Common Pathway Malfunction Found to Underlie CMT Subtypes 1C, 4J

Common Pathway Malfunction Found to Underlie CMT Subtypes 1C, 4J

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Common Pathway Malfunction Found to Underlie CMT Subtypes 1C, 4J

A common pathway malfunction was found to underlie Charcot–Marie–Tooth (CMT) disease subtypes 1C and 4J, despite different disease-causing mutations, a cell-based study has discovered.  Researchers showed that when cells carrying different CMT-linked mutations were treated with a certain single small molecule, disease-related processes were reduced in both subtypes. These findings support the development of therapies to treat more than one CMT subtype. The study, “A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth…

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