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ABCA7—A Member of the ABC Transporter Family in Healthy and Ailing Brain

Identification of genetic markers of a human disease, which is generally sporadic, may become an essential tool for the investigation of its molecular mechanisms. The role of ABCA7 in Alzheimer’s disease (AD) was discovered less than ten years ago when meta-analyses provided evidence that rs3764650...

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Autores principales: Surguchev, Alexei A., Surguchov, Andrei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071517/
https://www.ncbi.nlm.nih.gov/pubmed/32098344
http://dx.doi.org/10.3390/brainsci10020121
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author Surguchev, Alexei A.
Surguchov, Andrei
author_facet Surguchev, Alexei A.
Surguchov, Andrei
author_sort Surguchev, Alexei A.
collection PubMed
description Identification of genetic markers of a human disease, which is generally sporadic, may become an essential tool for the investigation of its molecular mechanisms. The role of ABCA7 in Alzheimer’s disease (AD) was discovered less than ten years ago when meta-analyses provided evidence that rs3764650 is a new AD susceptibility locus. Recent research advances in this locus and new evidence regarding ABCA7 contribution to the AD pathogenesis brought a new understanding of the underlying mechanisms of this disorder. An interesting, up-to-date review article "ABCA7 and Pathogenic Pathways of Alzheimer’s Disease" by Aikawa et al. (2018), outlines the ABCA7 role in AD and summarizes new findings in this exciting area. ABC transporters or ATP-binding cassette transporters are a superfamily of proteins belonging to a cell transport system. Currently, members of the family are the focus of attention because of their central role in drug pharmacokinetics. Two recent findings are the reason why much attention is drawn to the ABCA7 family. First, is the biochemical data showing a role of ABCA7 in amyloid pathology. Second, genetic data identifying ABCA7 gene variants as loci responsible for the late-onset AD. These results point to the ABCA7 as a significant new contributor to the pathogenesis of AD.
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spelling pubmed-70715172020-03-19 ABCA7—A Member of the ABC Transporter Family in Healthy and Ailing Brain Surguchev, Alexei A. Surguchov, Andrei Brain Sci Editorial Identification of genetic markers of a human disease, which is generally sporadic, may become an essential tool for the investigation of its molecular mechanisms. The role of ABCA7 in Alzheimer’s disease (AD) was discovered less than ten years ago when meta-analyses provided evidence that rs3764650 is a new AD susceptibility locus. Recent research advances in this locus and new evidence regarding ABCA7 contribution to the AD pathogenesis brought a new understanding of the underlying mechanisms of this disorder. An interesting, up-to-date review article "ABCA7 and Pathogenic Pathways of Alzheimer’s Disease" by Aikawa et al. (2018), outlines the ABCA7 role in AD and summarizes new findings in this exciting area. ABC transporters or ATP-binding cassette transporters are a superfamily of proteins belonging to a cell transport system. Currently, members of the family are the focus of attention because of their central role in drug pharmacokinetics. Two recent findings are the reason why much attention is drawn to the ABCA7 family. First, is the biochemical data showing a role of ABCA7 in amyloid pathology. Second, genetic data identifying ABCA7 gene variants as loci responsible for the late-onset AD. These results point to the ABCA7 as a significant new contributor to the pathogenesis of AD. MDPI 2020-02-22 /pmc/articles/PMC7071517/ /pubmed/32098344 http://dx.doi.org/10.3390/brainsci10020121 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Editorial
Surguchev, Alexei A.
Surguchov, Andrei
ABCA7—A Member of the ABC Transporter Family in Healthy and Ailing Brain
title ABCA7—A Member of the ABC Transporter Family in Healthy and Ailing Brain
title_full ABCA7—A Member of the ABC Transporter Family in Healthy and Ailing Brain
title_fullStr ABCA7—A Member of the ABC Transporter Family in Healthy and Ailing Brain
title_full_unstemmed ABCA7—A Member of the ABC Transporter Family in Healthy and Ailing Brain
title_short ABCA7—A Member of the ABC Transporter Family in Healthy and Ailing Brain
title_sort abca7—a member of the abc transporter family in healthy and ailing brain
topic Editorial
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071517/
https://www.ncbi.nlm.nih.gov/pubmed/32098344
http://dx.doi.org/10.3390/brainsci10020121
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