Associated Papers
Massive mutagenesis reveals an incomplete amyloid motif in Bri2 that turns amyloidogenic upon C-terminal extension.
Martín M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia.
Rhyu JM et al.
Journal of Alzheimer's Disease : Jad, 2023
A Novel ITM2B Mutation Associated with Familial Chinese Dementia.
Liu X et al.
Journal of Alzheimer's Disease : Jad, 2021
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Audo I et al.
Human Molecular Genetics, 2014
Chromosome 13 dementia syndromes as models of neurodegeneration.
Ghiso J et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2001
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