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Two new disorders of glycogen metabolism

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Title: Two new disorders of glycogen metabolism
Authors: Nilsson, Johanna
Issue Date: 8-Jan-2014
University: University of Gothenburg. Sahlgrenska Academy
Institution: Institute of Biomedicine. Department of Pathology
Parts of work: I. Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A, Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med. 2010 Apr 1;362(13):1203-10.

II. Nilsson J, Halim A, Moslemi AR, Pedersen A, Nilsson J, Larson G, Oldfors A, Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation. Biochim Biophys Acta. 2012 Apr;1822(4):493-9.

III. Nilsson J, Halim A, Larsson E, Moslemi AR, Oldfors A, Larson G, Nilsson J, LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences. Biochim Biophys Acta. 2013 Nov. [Epub ahead of print].

IV. Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, López MD, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A, Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol. 2013 Jun 24. [Epub ahead of print].

Date of Defence: 2014-01-29
Disputation: Onsdagen den 29 januari 2014, kl 13.00, Hörsal Arvid Carlsson, Academicum, Medicinaregatan 3
Degree: Doctor of Philosophy (Medicine)
Publication type: Doctoral thesis
Keywords: Glycogen
Glycogen storage disease
Mass spectrometry
Abstract: Glycogen is a polymer of glucose and serves as a source of rapidly available energy. Glycogen synthesis is initiated by autoglucosylation of glycogenin. Two glycogenin genes, GYG1 and GYG2, encode the two isoforms glycogenin-1 and -2, respectively. Glycogenin-1 is ubiquitously expressed whereas glycogenin-2 has been described as being expressed mainly in the liver but also in the heart. This thesis describes two new disorders affecting glycogen turnover. The first disease presented as sudden c... more
ISBN: 978-91-628-8854-1
Appears in Collections:Doctoral Theses from Sahlgrenska Academy
Doctoral Theses from University of Gothenburg / Doktorsavhandlingar från Göteborgs universitet
Doctoral Theses / Doktorsavhandlingar Institutionen för biomedicin



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