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Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy

Krabbe Disease (KD) is an autosomal metabolic disorder that affects both the central and peripheral nervous systems. It is caused by a functional deficiency of the lysosomal enzyme, galactocerebrosidase (GALC), resulting in an accumulation of the toxic metabolite, psychosine. Psychosine accumulation...

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Autores principales: Nasir, Gibran, Chopra, Rajiv, Elwood, Fiona, Ahmed, Seemin S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633897/
https://www.ncbi.nlm.nih.gov/pubmed/34869463
http://dx.doi.org/10.3389/fmed.2021.760236
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author Nasir, Gibran
Chopra, Rajiv
Elwood, Fiona
Ahmed, Seemin S.
author_facet Nasir, Gibran
Chopra, Rajiv
Elwood, Fiona
Ahmed, Seemin S.
author_sort Nasir, Gibran
collection PubMed
description Krabbe Disease (KD) is an autosomal metabolic disorder that affects both the central and peripheral nervous systems. It is caused by a functional deficiency of the lysosomal enzyme, galactocerebrosidase (GALC), resulting in an accumulation of the toxic metabolite, psychosine. Psychosine accumulation affects many different cellular pathways, leading to severe demyelination. Although there is currently no effective therapy for Krabbe disease, recent gene therapy-based approaches in animal models have indicated a promising outlook for clinical treatment. This review highlights recent findings in the pathogenesis of Krabbe disease, and evaluates AAV-based gene therapy as a promising strategy for treating this devastating pediatric disease.
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spelling pubmed-86338972021-12-02 Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy Nasir, Gibran Chopra, Rajiv Elwood, Fiona Ahmed, Seemin S. Front Med (Lausanne) Medicine Krabbe Disease (KD) is an autosomal metabolic disorder that affects both the central and peripheral nervous systems. It is caused by a functional deficiency of the lysosomal enzyme, galactocerebrosidase (GALC), resulting in an accumulation of the toxic metabolite, psychosine. Psychosine accumulation affects many different cellular pathways, leading to severe demyelination. Although there is currently no effective therapy for Krabbe disease, recent gene therapy-based approaches in animal models have indicated a promising outlook for clinical treatment. This review highlights recent findings in the pathogenesis of Krabbe disease, and evaluates AAV-based gene therapy as a promising strategy for treating this devastating pediatric disease. Frontiers Media S.A. 2021-11-11 /pmc/articles/PMC8633897/ /pubmed/34869463 http://dx.doi.org/10.3389/fmed.2021.760236 Text en Copyright © 2021 Nasir, Chopra, Elwood and Ahmed. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Nasir, Gibran
Chopra, Rajiv
Elwood, Fiona
Ahmed, Seemin S.
Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy
title Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy
title_full Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy
title_fullStr Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy
title_full_unstemmed Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy
title_short Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy
title_sort krabbe disease: prospects of finding a cure using aav gene therapy
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633897/
https://www.ncbi.nlm.nih.gov/pubmed/34869463
http://dx.doi.org/10.3389/fmed.2021.760236
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