A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.

Gücüm, Sevinç; Sakson, Roman; Hoffmann, Marcus; Grote, Valerian; Becker, Clara; Pakari, Kaisa; Beedgen, Lars; Thiel, Christian; Rapp, Erdmann; Ruppert, Thomas; Thumberger, Thomas; Wittbrodt, Joachim

Gücüm, Sevinç; Sakson, Roman; Hoffmann, Marcus; Grote, Valerian; Becker, Clara; Pakari, Kaisa; Beedgen, Lars; Thiel, Christian; Rapp, Erdmann; Ruppert, Thomas; Thumberger, Thomas; Wittbrodt, Joachim.

Afiliação

Gücüm S; COS, Centre for Organismal Studies Heidelberg, Heidelberg University, 69120 Heidelberg, Germany.
Sakson R; HBIGS, Heidelberg Biosciences International Graduate School, Heidelberg University, 69120 Heidelberg, Germany.
Hoffmann M; HBIGS, Heidelberg Biosciences International Graduate School, Heidelberg University, 69120 Heidelberg, Germany.
Grote V; Core facility for Mass Spectrometry and Proteomics, Zentrum für Molekulare Biologie der Universität Heidelberg (ZMBH), DKFZ-ZMBH Alliance, 69120 Heidelberg, Germany.
Becker C; Max Planck Institute for Dynamics of Complex Technical Systems, 39106 Magdeburg, Germany.
Pakari K; Max Planck Institute for Dynamics of Complex Technical Systems, 39106 Magdeburg, Germany.
Beedgen L; COS, Centre for Organismal Studies Heidelberg, Heidelberg University, 69120 Heidelberg, Germany.
Thiel C; COS, Centre for Organismal Studies Heidelberg, Heidelberg University, 69120 Heidelberg, Germany.
Rapp E; Center for Child and Adolescent Medicine, Department Pediatrics I, Heidelberg University, 69120 Heidelberg, Germany.
Ruppert T; Center for Child and Adolescent Medicine, Department Pediatrics I, Heidelberg University, 69120 Heidelberg, Germany.
Thumberger T; Max Planck Institute for Dynamics of Complex Technical Systems, 39106 Magdeburg, Germany.
Wittbrodt J; glyXera GmbH, 39120 Magdeburg, Germany.

Development ; 148(11)2021 06 01.

Article em En | MEDLINE | ID: mdl-34106226

Assuntos

Manosiltransferases/genética; Manosiltransferases/metabolismo; Oryzias/genética; Oryzias/metabolismo; Animais; Defeitos Congênitos da Glicosilação/genética; Defeitos Congênitos da Glicosilação/metabolismo; Modelos Animais de Doenças; Fibroblastos/metabolismo; Glicoproteínas/genética; Glicoproteínas/metabolismo; Glicosilação; Humanos; Mutação; Fenótipo; Polissacarídeos; Retinose Pigmentar

Palavras-chave

CDG; Disease model; Glycosylation; Human hypomorphic mutations; Medaka; Retinitis pigmentosa

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oryzias / Manosiltransferases Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oryzias / Manosiltransferases Idioma: En Ano de publicação: 2021 Tipo de documento: Article