We have examined the myotonin protein kinase (MT-PK) gene expression in different human brain areas. Four different spliced forms, comprising exons 13 and 14, were identified and characterized. One form (MYOT-A), lacking the entire exon 13, had not been detected in other studies and it is likely to be a brain-specific transcript. Different brain areas show a specific transcription pattern. These results suggest that MT-PK may have specialized functions in different areas of central nervous system. Alterations of this complex expression pattern could be responsible for the mental status impairment observed in myotonic dystrophy patients.

Different expression of the myotonin protein kinase gene in discrete areas of human brain / Gennarelli, M.; Lucarelli, Marco; Zelano, G.; Pizzuti, Antonio; Novelli, G.; Dallapiccola, B.. - In: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. - ISSN 0006-291X. - STAMPA. - 216:2(1995), pp. 489-494. [10.1006/bbrc.1995.2649]

Different expression of the myotonin protein kinase gene in discrete areas of human brain

LUCARELLI, Marco;PIZZUTI, Antonio;
1995

Abstract

We have examined the myotonin protein kinase (MT-PK) gene expression in different human brain areas. Four different spliced forms, comprising exons 13 and 14, were identified and characterized. One form (MYOT-A), lacking the entire exon 13, had not been detected in other studies and it is likely to be a brain-specific transcript. Different brain areas show a specific transcription pattern. These results suggest that MT-PK may have specialized functions in different areas of central nervous system. Alterations of this complex expression pattern could be responsible for the mental status impairment observed in myotonic dystrophy patients.
1995
myotonin; brain; myotonic dystrophy; spliced forms
01 Pubblicazione su rivista::01a Articolo in rivista
Different expression of the myotonin protein kinase gene in discrete areas of human brain / Gennarelli, M.; Lucarelli, Marco; Zelano, G.; Pizzuti, Antonio; Novelli, G.; Dallapiccola, B.. - In: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. - ISSN 0006-291X. - STAMPA. - 216:2(1995), pp. 489-494. [10.1006/bbrc.1995.2649]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/402943
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