IndraLab

Statements

MATN3-V194D activates SCN8A. 4 / 4
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"Although intracellular retention of the majority of mutant matrilin 3 was previously observed in a murine model of MED caused by a Matn3 V194D mutation, some mutant protein was secreted into the extracellular matrix."
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"This distinctive finding was recently verified in a murine model of MED caused by a Matn3 V194D mutation, which replicated the human phenotype by exhibiting mild short limbed dwarfism."
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"Armet and Creld2 are up-regulated in cell and murine models of MED caused by matrilin-3 V194D."
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"We previously showed that reduced chondrocyte proliferation in the growth plate was a key disease mechanism in a murine model of MED caused by a Matn3 V194D mutation."
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