Mcardle's & hers' diseases: Glycogen phosphorylase transcriptional expression in human tissues

Fredric A Gorin, Rebecca L. Mullinax, Pamela C. Ignacio, Rachael L. Neve, David M. Kurnit

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


We have cloned the cDNA encoding human liver glycogen phosphorylase (glycogenosis type VI) from a fetal brain cDNA library. Liver (L) and muscle (M) phosphorylase cDNA probes were used to determine the relative abundance of mRNA encoding the L- and M-isozymes of phosphorylase in human fetal and adult tissues. The transcript encoding the M-isozyme is 3.4 kb; the L-isozyme transcript is 3.3 kb. Transcriptional expression of the L-isozyme in human and primate tissues was found to differ from the isozyme's reported tissue specificity in non-primate mammals. Furthermore, using degenerate oligonucleotide probes to two different coding regions of M-phosphorylase, a novel 4.1-kb transcript was demonstrated to be present in human fetal and adult brain.

Original languageEnglish (US)
Pages (from-to)293-308
Number of pages16
JournalJournal of Neurogenetics
Issue number1
StatePublished - 1987


  • Glycogen phosphorylase isozyme
  • Hers' disease
  • Human and primate tissues
  • McArdle's disease
  • Transcriptional expression

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience
  • Genetics
  • Developmental Biology
  • Neuroscience(all)


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