Litaf regulates Wallerian degeneration after nerve injury but is not essential for peripheral nerve development & dynamin 2 ablation in adult Schwann cells affects the integrity of peripheral nerves [thesis]

Christian Somandin, Roman Chrast, Ueli Suter
Peripheral neuropathies are often disabling conditions that substantially impair quality of life. The reasons for the loss of axons or the myelin sheath can be manifold, comprising metabolic and toxic insults, inflammatory conditions or gene mutations. Charcot-Marie-Tooth neuropathy (CMT) is the most prevalent inherited neurological disorder, affecting the human peripheral nervous system. Distal muscle weakness and atrophy, predominating in the lower extremities, diminished or absent deep
more » ... reflexes, distal sensory loss and skeletal deformities are the clinical hallmarks of this disorder. More than thirty genes have been identified to display disease-causing mutations. Heterozygous missense mutations in the LITAF gene lead to CMT1C, a dominantly inherited, demyelinating form of CMT. In this study, we sought to determine the requirement of Litaf function in
doi:10.3929/ethz-a-009759355 fatcat:xsrjkvz7andhtmkkkeszbe6rcm