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Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review

Mutations in the 43 kDa transactive-response (TAR)-DNA-binding protein (TARDBP) are associated with 2–5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. TAR DNA-Binding Protein 43 (TDP-43) is an RNA/DNA-binding protein involved in several cellular mechanisms (e.g., transcription, pre-mRNA pro...

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Autores principales: Lombardi, Michele, Corrado, Lucia, Piola, Beatrice, Comi, Cristoforo, Cantello, Roberto, D’Alfonso, Sandra, Mazzini, Letizia, De Marchi, Fabiola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671725/
https://www.ncbi.nlm.nih.gov/pubmed/38002982
http://dx.doi.org/10.3390/genes14112039
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author Lombardi, Michele
Corrado, Lucia
Piola, Beatrice
Comi, Cristoforo
Cantello, Roberto
D’Alfonso, Sandra
Mazzini, Letizia
De Marchi, Fabiola
author_facet Lombardi, Michele
Corrado, Lucia
Piola, Beatrice
Comi, Cristoforo
Cantello, Roberto
D’Alfonso, Sandra
Mazzini, Letizia
De Marchi, Fabiola
author_sort Lombardi, Michele
collection PubMed
description Mutations in the 43 kDa transactive-response (TAR)-DNA-binding protein (TARDBP) are associated with 2–5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. TAR DNA-Binding Protein 43 (TDP-43) is an RNA/DNA-binding protein involved in several cellular mechanisms (e.g., transcription, pre-mRNA processing, and splicing). Many ALS-linked TARDBP mutations have been described in the literature, but few phenotypic data on monogenic TARDBP-mutated ALS are available. In this paper, (1) we describe the clinical features of ALS patients carrying mutations in the TARDBP gene evaluated at the Tertiary ALS Center at Maggiore della Carità University Hospital, Novara, Italy, from 2010 to 2020 and (2) present the results of our review of the literature on this topic, analyzing data obtained for 267 patients and highlighting their main clinical and demographic features.
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spelling pubmed-106717252023-11-04 Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review Lombardi, Michele Corrado, Lucia Piola, Beatrice Comi, Cristoforo Cantello, Roberto D’Alfonso, Sandra Mazzini, Letizia De Marchi, Fabiola Genes (Basel) Article Mutations in the 43 kDa transactive-response (TAR)-DNA-binding protein (TARDBP) are associated with 2–5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. TAR DNA-Binding Protein 43 (TDP-43) is an RNA/DNA-binding protein involved in several cellular mechanisms (e.g., transcription, pre-mRNA processing, and splicing). Many ALS-linked TARDBP mutations have been described in the literature, but few phenotypic data on monogenic TARDBP-mutated ALS are available. In this paper, (1) we describe the clinical features of ALS patients carrying mutations in the TARDBP gene evaluated at the Tertiary ALS Center at Maggiore della Carità University Hospital, Novara, Italy, from 2010 to 2020 and (2) present the results of our review of the literature on this topic, analyzing data obtained for 267 patients and highlighting their main clinical and demographic features. MDPI 2023-11-04 /pmc/articles/PMC10671725/ /pubmed/38002982 http://dx.doi.org/10.3390/genes14112039 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Lombardi, Michele
Corrado, Lucia
Piola, Beatrice
Comi, Cristoforo
Cantello, Roberto
D’Alfonso, Sandra
Mazzini, Letizia
De Marchi, Fabiola
Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review
title Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review
title_full Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review
title_fullStr Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review
title_full_unstemmed Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review
title_short Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review
title_sort variability in clinical phenotype in tardbp mutations: amyotrophic lateral sclerosis case description and literature review
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671725/
https://www.ncbi.nlm.nih.gov/pubmed/38002982
http://dx.doi.org/10.3390/genes14112039
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