The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia

YA Abramzon, P Fratta, BJ Traynor… - Frontiers in neuroscience, 2020 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two diseases
that form a broad neurodegenerative continuum. Considerable effort has been made to …

Valosin-containing protein (VCP)/p97: a prognostic biomarker and therapeutic target in cancer

S Costantini, F Capone, A Polo, P Bagnara… - International journal of …, 2021 - mdpi.com
Valosin-containing protein (VCP)/p97, a member of the AAA+ ATPase family, is a molecular
chaperone recruited to the endoplasmic reticulum (ER) membrane by binding to membrane …

The functional importance of VCP to maintaining cellular protein homeostasis

BA Ahlstedt, R Ganji, M Raman - Biochemical Society …, 2022 - portlandpress.com
The AAA-ATPase (ATPases associated with diverse cellular activities) valosin-containing
protein (VCP), is essential for many cellular pathways including but not limited to …

[HTML][HTML] TDP-43 proteinopathy in frontotemporal lobar degeneration and amyotrophic lateral sclerosis: From pathomechanisms to therapeutic strategies

PC Ho, TC Hsieh, KJ Tsai - Ageing Research Reviews, 2024 - Elsevier
Proteostasis failure is a common pathological characteristic in neurodegenerative diseases.
Revitalizing clearance systems could effectively mitigate these diseases. The transactivation …

Adeno-associated virus mediated gene therapy for corneal diseases

P Bastola, L Song, BC Gilger, ML Hirsch - Pharmaceutics, 2020 - mdpi.com
According to the World Health Organization, corneal diseases are the fourth leading cause
of blindness worldwide accounting for 5.1% of all ocular deficiencies. Current therapies for …

Extracting functional insights from loss-of-function screens using deep link prediction

PP Strybol, M Larmuseau, LS van Brienen… - Cell Reports …, 2022 - cell.com
We present deep link prediction (DLP), a method for the interpretation of loss-of-function
screens. Our approach uses representation-based link prediction to reprioritize phenotypic …

Genetics of amyotrophic lateral sclerosis and frontotemporal dementia and the potential for discovering new genes and pathways underlying these neurological …

Y Abramzon - 2022 - discovery.ucl.ac.uk
Despite tremendous progress in amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) genetic research over the last two decades, only 20% to 40% of the …

[引用][C] Regulation of PP1 activity by binding and p97-mediated dissociation of SDS22 and Inhibitor-3

AF Kück - 2024 - Dissertation, Duisburg, Essen …

[引用][C] Leveraging comprehensive cancer systems genetic data to uncover the modus operandi of driver mutations

M Larmuseau - 2022 - biblio.ugent.be
In 2003 the human genome project concluded and had characterized about 99% of the
human genome. This phenomenal achievement would go on and fuel many technological …