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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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Main Authors: Jakab, Sevinç (Author) , Sakson, Roman (Author) , Hoffmann, Marcus (Author) , Grote, Valerian (Author) , Becker, Clara (Author) , Pakari, Kaisa (Author) , Beedgen, Lars (Author) , Thiel, Christian (Author) , Rapp, Erdmann (Author) , Ruppert, Thomas (Author) , Thumberger, Thomas (Author) , Wittbrodt, Joachim (Author)
Format: Article (Journal)
Language:English
Published: 09 June 2021
In: Development
Year: 2021, Volume: 148, Issue: 11, Pages: 1-16
ISSN:1477-9129
DOI:10.1242/dev.199385
Online Access: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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Author Notes: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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Summary: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.
Item Description:Gesehen am 25.06.2021
Physical Description:Online Resource
ISSN:1477-9129
DOI:10.1242/dev.199385

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