McArdle's & Hers' diseases: glycogen phosphorylase transcriptional expression in human tissues.

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Citation

Gorin FA, Mullinax RL, Ignacio PC, Neve RL, Kurnit DM

McArdle's & Hers' diseases: glycogen phosphorylase transcriptional expression in human tissues.

J Neurogenet. 1987 Dec;4(6):293-308.

PubMed ID
3509980 [ View in PubMed
]
Abstract

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.

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Polypeptides
NameUniProt ID
Glycogen phosphorylase, liver formP06737Details