View in EDS

Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families.

Saved in:
Bibliographic Details
Title: Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families.
Authors: Arancibia F; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile., Martin F; Unidad Asesoramiento Genético Oncológico, Fundación Arturo López Pérez, Santiago, Chile., Ruiz-Fuentes J; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile., Diaz E; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.; Center for Bioinformatics, Simulations and Modelling (CBSM), University of Talca, 3460000, Talca, Chile., Hermosilla T; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile., Gonzalez W; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.; Center for Bioinformatics, Simulations and Modelling (CBSM), University of Talca, 3460000, Talca, Chile., Simon F; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.; Laboratory of Integrative Physiopathology, Faculty of Life Sciences, Universidad Andres Bello, Santiago, Chile.; Millennium Institute On Immunology and Immunotherapy, Santiago, Chile., Avila-Jaque D; Hospital San Juan de Dios, Santiago, Chile., Luna-Álvarez M; Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico., Dávila Ortiz de Montellano DJ; Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico., Miranda M; Fundación Diagnosis, Santiago, Chile.; Clínica MEDS, Santiago, Chile., Bustamante ML; Fundación Diagnosis, Santiago, Chile. mbustamante@uchile.cl.; Programa de Genética, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile. mbustamante@uchile.cl., Varela D; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile. dvarela@uchile.cl.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile. dvarela@uchile.cl.
Source: Biological research [Biol Res] 2025 Mar 26; Vol. 58 (1), pp. 18. Date of Electronic Publication: 2025 Mar 26.
Publication Type: Journal Article
Journal Info: Publisher: Biomed Central, Ltd Country of Publication: England NLM ID: 9308271 Publication Model: Electronic Cited Medium: Internet ISSN: 0717-6287 (Electronic) Linking ISSN: 07169760 NLM ISO Abbreviation: Biol Res Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40140957
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Arancibia+F%22">Arancibia F</searchLink>; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Martin+F%22">Martin F</searchLink>; Unidad Asesoramiento Genético Oncológico, Fundación Arturo López Pérez, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Ruiz-Fuentes+J%22">Ruiz-Fuentes J</searchLink>; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Diaz+E%22">Diaz E</searchLink>; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.; Center for Bioinformatics, Simulations and Modelling (CBSM), University of Talca, 3460000, Talca, Chile.<br /><searchLink fieldCode="AU" term="%22Hermosilla+T%22">Hermosilla T</searchLink>; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Gonzalez+W%22">Gonzalez W</searchLink>; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.; Center for Bioinformatics, Simulations and Modelling (CBSM), University of Talca, 3460000, Talca, Chile.<br /><searchLink fieldCode="AU" term="%22Simon+F%22">Simon F</searchLink>; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.; Laboratory of Integrative Physiopathology, Faculty of Life Sciences, Universidad Andres Bello, Santiago, Chile.; Millennium Institute On Immunology and Immunotherapy, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Avila-Jaque+D%22">Avila-Jaque D</searchLink>; Hospital San Juan de Dios, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Luna-Álvarez+M%22">Luna-Álvarez M</searchLink>; Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Dávila+Ortiz+de+Montellano+DJ%22">Dávila Ortiz de Montellano DJ</searchLink>; Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Miranda+M%22">Miranda M</searchLink>; Fundación Diagnosis, Santiago, Chile.; Clínica MEDS, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Bustamante+ML%22">Bustamante ML</searchLink>; Fundación Diagnosis, Santiago, Chile. mbustamante@uchile.cl.; Programa de Genética, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile. mbustamante@uchile.cl.<br /><searchLink fieldCode="AU" term="%22Varela+D%22">Varela D</searchLink>; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile. dvarela@uchile.cl.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile. dvarela@uchile.cl.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229308271%22">Biological research</searchLink> [Biol Res] 2025 Mar 26; Vol. 58 (1), pp. 18. <i>Date of Electronic Publication: </i>2025 Mar 26.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Biomed+Central%2C+Ltd%22">Biomed Central, Ltd </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9308271 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>0717-6287 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2207169760%22">07169760 </searchLink><i>NLM ISO Abbreviation: </i>Biol Res <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40140957
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s40659-025-00589-3
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 18
    Titles:
      – TitleFull: Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Arancibia F
      – PersonEntity:
          Name:
            NameFull: Martin F
      – PersonEntity:
          Name:
            NameFull: Ruiz-Fuentes J
      – PersonEntity:
          Name:
            NameFull: Diaz E
      – PersonEntity:
          Name:
            NameFull: Hermosilla T
      – PersonEntity:
          Name:
            NameFull: Gonzalez W
      – PersonEntity:
          Name:
            NameFull: Simon F
      – PersonEntity:
          Name:
            NameFull: Avila-Jaque D
      – PersonEntity:
          Name:
            NameFull: Luna-Álvarez M
      – PersonEntity:
          Name:
            NameFull: Dávila Ortiz de Montellano DJ
      – PersonEntity:
          Name:
            NameFull: Miranda M
      – PersonEntity:
          Name:
            NameFull: Bustamante ML
      – PersonEntity:
          Name:
            NameFull: Varela D
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 26
              M: 03
              Text: 2025 Mar 26
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 0717-6287
          Numbering:
            – Type: volume
              Value: 58
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Biological research
              Type: main
ResultId 1