TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.

doi:10.1126/scitranslmed.adf9735

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TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.

Science translational medicine - 17 Jan 2024

Marks Jordan D, Ayuso Virginia Estades, Carlomagno Yari, Yue Mei, Todd Tiffany W, Hao Ying, Li Ziyi, McEachin Zachary T, Shantaraman Anantharaman, Duong Duc M, Daughrity Lillian M, Jansen-West Karen, Shao Wei, Calliari Anna, Bejarano Jesus Gonzalez, DeTure Michael, Rawlinson Bailey, Casey Monica Castanedes, Lilley Meredith T, Donahue Megan H, Jawahar Vidhya Maheswari, Boeve Bradley F, Petersen Ronald C, Knopman David S, Oskarsson Björn, Graff-Radford Neill R, Wszolek Zbigniew K, Dickson Dennis W, Josephs Keith A, Qi Yue A, Seyfried Nicholas T, Ward Michael E, Zhang Yong-Jie, Prudencio Mercedes, Petrucelli Leonard, Cook Casey N

Abstract excerpt

Genetic variation at the transmembrane protein 106B gene (TMEM106B) has been linked to risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) through an unknown mechanism. We found that presence of the TMEM106B rs3173615 protective genotype was associated with longer survival after symptom onset in a postmortem FTLD-TDP cohort, suggesting a slower disease course. The seminal discovery that...

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Alzheimer's disease research and treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Amyotrophic Lateral Sclerosis Research

DNA-Binding Proteins

Frontotemporal Dementia

Membrane Proteins

Nerve Tissue Proteins

Neurological diseases and metabolism

Polymorphism, Single Nucleotide

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Identifiers

PMID: 38232138
DOI: 10.1126/scitranslmed.adf9735
PMCID: PMC10841341

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