Associated Papers
Structural and functional basis of mechanosensitive TMEM63 channelopathies.
Zheng W et al.
Neuron, 2025
TMEM63A, associated with hypomyelinating leukodystrophies, is an evolutionarily conserved regulator of myelination.
Halford J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis.
Yoneno S et al.
Journal of Human Genetics, 2024
TMEM63 mechanosensitive ion channels: Activation mechanisms, biological functions and human genetic disorders.
Chen X et al.
Biochemical and Biophysical Research Communications, 2023
TMEM63 proteins function as monomeric high-threshold mechanosensitive ion channels.
Zheng W et al.
Neuron, 2023
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
Tonduti D et al.
Journal of Human Genetics, 2021
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