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
Transmembrane proteins with unknown function (TMEMs) as ion channels: electrophysiological properties, structure, and pathophysiological roles.
Kang H et al.
Experimental & Molecular Medicine, 2024
TMEM63 mechanosensitive ion channels: Activation mechanisms, biological functions and human genetic disorders.
Chen X et al.
Biochemical and Biophysical Research Communications, 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
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
Yan H et al.
Journal of Human Genetics, 2021
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Yan H et al.
American Journal of Human Genetics, 2019
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