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Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties

Charcot-Marie-Tooth (CMT) diseases are genetic neuropathies in the peripheral nervous system (PNS). Type 1 CMT diseases are neuropathies in Schwann cells, PNS myelinating glial cells, whereas type 2 CMT diseases are axonal neuropathies. In addition, there are other types of categories in CMT disease...

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Autores principales: Imaizumi, Naoko, Takeuchi, Yu, Hirano, Haruka, Torii, Tomohiro, Seki, Yoichi, Morimoto, Takako, Miyamoto, Yuki, Sakagami, Hiroyuki, Yamauchi, Junji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554220/
https://www.ncbi.nlm.nih.gov/pubmed/31194127
http://dx.doi.org/10.1016/j.dib.2019.104029
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author Imaizumi, Naoko
Takeuchi, Yu
Hirano, Haruka
Torii, Tomohiro
Seki, Yoichi
Morimoto, Takako
Miyamoto, Yuki
Sakagami, Hiroyuki
Yamauchi, Junji
author_facet Imaizumi, Naoko
Takeuchi, Yu
Hirano, Haruka
Torii, Tomohiro
Seki, Yoichi
Morimoto, Takako
Miyamoto, Yuki
Sakagami, Hiroyuki
Yamauchi, Junji
author_sort Imaizumi, Naoko
collection PubMed
description Charcot-Marie-Tooth (CMT) diseases are genetic neuropathies in the peripheral nervous system (PNS). Type 1 CMT diseases are neuropathies in Schwann cells, PNS myelinating glial cells, whereas type 2 CMT diseases are axonal neuropathies. In addition, there are other types of categories in CMT diseases. CMT diseases are associated with approximately 100 responsible genes. Taiwanese mutation (Asn71-to-Tyr) of alanyl-tRNA synthetase (AARS) in type 2N CMT disease has been reported to have several pathological effects on properties of AARS proteins themselves [1]. Also, some mutations in other responsible genes affect cell biological properties of their gene products [2,3]. Herein we provide the data regarding the effects of another type 2N CMT disease-associated AARS mutation (Arg329-to-His) in French family on the cellular properties.
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spelling pubmed-65542202019-06-10 Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties Imaizumi, Naoko Takeuchi, Yu Hirano, Haruka Torii, Tomohiro Seki, Yoichi Morimoto, Takako Miyamoto, Yuki Sakagami, Hiroyuki Yamauchi, Junji Data Brief Neuroscience Charcot-Marie-Tooth (CMT) diseases are genetic neuropathies in the peripheral nervous system (PNS). Type 1 CMT diseases are neuropathies in Schwann cells, PNS myelinating glial cells, whereas type 2 CMT diseases are axonal neuropathies. In addition, there are other types of categories in CMT diseases. CMT diseases are associated with approximately 100 responsible genes. Taiwanese mutation (Asn71-to-Tyr) of alanyl-tRNA synthetase (AARS) in type 2N CMT disease has been reported to have several pathological effects on properties of AARS proteins themselves [1]. Also, some mutations in other responsible genes affect cell biological properties of their gene products [2,3]. Herein we provide the data regarding the effects of another type 2N CMT disease-associated AARS mutation (Arg329-to-His) in French family on the cellular properties. Elsevier 2019-05-24 /pmc/articles/PMC6554220/ /pubmed/31194127 http://dx.doi.org/10.1016/j.dib.2019.104029 Text en © 2019 The Author(s) http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Neuroscience
Imaizumi, Naoko
Takeuchi, Yu
Hirano, Haruka
Torii, Tomohiro
Seki, Yoichi
Morimoto, Takako
Miyamoto, Yuki
Sakagami, Hiroyuki
Yamauchi, Junji
Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties
title Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties
title_full Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties
title_fullStr Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties
title_full_unstemmed Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties
title_short Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties
title_sort data on the effects of charcot-marie-tooth disease type 2n-associated aars missense mutation (arg329-to-his) on the cell biological properties
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554220/
https://www.ncbi.nlm.nih.gov/pubmed/31194127
http://dx.doi.org/10.1016/j.dib.2019.104029
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