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Article

3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.

Biochimica et biophysica acta - 1 Nov 2008

Carrière Cathelène, Jonic Slavica, Mornon Jean-Paul, Callebaut Isabelle

Abstract excerpt

Mutations in the liver isoform of the Phosphorylase Kinase (PhK) alpha subunit (PHKA2 gene) cause X-linked liver glycogenosis (XLG), the most frequent type of PhK deficiency (glycogen-storage disease type IX). XLG patients can be divided in two subgroups, with similar clinical features but differ...

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Identifiers

PMID: 18950708
DOI: 10.1016/j.bbadis.2008.09.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18950708-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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