Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs.

Lucchino, Valeria; Scaramuzzino, Luana; Scalise, Stefania; Lo Conte, Michela; Zannino, Clara; Benedetto, Giorgia Lucia; Aguglia, Umberto; Ferlazzo, Edoardo; Cuda, Giovanni; Parrotta, Elvira Immacolata

Lucchino, Valeria; Scaramuzzino, Luana; Scalise, Stefania; Lo Conte, Michela; Zannino, Clara; Benedetto, Giorgia Lucia; Aguglia, Umberto; Ferlazzo, Edoardo; Cuda, Giovanni; Parrotta, Elvira Immacolata.

Afiliação

Lucchino V; Department of Experimental and Clinical Medicine, University Magna Graecia, 88100 Catanzaro, Italy.
Scaramuzzino L; Department of Experimental and Clinical Medicine, University Magna Graecia, 88100 Catanzaro, Italy.
Scalise S; Department of Experimental and Clinical Medicine, University Magna Graecia, 88100 Catanzaro, Italy.
Lo Conte M; Department of Experimental and Clinical Medicine, University Magna Graecia, 88100 Catanzaro, Italy.
Zannino C; Department of Experimental and Clinical Medicine, University Magna Graecia, 88100 Catanzaro, Italy.
Benedetto GL; Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.
Aguglia U; Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.
Ferlazzo E; Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.
Cuda G; Department of Experimental and Clinical Medicine, University Magna Graecia, 88100 Catanzaro, Italy.
Parrotta EI; Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.

Cells ; 11(21)2022 11 04.

Article em En | MEDLINE | ID: mdl-36359887

Assuntos

Síndrome de Unverricht-Lundborg; Humanos; Síndrome de Unverricht-Lundborg/genética; Cistatina B/genética; Irmãos; Perfil Genético; Catepsinas/genética

Palavras-chave

EPM1; Unverricht-Lundborg disease; cystatin B; disease model; human induced pluripotent stem cells; iPSCs-derived neurons

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Unverricht-Lundborg Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Unverricht-Lundborg Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article