Associated Papers
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
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
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
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A et al.
American Journal of Human Genetics, 2023
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay.
Fukumura S et al.
Brain & Development, 2022
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