Cargando…
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...
Autores principales: | , , , , , , , , |
---|---|
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 |
_version_ | 1783424926003232768 |
---|---|
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. |
format | Online Article Text |
id | pubmed-6554220 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT imaizuminaoko dataontheeffectsofcharcotmarietoothdiseasetype2nassociatedaarsmissensemutationarg329tohisonthecellbiologicalproperties AT takeuchiyu dataontheeffectsofcharcotmarietoothdiseasetype2nassociatedaarsmissensemutationarg329tohisonthecellbiologicalproperties AT hiranoharuka dataontheeffectsofcharcotmarietoothdiseasetype2nassociatedaarsmissensemutationarg329tohisonthecellbiologicalproperties AT toriitomohiro dataontheeffectsofcharcotmarietoothdiseasetype2nassociatedaarsmissensemutationarg329tohisonthecellbiologicalproperties AT sekiyoichi dataontheeffectsofcharcotmarietoothdiseasetype2nassociatedaarsmissensemutationarg329tohisonthecellbiologicalproperties AT morimototakako dataontheeffectsofcharcotmarietoothdiseasetype2nassociatedaarsmissensemutationarg329tohisonthecellbiologicalproperties AT miyamotoyuki dataontheeffectsofcharcotmarietoothdiseasetype2nassociatedaarsmissensemutationarg329tohisonthecellbiologicalproperties AT sakagamihiroyuki dataontheeffectsofcharcotmarietoothdiseasetype2nassociatedaarsmissensemutationarg329tohisonthecellbiologicalproperties AT yamauchijunji dataontheeffectsofcharcotmarietoothdiseasetype2nassociatedaarsmissensemutationarg329tohisonthecellbiologicalproperties |