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L-glutamine activates CACNA1A. 6 / 6
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"SCA6 is caused by a pathogenic polyglutamine expansion that results in toxic aggregation of the mutant protein in cerebellar Purkinje cells [[42], [43], [44]]."
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"For instance, SCA6 is caused by polyglutamine expansions in the CACNA1A gene that encodes the alpha (2.1) subunit of CaV2.1 voltage-dependent P/Q-type calcium channel [38], while mutations of the protein kinase C gamma (PKC gamma) gene affect the C1 domain, essential for translocation and regulation of PKC gamma kinase activity [39]."
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"Nevertheless, this result is in agreement with the calcium influx reduction into Purkinje cells, induced by increasing polyglutamine expansions, which triggers neuronal death and cerebellar atrophy in[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"It is caused by a pathological expansion of the polyglutamine encoding CAG repeat in the CACNA1A gene on chromosome 19 3 and it is 100% penetrant."
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"While EA2 is associated with loss-of-function mutations, FHM1 is caused by gain-of-function mutations of the alpha subunit of the Cav 2.1 channel, while SCA6 is caused by a polyglutamine repeat expansion in the alpha subunit [1]."
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"SCA6 is caused by expansion of polyglutamine (polyQ)-encoding CAG trinucleotide repeat in CACNA1A , which encodes Cav2.1, α1A subunit of P/Q-type calcium channel ( Zhuchenko et al., 1997; Ishikawa et [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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