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 …
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]. …
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 …
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 …
neuronal cytoplasmic inclusions, … showed that TDP-43 immunoreactivity was associated with …
[HTML][HTML] Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy
… 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-…
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
… (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-… Common
variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions…
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
… Polymorphisms in TMEM106B, a gene on chromosome 7p21.… clinical outcomes in
frontotemporal lobar degeneration (FTLD) … inclusions, we failed to observe any neurons with …
frontotemporal lobar degeneration (FTLD) … inclusions, we failed to observe any neurons with …
Genetic contributions to sporadic frontotemporal dementia
… 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 …
GRN pathogenic variant … -wide significance all within chromosome 7p21, which includes the …
Recent advances in the genetics of frontotemporal dementia
… -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 …
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
… 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 …
TDP-43 inclusions. Nat Genet. 2010;42(3):234–9 (First study to map the genetic architecture of …