Article

Defining and rescuing pathomechanisms of myotubularin and autophagy disruption in a novel human cell model of Charcot-Marie-Tooth Type 4B3

2026-02-05

Abstract excerpt

<h4>ABSTRACT</h4> Charcot-Marie-Tooth Type 4B3 (CMT4B3) is a genetic disorder leading to peripheral axon degeneration and clinical manifestations of distal weakness and gait impairment. CMT4B3 is caused by mutations in SBF1 /MTMR5, a negative regulator of phosphoinositide signaling and autophagy. Although SBF1 mutations are ubiquitously expressed, how and why loss of SBF1 /MTMR5 exerts deleterious effects pred...

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Literature Corpus work: ac5776a6-1b3f-5d30-82eb-75acb4bdd554
DOI: 10.64898/2026.02.03.703518

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