Research Article
Open Access
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders
View ORCID ProfileRosario Francisco-Velilla, View ORCID ProfileAzman Embarc-Buh, View ORCID ProfileFrancisco del Caño-Ochoa, Salvador Abellan, View ORCID ProfileMarçal Vilar, Sara Alvarez, View ORCID ProfileAlberto Fernandez-Jaen, Sukhleen Kour, View ORCID ProfileDeepa S Rajan, Udai Bhan Pandey, View ORCID ProfileSantiago Ramón-Maiques, View ORCID ProfileEncarnacion Martinez-Salas Correspondence email
Rosario Francisco-Velilla
1Centro de Biología Molecular Severo Ochoa (CBMSO), Consejo Superior de Investigaciones Cientificas - Universidad Autónoma de Madrid (CSIC-UAM), Madrid, Spain
Roles: Conceptualization, Data curation, Formal analysis, Investigation, Writing—original draft
Azman Embarc-Buh
1Centro de Biología Molecular Severo Ochoa (CBMSO), Consejo Superior de Investigaciones Cientificas - Universidad Autónoma de Madrid (CSIC-UAM), Madrid, Spain
Roles: Data curation, Formal analysis, Investigation
Francisco del Caño-Ochoa
2Instituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain
3Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
Roles: Formal analysis and investigation
Salvador Abellan
1Centro de Biología Molecular Severo Ochoa (CBMSO), Consejo Superior de Investigaciones Cientificas - Universidad Autónoma de Madrid (CSIC-UAM), Madrid, Spain
Roles: Investigation
Marçal Vilar
2Instituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain
Roles: Formal analysis and investigation
Sara Alvarez
4New Integrated Medical Genetics (NIMGENETICS), Madrid, Spain
Roles: Data curation, Formal analysis, Investigation
Alberto Fernandez-Jaen
5Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain
6School of Medicine, Universidad Europea de Madrid, Madrid, Spain
Roles: Conceptualization, Data curation, Formal analysis, Investigation
Sukhleen Kour
7Department of Pediatrics, Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
Roles: Investigation
Deepa S Rajan
7Department of Pediatrics, Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
Udai Bhan Pandey
7Department of Pediatrics, Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
Roles: Conceptualization, Formal analysis, Supervision, Investigation, Writing—review and editing
Santiago Ramón-Maiques
2Instituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain
3Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
Roles: Data curation, Formal analysis, Supervision, Investigation, Writing—original draft
Encarnacion Martinez-Salas
1Centro de Biología Molecular Severo Ochoa (CBMSO), Consejo Superior de Investigaciones Cientificas - Universidad Autónoma de Madrid (CSIC-UAM), Madrid, Spain
Roles: Conceptualization, Data curation, Formal analysis, Supervision, Funding acquisition, Investigation, Writing—original draft, review, and editing
Published 7 April 2022. DOI: 10.26508/lsa.202201403
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Gemin5 pathogenic deficiencies
Rosario Francisco-Velilla, Azman Embarc-Buh, Francisco del Caño-Ochoa, Salvador Abellan, Marçal Vilar, Sara Alvarez, Alberto Fernandez-Jaen, Sukhleen Kour, Deepa S Rajan, Udai Bhan Pandey, Santiago Ramón-Maiques, Encarnacion Martinez-Salas
Life Science Alliance Apr 2022, 5 (7) e202201403; DOI: 10.26508/lsa.202201403
Gemin5 pathogenic deficiencies
Rosario Francisco-Velilla, Azman Embarc-Buh, Francisco del Caño-Ochoa, Salvador Abellan, Marçal Vilar, Sara Alvarez, Alberto Fernandez-Jaen, Sukhleen Kour, Deepa S Rajan, Udai Bhan Pandey, Santiago Ramón-Maiques, Encarnacion Martinez-Salas
Life Science Alliance Apr 2022, 5 (7) e202201403; DOI: 10.26508/lsa.202201403
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Volume 5, No. 7
July 2022
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