ALS genetics: gains, losses, and implications for future therapies
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
ALS genes in the genomic era and their implications for FTD
HP Nguyen, C Van Broeckhoven, J van der Zee - Trends in Genetics, 2018 - cell.com
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease, characterized
genetically by a disproportionately large contribution of rare genetic variation. Driven by …
genetically by a disproportionately large contribution of rare genetic variation. Driven by …
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi… - Nature …, 2016 - nature.com
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
Targeting Cdc20 as a novel cancer therapeutic strategy
Abstract The Anaphase Promoting Complex (APC, also called APC/C) regulates cell cycle
progression by forming two closely related, but functionally distinct E3 ubiquitin ligase sub …
progression by forming two closely related, but functionally distinct E3 ubiquitin ligase sub …
Chapter two intraflagellar transport (IFT): role in ciliary assembly, resorption and signalling
LB Pedersen, JL Rosenbaum - Current topics in developmental biology, 2008 - Elsevier
Cilia and flagella have attracted tremendous attention in recent years as research
demonstrated crucial roles for these organelles in coordinating a number of physiologically …
demonstrated crucial roles for these organelles in coordinating a number of physiologically …
Recent updates on the genetics of amyotrophic lateral sclerosis and frontotemporal dementia
L Kirola, A Mukherjee, M Mutsuddi - Molecular Neurobiology, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) primarily affect the
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …
Ciliary disorder of the skeleton
C Huber, V Cormier‐Daire - … Journal of Medical Genetics Part C …, 2012 - Wiley Online Library
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen
disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and …
disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and …
Actin remodelling factors control ciliogenesis by regulating YAP/TAZ activity and vesicle trafficking
Primary cilia exert a profound impact on cell signalling and cell cycle progression. Recently,
actin cytoskeleton destabilization has been recognized as a dominant inducer of …
actin cytoskeleton destabilization has been recognized as a dominant inducer of …
Genetics of amyotrophic lateral sclerosis
Abstract Purpose of Review Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …
HIV-1 capsids bind and exploit the kinesin-1 adaptor FEZ1 for inward movement to the nucleus
V Malikov, ES Da Silva, V Jovasevic, G Bennett… - Nature …, 2015 - nature.com
Intracellular transport of cargos, including many viruses, involves directed movement on
microtubules mediated by motor proteins. Although a number of viruses bind motors of …
microtubules mediated by motor proteins. Although a number of viruses bind motors of …