Associated Papers
EFR3A, an Intriguing Gene, and Protein with a Scaffolding Function.
Trybus M et al.
Cells, 2025
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
Baskin JM et al.
Nature Cell Biology, 2016
Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy.
Torii T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum.
Miyamoto Y et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2014
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.
Ugur SA et al.
European Journal of Human Genetics : Ejhg, 2008
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Zara F et al.
Nature Genetics, 2006
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