Genetics and molecular mechanisms of frontotemporal lobar degeneration: an update and future avenues

R Ferrari, C Manzoni, J Hardy - Neurobiology of aging, 2019 - Elsevier
… Tau, the protein product of the MAPT gene, and TDP-43, the … Rarely (∼10%), other proteins
are found in the inclusion … protein 106B (TMEM106B) gene (7p21.3). Replication analysis …

Molecular pathways involved in frontotemporal lobar degeneration with TDP-43 proteinopathy: what can we learn from proteomics?

MO Mol, SSM Miedema, JC van Swieten… - International Journal of …, 2021 - mdpi.com
… Therefore, specifically analyzing the pathologic inclusion … did not show overlap with TDP-43
inclusions, but revealed irregular … as promising strategy for TDP-43 related disease [122]. …

Genetic diversity in frontotemporal dementia

YA Shpilyukova, EY Fedotova, SN Illarioshkin - Molecular Biology, 2020 - Springer
… and TDP-43-negative neuronal cytoplasmic inclusions in … in the TDP-43 protein is based
on the fact that TDP-43 regulates … A possible locus in the 7p21 chromosome, containing the …

Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains

KA Josephs, ME Murray, N Tosakulwong… - Acta …, 2019 - Springer
… not meet criteria for frontotemporal lobar degeneration (FTLD)… of TDP-43 immunoreactive
neuronal cytoplasmic inclusions, … showed that TDP-43 immunoreactivity was associated with …

[HTML][HTML] Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy

Y Chornenkyy, DW Fardo, PT Nelson - Laboratory investigation, 2019 - Elsevier
… gene variants can alter risk for Tau or TDP-43 pathologies, … can influence TDP-43 to form
pathologic inclusions. One … SNPs on chromosome 7p21.3 that were associated with FTLD-…

Limbic-predominant age-related TDP-43 encephalopathy (LATE-NC): Co-pathologies and genetic risk factors provide clues about pathogenesis

PT Nelson, DW Fardo, X Wu, KZ Aung… - … of Neuropathology & …, 2024 - academic.oup.com
… (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-… Common
variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

A novel temporal‐predominant neuro‐astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS‐TDP

JJ Llibre‐Guerra, SE Lee, CK Suemoto… - Brain …, 2021 - Wiley Online Library
… Polymorphisms in TMEM106B, a gene on chromosome 7p21.… clinical outcomes in
frontotemporal lobar degeneration (FTLD) … inclusions, we failed to observe any neurons with …

Genetic contributions to sporadic frontotemporal dementia

JS Carr, DW Sirkis, JS Yokoyama - Genetics, Neurology, Behavior, and Diet …, 2020 - Elsevier
inclusions are present in 45% of FTLD cases, MAPT variants … diagnosed TDP-43 cases and
GRN pathogenic variant … -wide significance all within chromosome 7p21, which includes the …

Recent advances in the genetics of frontotemporal dementia

DW Sirkis, EG Geier, LW Bonham, CM Karch… - … genetic medicine reports, 2019 - Springer
… -associated proteins such as TDP-43 and FUS. However, it remains unclear whether rare
variants in … analyses in pathologically proven frontotemporal lobar degeneration (FTLD) due to …

Limbic-predominant age-related TDP-43 encephalopathy: LATE-breaking updates in clinicopathologic features and biomarkers

MT Duong, DA Wolk - Current neurology and neuroscience reports, 2022 - Springer
Common variants at 7p21 are associated with frontotemporal lobar degeneration with
TDP-43 inclusions. Nat Genet. 2010;42(3):234–9 (First study to map the genetic architecture of …