A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation
Defects in the evolutionarily conserved protein-glycosylation machinery during embryonic development are often fatal. Consequently, congenital disorders of glycosylation (CDG) in human are rare. We modelled a putative hypomorphic mutation described in an alpha-1,3/1,6-mannosyltransferase (ALG2) inde...
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| Hauptverfasser: | , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
09 June 2021
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| In: |
Development
Year: 2021, Jahrgang: 148, Heft: 11, Pages: 1-16 |
| ISSN: | 1477-9129 |
| DOI: | 10.1242/dev.199385 |
| Online-Zugang: | Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1242/dev.199385 Verlag, lizenzpflichtig, Volltext: https://journals.biologists.com/dev/article/148/11/dev199385/269015/A-patient-based-medaka-alg2-mutant-as-a-model-for 
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| Verfasserangaben: | Sevinç Gücüm, Roman Sakson, Marcus Hoffmann, Valerian Grote, Clara Becker, Kaisa Pakari, Lars Beedgen, Christian Thiel, Erdmann Rapp, Thomas Ruppert, Thomas Thumberger and Joachim Wittbrodt |
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| 520 | |a Defects in the evolutionarily conserved protein-glycosylation machinery during embryonic development are often fatal. Consequently, congenital disorders of glycosylation (CDG) in human are rare. We modelled a putative hypomorphic mutation described in an alpha-1,3/1,6-mannosyltransferase (ALG2) index patient (ALG2-CDG) to address the developmental consequences in the teleost medaka (Oryzias latipes). We observed specific, multisystemic, late-onset phenotypes, closely resembling the patient's syndrome, prominently in the facial skeleton and in neuronal tissue. | ||
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