Pathological manifestation of human endogenous retrovirus K in frontotemporal dementia

K Phan, Y He, YH Fu, N Dzamko, S Bhatia… - Communications …, 2021 - nature.com
Background Behavioral variant frontotemporal dementia (bvFTD) is a common form of
younger-onset dementia with a proportion of cases overlapping pathologically and …

Frontotemporal lobar degeneration TDP-43-immunoreactive pathological subtypes: clinical and mechanistic significance

M Neumann, EB Lee, IR Mackenzie - … Dementias: Emerging Milestones of …, 2021 - Springer
Frontotemporal lobar degeneration with TPD-43-immunoreactive pathology (FTLD-TDP) is
subclassified based on the type and cortical laminar distribution of neuronal inclusions. The …

Antibody against TDP-43 phosphorylated at serine 375 suggests conformational differences of TDP-43 aggregates among FTLD–TDP subtypes

M Neumann, P Frick, F Paron, J Kosten, E Buratti… - Acta …, 2020 - Springer
Aggregation of hyperphosphorylated TDP-43 is the hallmark pathological feature of the most
common molecular form of frontotemporal lobar degeneration (FTLD–TDP) and in the vast …

Anti-sortilin1 Antibody Up-Regulates Progranulin via Sortilin1 Down-Regulation

S Miyakawa, H Sakuma, D Warude… - Frontiers in …, 2020 - frontiersin.org
Progranulin (PGRN) haploinsufficiency associated with loss-of-function mutations in the
granulin gene causes frontotemporal dementia (FTD). This suggests that increasing PGRN …

C9-ALS/FTD-linked proline–arginine dipeptide repeat protein associates with paraspeckle components and increases paraspeckle formation

H Suzuki, Y Shibagaki, S Hattori, M Matsuoka - Cell Death & Disease, 2019 - nature.com
A GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene has been identified as
the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal …

The role of de novo mutations in adult-onset neurodegenerative disorders

G Nicolas, JA Veltman - Acta Neuropathologica, 2019 - Springer
The genetic underpinnings of the most common adult-onset neurodegenerative disorders
(AOND) are complex in majority of the cases. In some families, however, the disease can be …

Parkin beyond Parkinson's Disease—A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies

K Gaweda-Walerych, EJ Sitek, E Narożańska, E Buratti - Cells, 2021 - mdpi.com
Parkin and PINK1 are key regulators of mitophagy, an autophagic pathway for selective
elimination of dysfunctional mitochondria. To this date, parkin depletion has been …

RNA binding proteins and the pathogenesis of frontotemporal lobar degeneration

JW Hofmann, WW Seeley… - Annual Review of …, 2019 - annualreviews.org
Frontotemporal dementia is a group of early onset dementia syndromes linked to underlying
frontotemporal lobar degeneration (FTLD) pathology that can be classified based on the …

Long non-coding RNA SNHG8 drives stress granule formation in tauopathies

R Bhagat, MA Minaya, A Renganathan, M Mehra… - Molecular …, 2023 - nature.com
Tauopathies are a heterogenous group of neurodegenerative disorders characterized by tau
aggregation in the brain. In a subset of tauopathies, rare mutations in the MAPT gene, which …

Network theoretical approach to explore factors affecting signal propagation and stability in dementia's protein-protein interaction network

AK Lalwani, K Krishnan, SA Bagabir, MF Alkhanani… - Biomolecules, 2022 - mdpi.com
Dementia—a syndrome affecting human cognition—is a major public health concern given
to its rising prevalence worldwide. Though multiple research studies have analyzed …