{"id":"https://openalex.org/W6920366199","doi":"https://doi.org/10.21203/rs.3.rs-3805874/v1","title":"Functional Characterization of a Novel Genetic Variant in Desmin (p.Glu353dup) Causing Myofibrillar Myopathy and Generation of Patient-Derived Induced Pluripotent Stem Cells for Disease Modeling","display_name":"Functional Characterization of a Novel Genetic Variant in Desmin (p.Glu353dup) Causing Myofibrillar Myopathy and Generation of Patient-Derived Induced Pluripotent Stem Cells for Disease Modeling","publication_year":2023,"publication_date":"2023-12-28","ids":{"openalex":"https://openalex.org/W6920366199","doi":"https://doi.org/10.21203/rs.3.rs-3805874/v1"},"language":"en","primary_location":{"id":"doi:10.21203/rs.3.rs-3805874/v1","doi":"https://doi.org/10.21203/rs.3.rs-3805874/v1","is_oa":true,"landing_page_url":"http://dx.doi.org/10.21203/rs.3.rs-3805874/v1","pdf_url":"https://www.researchsquare.com/article/rs-3805874/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},"volume":null,"type":"preprint","indexed_in":["crossref","datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.researchsquare.com/article/rs-3805874/latest.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5104134624","display_name":"Sheila Luc\u00eda Casta\u00f1eda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Sheila Casta\u00f1eda","raw_affiliation_strings":["Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I4210100158"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Guadalupe Amin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Guadalupe Amin","raw_affiliation_strings":["Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I4210100158"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Federico Zabalegui","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Federico Zabalegui","raw_affiliation_strings":["Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I4210100158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081738012","display_name":"Mar\u00eda In\u00e9s Freiberger","orcid":"https://orcid.org/0000-0002-5634-1897","observed_orcids":["https://orcid.org/0000-0002-5634-1897"]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I24354313","display_name":"Universidad de Buenos Aires","ror":"https://ror.org/0081fs513","country_code":"AR","type":"education","lineage":["https://openalex.org/I24354313"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Maria Ines Freiberger","raw_affiliation_strings":["Laboratorio de Fisiolog\u00eda de Prote\u00ednas, Departamento de Qu\u00edmica Biol\u00f3gica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires\u2013CONICET\u2013Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Fisiolog\u00eda de Prote\u00ednas, Departamento de Qu\u00edmica Biol\u00f3gica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires\u2013CONICET\u2013Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I24354313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011232698","display_name":"Carolina Belli","orcid":"https://orcid.org/0000-0001-5034-1055","observed_orcids":["https://orcid.org/0000-0001-5034-1055"]},"institutions":[{"id":"https://openalex.org/I14429277","display_name":"Academia Nacional de Medicina","ror":"https://ror.org/05k2xsz75","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I14429277"]},{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Carolina Belli","raw_affiliation_strings":["Instituto de Medicina Experimental (IMEX-CONICET), Academia Nacional de Medicina, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto de Medicina Experimental (IMEX-CONICET), Academia Nacional de Medicina, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I14429277","https://openalex.org/I151201029"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Sol Renes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Sol Renes","raw_affiliation_strings":["Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I4210100158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104221286","display_name":"Agata Fernandez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Agata Fernandez","raw_affiliation_strings":["Laboratorio de Biolog\u00eda Molecular, Departamento de Neuropatolog\u00eda, Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Biolog\u00eda Molecular, Departamento de Neuropatolog\u00eda, Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Buenos Aires, Argentina","institution_ids":["https://openalex.org/I4210100158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5121722645","display_name":"Alberto Luis Rosa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I166401450","display_name":"Universidad Nacional de C\u00f3rdoba","ror":"https://ror.org/056tb7j80","country_code":"AR","type":"education","lineage":["https://openalex.org/I166401450"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Alberto Luis Rosa","raw_affiliation_strings":["Laboratorio de Gen\u00e9tica y Biolog\u00eda Molecular, IFEC-CONICET, Facultad de Ciencias Qu\u00edmicas, Universidad Nacional de C\u00f3rdoba, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Gen\u00e9tica y Biolog\u00eda Molecular, IFEC-CONICET, Facultad de Ciencias Qu\u00edmicas, Universidad Nacional de C\u00f3rdoba, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I166401450"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Claudia Cejas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Claudia Cejas","raw_affiliation_strings":["Departamento de Diagn\u00f3stico por Im\u00e1genes, Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Diagn\u00f3stico por Im\u00e1genes, Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Buenos Aires, Argentina","institution_ids":["https://openalex.org/I4210100158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078907772","display_name":"Jos\u00e9 Manuel Pastor Rueda","orcid":"https://orcid.org/0000-0003-3079-254X","observed_orcids":["https://orcid.org/0000-0003-3079-254X"]},"institutions":[{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Manuel Pastor Rueda","raw_affiliation_strings":["Departamento de Neurolog\u00eda, Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Neurolog\u00eda, Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Buenos Aires, Argentina","institution_ids":["https://openalex.org/I4210100158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013457849","display_name":"Ariel Waisman","orcid":"https://orcid.org/0000-0002-6860-9512","observed_orcids":["https://orcid.org/0000-0002-6860-9512"]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Ariel Waisman","raw_affiliation_strings":["Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I4210100158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026249041","display_name":"Diego Ulises Ferreiro","orcid":"https://orcid.org/0000-0002-7869-4247","observed_orcids":["https://orcid.org/0000-0002-7869-4247"]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I24354313","display_name":"Universidad de Buenos Aires","ror":"https://ror.org/0081fs513","country_code":"AR","type":"education","lineage":["https://openalex.org/I24354313"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Diego U. Ferreiro","raw_affiliation_strings":["Laboratorio de Fisiolog\u00eda de Prote\u00ednas, Departamento de Qu\u00edmica Biol\u00f3gica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires\u2013CONICET\u2013Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Fisiolog\u00eda de Prote\u00ednas, Departamento de Qu\u00edmica Biol\u00f3gica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires\u2013CONICET\u2013Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I24354313"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Gustavo Sevlever","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Gustavo Sevlever","raw_affiliation_strings":["Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I4210100158"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Santiago Miriuka","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Santiago Miriuka","raw_affiliation_strings":["Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I4210100158"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5048617242","display_name":"Lucia Natalia Moro","orcid":"https://orcid.org/0000-0002-6017-1181","observed_orcids":["https://orcid.org/0000-0002-6017-1181"]},"institutions":[{"id":"https://openalex.org/I151201029","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59","country_code":"AR","type":"government","lineage":["https://openalex.org/I151201029","https://openalex.org/I4210123736","https://openalex.org/I4387155568"]},{"id":"https://openalex.org/I4210100158","display_name":"Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia","ror":"https://ror.org/0145s0423","country_code":"AR","type":"nonprofit","lineage":["https://openalex.org/I4210100158"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Lucia Natalia Moro","raw_affiliation_strings":["Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Investigaci\u00f3n Aplicada a Neurociencias (LIAN), Fundaci\u00f3n para la Lucha contra las Enfermedades Neurol\u00f3gicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Bel\u00e9n de Escobar, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I151201029","https://openalex.org/I4210100158"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":true,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.725600004196167,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.725600004196167,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":0.20020000636577606,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.023800000548362732,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/desminopathy","display_name":"desminopathy","score":0.8830000162124634},{"id":"https://openalex.org/keywords/myofibrillar-myopathy","display_name":"myofibrillar myopathy","score":0.996999979019165},{"id":"https://openalex.org/keywords/desmin","display_name":"desmin","score":0.9459999799728394},{"id":"https://openalex.org/keywords/novel-genetic-variants","display_name":"novel genetic variants","score":0.6449999809265137},{"id":"https://openalex.org/keywords/induced-pluripotent-stem-cells","display_name":"induced pluripotent stem cells","score":0.8119999766349792},{"id":"https://openalex.org/keywords/disease-modeling","display_name":"disease modeling","score":0.8930000066757202},{"id":"https://openalex.org/keywords/crispr-gene-editing","display_name":"CRISPR gene editing","score":0.6949999928474426},{"id":"https://openalex.org/keywords/coiled-coil-structure","display_name":"coiled-coil structure","score":0.9580000042915344},{"id":"https://openalex.org/keywords/muscle-weakness","display_name":"muscle weakness","score":0.3720000088214874},{"id":"https://openalex.org/keywords/muscle-atrophy","display_name":"muscle atrophy","score":0.5220000147819519},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"precision medicine","score":0.47699999809265137}],"concepts":[{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.7353000044822693},{"id":"https://openalex.org/C2779072444","wikidata":"https://www.wikidata.org/wiki/Q425146","display_name":"Desmin","level":4,"score":0.692300021648407},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5616999864578247},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5060999989509583},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.46470001339912415},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.45879998803138733},{"id":"https://openalex.org/C174510640","wikidata":"https://www.wikidata.org/wiki/Q489618","display_name":"HEK 293 cells","level":3,"score":0.43540000915527344},{"id":"https://openalex.org/C7301908","wikidata":"https://www.wikidata.org/wiki/Q318623","display_name":"Myofibril","level":2,"score":0.4203000068664551},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.40790000557899475},{"id":"https://openalex.org/C78383274","wikidata":"https://www.wikidata.org/wiki/Q421987","display_name":"Intermediate filament","level":4,"score":0.3921000063419342},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3919999897480011},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.3702000081539154},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3644999861717224},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.3443000018596649},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.31839999556541443},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.295199990272522},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.2775999903678894},{"id":"https://openalex.org/C2779438767","wikidata":"https://www.wikidata.org/wiki/Q112412","display_name":"Congenital myopathy","level":4,"score":0.2678999900817871},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2630999982357025},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.2628999948501587},{"id":"https://openalex.org/C68731436","wikidata":"https://www.wikidata.org/wiki/Q1337087","display_name":"Sarcomere","level":3,"score":0.2551000118255615},{"id":"https://openalex.org/C198826908","wikidata":"https://www.wikidata.org/wiki/Q1922379","display_name":"Mesenchymal stem cell","level":2,"score":0.25220000743865967}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.21203/rs.3.rs-3805874/v1","doi":"https://doi.org/10.21203/rs.3.rs-3805874/v1","is_oa":true,"landing_page_url":"http://dx.doi.org/10.21203/rs.3.rs-3805874/v1","pdf_url":"https://www.researchsquare.com/article/rs-3805874/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},{"id":"doi:10.60692/7ab6d-hwg38","doi":"https://doi.org/10.60692/7ab6d-hwg38","is_oa":true,"landing_page_url":"https://doi.org/10.60692/7ab6d-hwg38","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"},{"id":"doi:10.60692/n40fw-rd090","doi":"https://doi.org/10.60692/n40fw-rd090","is_oa":true,"landing_page_url":"https://doi.org/10.60692/n40fw-rd090","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"}],"best_oa_location":{"id":"doi:10.21203/rs.3.rs-3805874/v1","doi":"https://doi.org/10.21203/rs.3.rs-3805874/v1","is_oa":true,"landing_page_url":"http://dx.doi.org/10.21203/rs.3.rs-3805874/v1","pdf_url":"https://www.researchsquare.com/article/rs-3805874/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G3288153994","display_name":null,"funder_award_id":"PICT-2018","funder_id":"https://openalex.org/F4320337954","funder_display_name":"Fondo para la Investigaci\u00f3n Cient\u00edfica y Tecnol\u00f3gica"}],"funders":[{"id":"https://openalex.org/F4320312064","display_name":"Universidad Nacional de C\u00f3rdoba","ror":"https://ror.org/056tb7j80"},{"id":"https://openalex.org/F4320321664","display_name":"Ministerio de Ciencia, Tecnolog\u00eda e Innovaci\u00f3n Productiva","ror":"https://ror.org/02h503d38"},{"id":"https://openalex.org/F4320329709","display_name":"Fleni","ror":"https://ror.org/0145s0423"},{"id":"https://openalex.org/F4320332524","display_name":"Gillings School of Public Health","ror":"https://ror.org/0130frc33"},{"id":"https://openalex.org/F4320337954","display_name":"Fondo para la Investigaci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","ror":"https://ror.org/03stxzb56"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W6920366199.pdf","grobid_xml":"https://content.openalex.org/works/W6920366199.grobid-xml"},"referenced_works_count":61,"referenced_works":["https://openalex.org/W1539636383","https://openalex.org/W1966730667","https://openalex.org/W1982359145","https://openalex.org/W1991194470","https://openalex.org/W1992898397","https://openalex.org/W1995336211","https://openalex.org/W1998405912","https://openalex.org/W2012304327","https://openalex.org/W2019000267","https://openalex.org/W2021341670","https://openalex.org/W2022402563","https://openalex.org/W2023166695","https://openalex.org/W2035771990","https://openalex.org/W2037839226","https://openalex.org/W2038815755","https://openalex.org/W2039107218","https://openalex.org/W2051978340","https://openalex.org/W2062332518","https://openalex.org/W2066640119","https://openalex.org/W2067896405","https://openalex.org/W2068230070","https://openalex.org/W2081470032","https://openalex.org/W2082370159","https://openalex.org/W2083599207","https://openalex.org/W2086000941","https://openalex.org/W2094607348","https://openalex.org/W2100139545","https://openalex.org/W2106578986","https://openalex.org/W2108992451","https://openalex.org/W2116695601","https://openalex.org/W2120498003","https://openalex.org/W2122412289","https://openalex.org/W2142353117","https://openalex.org/W2149390929","https://openalex.org/W2149551991","https://openalex.org/W2152275620","https://openalex.org/W2287366097","https://openalex.org/W2517568305","https://openalex.org/W2542536861","https://openalex.org/W2607635479","https://openalex.org/W2748611196","https://openalex.org/W2762365522","https://openalex.org/W2804741252","https://openalex.org/W2902945752","https://openalex.org/W2906991869","https://openalex.org/W2913365007","https://openalex.org/W2943756611","https://openalex.org/W3023784652","https://openalex.org/W3084296280","https://openalex.org/W3128789377","https://openalex.org/W3133756645","https://openalex.org/W3154732019","https://openalex.org/W3167536775","https://openalex.org/W3177828909","https://openalex.org/W3193037039","https://openalex.org/W3197054512","https://openalex.org/W4200288813","https://openalex.org/W4220680064","https://openalex.org/W4381989013","https://openalex.org/W6600805005","https://openalex.org/W6695388291"],"related_works":["https://openalex.org/W7117870370","https://openalex.org/W2035955019","https://openalex.org/W7140327495","https://openalex.org/W4391642321","https://openalex.org/W2077190777","https://openalex.org/W4376150246","https://openalex.org/W2776247416","https://openalex.org/W2104990071","https://openalex.org/W4393047801","https://openalex.org/W2035771990"],"abstract_inverted_index":{"Abstract":[0],"Desmin":[1],"(DES)":[2],"is":[3],"a":[4,39,63,110,160,189,238],"major":[5],"intermediate":[6],"filament":[7],"protein":[8,128],"crucial":[9],"for":[10,261],"the":[11,60,72,80,106,121,133,157,171,183,196,209,217,227,230,253],"structural":[12],"integrity":[13],"and":[14,76,93,109,125,143,188,208,247,257,264],"function":[15],"of":[16,28,47,62,71,79,86,99,135,159,201,229,233,244,255],"striated":[17],"muscles.":[18],"Mutations":[19],"in":[20,44,49,105,132],"DES":[21,48,73,100,124,147,162,240],"have":[22],"been":[23],"associated":[24],"with":[25,53],"various":[26],"forms":[27],"myopathies":[29],"collectively":[30],"known":[31],"as":[32],"\"desminopathy.\"":[33],"In":[34,221],"this":[35],"study,":[36],"we":[37],"identified":[38],"novel":[40,239],"heterozygous":[41],"mutation":[42,57,155],"(c.1059_1061dupGGA)":[43],"exon":[45],"6":[46],"an":[50],"Argentine":[51],"family":[52],"myofibrillar":[54,87,234],"myopathy.":[55],"This":[56],"leads":[58],"to":[59,211,226],"duplication":[61],"glutamic":[64],"acid":[65],"residue":[66],"at":[67],"position":[68],"353":[69],"(p.Glu353dup)":[70],"protein.":[74],"Clinical":[75],"myo-pathological":[77],"evaluations":[78],"index":[81,184,197],"patient":[82,198],"revealed":[83,103],"characteristic":[84],"features":[85],"myopathy,":[88],"including":[89],"muscle":[90,94],"weakness,":[91],"atrophy,":[92],"fatty":[95],"replacement.":[96],"In-silico":[97],"analyses":[98],"dimer":[101],"assembly":[102],"alterations":[104],"coiled-coil":[107],"structure":[108],"more":[111],"stable":[112],"complex":[113],"conformation":[114],"when":[115,139,145],"one":[116],"or":[117],"both":[118],"monomers":[119],"contain":[120],"mutation.":[122,241],"Moreover,":[123],"vimentin":[126],"(VIM)":[127],"aggregates":[129],"were":[130,180],"observed":[131],"membrane":[134],"HEK":[136],"cells":[137,178],"only":[138],"DES_dupGGA":[140,191],"was":[141,148],"overexpressed":[142],"not":[144],"wild-type":[146],"overexpressed.":[149],"Both":[150],"results":[151],"suggest":[152],"that":[153],"p.Glu353dup":[154],"impairs":[156],"formation":[158],"normal":[161,205],"network":[163],"after":[164],"affecting":[165],"its":[166],"polymerization.":[167],"To":[168],"further":[169],"investigate":[170],"disease":[172],"mechanisms,":[173],"patient-derived":[174],"induced":[175],"pluripotent":[176],"stem":[177],"(iPSCs)":[179],"generated":[181],"from":[182,195],"patient,":[185],"his":[186],"siblings,":[187],"CRISPR-edited":[190],"homozygous":[192],"variant":[193],"derived":[194],"iPSCs.":[199],"Characterization":[200],"these":[202],"iPSCs":[203],"demonstrated":[204],"pluripotency,":[206],"karyotype":[207],"ability":[210],"differentiate":[212],"into":[213,252],"cell":[214],"types":[215],"representing":[216],"three":[218],"germ":[219],"layers.":[220],"summary,":[222],"our":[223],"study":[224],"contributes":[225],"understanding":[228],"molecular":[231],"basis":[232],"myopathy":[235],"caused":[236],"by":[237],"The":[242],"combination":[243],"clinical,":[245],"molecular,":[246],"iPSC-based":[248],"approaches":[249],"offers":[250],"insights":[251],"pathogenesis":[254],"desminopathies":[256],"opens":[258],"new":[259],"possibilities":[260],"therapeutic":[262],"development":[263],"precision":[265],"medicine":[266],"strategies.":[267]},"counts_by_year":[{"year":2025,"cited_by_count":2}],"updated_date":"2026-10-15T10:00:46.086208","created_date":"2025-10-10T00:00:00"}