Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1822, Issue 4, 2012, Pages 493-499

  Nilsson, Johanna ^a   Halim, Adnan ^a   Moslemi, Ali Reza ^a   Pedersen, Anders ^b   Nilsson, Jonas ^a   Larson, Göran ^a   Oldfors, Anders ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b Swedish NMR Centre   (Sweden)

Author keywords

Cell free expression; Glycogen; Glycogen storage disease; Glycogenin; Mass spectrometry

Indexed keywords

CARBON 14; GLUCOSE; GLYCOGENIN; GLYCOGENIN 1; THREONINE; TYROSINE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE;

AMINO ACID SUBSTITUTION; ARTICLE; CELL FREE SYSTEM; CONTROLLED STUDY; GLYCOGEN STORAGE DISEASE; GLYCOSYLATION; HUMAN; LIQUID CHROMATOGRAPHY; MOLECULAR PATHOLOGY; PRIORITY JOURNAL; PROTEIN CROSS LINKING; TANDEM MASS SPECTROMETRY; WESTERN BLOTTING;

AMINO ACID SEQUENCE; BASE SEQUENCE; BIOCATALYSIS; CELL-FREE SYSTEM; CHROMATOGRAPHY, GEL; CHROMATOGRAPHY, LIQUID; DNA PRIMERS; GLUCOSE; GLUCOSYLTRANSFERASES; GLYCOGEN; GLYCOPROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; TANDEM MASS SPECTROMETRY;

EID: 84856360261     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2011.11.017     Document Type: Article

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