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
Investigating ITM2B-associated ataxia in a Taiwanese cerebellar ataxia cohort.
Fang SY et al.
Annals of Clinical and Translational Neurology, 2025
Microglia contribute to the production of the amyloidogenic ABri peptide in familial British dementia.
Arber C et al.
Acta Neuropathologica, 2024
Clinical considerations in early-onset cerebral amyloid angiopathy.
Banerjee G et al.
Brain : a Journal of Neurology, 2023
Microglia produce the amyloidogenic ABri peptide in familial British dementia.
Arber C et al.
Biorxiv : the Preprint Server for Biology, 2023
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
DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.
Nassisi M et al.
Retina (philadelphia, Pa.), 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
Neurodegeneration caused by proteins with an aberrant carboxyl-terminus.
Vidal R et al.
Journal of Neuropathology and Experimental Neurology, 2004
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