IndraLab

Statements

Mutated MATN3 activates SCN8A. 3 / 3
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"Previous studies have shown that the mechanism leading to MED caused by matrilin-3 mutations involves the induction of a UPR and dysregulated apoptosis."
24046357
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"In summary, MED is caused by a defect in the trafficking and secretion of mutant matrilin-3 that causes ER stress and a UPR in the post-natal period."
20428984
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"This is a similar finding to that seen in MED caused by MATN3 mutations [Jackson et al., XREF_BIBR; Makitie et al., XREF_BIBR] and it is interesting to speculate that the genetic modifiers of phenotypic severity may be common across the spectrum of the pseudoachondroplasia MED (PSACH MED) bone dysplasia family, regardless of which gene the causative mutation resides in."
20358595