1982
DOI: 10.1016/0006-2944(82)90058-8
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Glycogen branching enzyme in Lafora myoclonus epilepsy

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Cited by 17 publications
(8 citation statements)
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“…Zimmerman and Gold 32 detected increased levels of GBE activity in cerebral cortex of a Lafora patient; the protein had slightly different electrophoretic properties compared with the GBE from normal brain. 32 The recently identified gene that is mutated in patients with the disorder encodes a protein (laforin), which has the consensus motif indicative of protein tyrosine phosphatase and additionally has matches with the sequence signature for dual-specificity phosphatases that are capable of dephosphorylating serine and threonine residues of target proteins in addition to tyrosine. 4,[33][34][35] Even if the encoded protein actually functions as a dual-specificity phosphatase as predicted from its sequence, GSase is an unlikely direct target of the laforin.…”
Section: Resultsmentioning
confidence: 99%
“…Zimmerman and Gold 32 detected increased levels of GBE activity in cerebral cortex of a Lafora patient; the protein had slightly different electrophoretic properties compared with the GBE from normal brain. 32 The recently identified gene that is mutated in patients with the disorder encodes a protein (laforin), which has the consensus motif indicative of protein tyrosine phosphatase and additionally has matches with the sequence signature for dual-specificity phosphatases that are capable of dephosphorylating serine and threonine residues of target proteins in addition to tyrosine. 4,[33][34][35] Even if the encoded protein actually functions as a dual-specificity phosphatase as predicted from its sequence, GSase is an unlikely direct target of the laforin.…”
Section: Resultsmentioning
confidence: 99%
“…Humans have a single BE gene, GBE1 , expressed ubiquitously. BE activity is normal in LD 7. This, along with the fact that BE deficiency causes type IV glycogenosis and not LD, rules out decreased branching enzyme activity as the mechanism of polyglucosan generation in LD.…”
mentioning
confidence: 85%
“…For example, Guerra et al (5) recently reported an 8-year-old patient with a late onset of symptoms (at 5 years of age) with slow progression during the succeeding 3 years. Others have reported long survivals in children (2, 6), and there are other reports of adult onset myopathy characteristic of Type IV glycogenosis but without evidence of liver disease (7)(8)(9).…”
mentioning
confidence: 99%