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A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity.
Stringer, Robin N; Jurkovicova-Tarabova, Bohumila; Huang, Sun; Haji-Ghassemi, Omid; Idoux, Romane; Liashenko, Anna; Souza, Ivana A; Rzhepetskyy, Yuriy; Lacinova, Lubica; Van Petegem, Filip; Zamponi, Gerald W; Pamphlett, Roger; Weiss, Norbert.
Afiliación
  • Stringer RN; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic.
  • Jurkovicova-Tarabova B; Third Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Huang S; Center of Biosciences, Institute of Molecular Physiology and Genetics, Academy of Sciences, Bratislava, Slovakia.
  • Haji-Ghassemi O; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada.
  • Idoux R; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada.
  • Liashenko A; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic.
  • Souza IA; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic.
  • Rzhepetskyy Y; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada.
  • Lacinova L; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic.
  • Van Petegem F; Center of Biosciences, Institute of Molecular Physiology and Genetics, Academy of Sciences, Bratislava, Slovakia.
  • Zamponi GW; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada.
  • Pamphlett R; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada.
  • Weiss N; Discipline of Pathology, Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.
Mol Brain ; 13(1): 33, 2020 03 06.
Article en En | MEDLINE | ID: mdl-32143681
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Canales de Calcio Tipo T / Estudios de Asociación Genética / Esclerosis Amiotrófica Lateral / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals Idioma: En Revista: Mol Brain Asunto de la revista: BIOLOGIA MOLECULAR / CEREBRO Año: 2020 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Canales de Calcio Tipo T / Estudios de Asociación Genética / Esclerosis Amiotrófica Lateral / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals Idioma: En Revista: Mol Brain Asunto de la revista: BIOLOGIA MOLECULAR / CEREBRO Año: 2020 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Reino Unido