees of involvement of the autophagy-lysosome system that have been discovered in ALS/FTD. We argue that these findings shed light on the pathological mechanisms in the ALS/FTD spectrum and conclude that they have important consequences both for treatment options and for the basic biomolecular understanding of how this process intersects with RNA metabolism, the other major cellular process reported to be dysfunctional in part of the ALS/FTD spectrum.

KW - ALS

KW - Autophagy

KW - FTD

KW - TDP-43

UR - http://www.scopus.com/inward/record.url?scp=85081692335&partnerID=8YFLogxK

U2 - 10.1016/j.jmb.2020.02.018

DO - 10.1016/j.jmb.2020.02.018

M3 - Review article

C2 - 32119873

AN - SCOPUS:85081692335

JO - Journal of Molecular Biology

JF - Journal of Molecular Biology

SN - 0022-2836

ER -

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