Atlastine – wie defekte Netzwerke Neuropathien verursachen

Abstract

The Atlastins (ATLs) mesh the tubular net that constitutes the periph­eral parts of the endoplasmic reticulum (ER), the largest membranous organelle of the cell. ATLs form three way junctions, the knots of the ER network. Humans possess three ATLs, ATL1–3. Mutations in ATL1 and ATL3 can cause axonopathies in sensory or motor neurons, lead­ing to hereditary spastic paraplegia or hereditary sensory and auto­
nomous neuropathy. Here we discuss the knowns and unknows of ATL function in health and disease.

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