Molecular mechanisms and physiological functions of mitophagy
Degradation of mitochondria via a selective form of autophagy, named mitophagy, is a
fundamental mechanism conserved from yeast to humans that regulates mitochondrial …
fundamental mechanism conserved from yeast to humans that regulates mitochondrial …
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 …
Modelling amyotrophic lateral sclerosis in rodents
TW Todd, L Petrucelli - Nature Reviews Neuroscience, 2022 - nature.com
The efficient study of human disease requires the proper tools, one of the most crucial of
which is an accurate animal model that faithfully recapitulates the human condition. The …
which is an accurate animal model that faithfully recapitulates the human condition. The …
Comprehensive analysis of the mutation spectrum in 301 German ALS families
Objectives Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed
that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal …
that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal …
Genotype–phenotype links in frontotemporal lobar degeneration
S Van Mossevelde, S Engelborghs… - Nature Reviews …, 2018 - nature.com
Frontotemporal lobar degeneration (FTLD) represents a group of neurodegenerative brain
diseases with highly heterogeneous clinical, neuropathological and genetic characteristics …
diseases with highly heterogeneous clinical, neuropathological and genetic characteristics …
[HTML][HTML] ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
M de Majo, SD Topp, BN Smith, AL Nishimura… - Neurobiology of …, 2018 - Elsevier
Mutations in TANK binding kinase 1 (TBK1) have been linked to amyotrophic lateral
sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through …
sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through …
Multifaceted genes in amyotrophic lateral sclerosis-frontotemporal dementia
R Ranganathan, S Haque, K Coley… - Frontiers in …, 2020 - frontiersin.org
Amyotrophic lateral sclerosis and frontotemporal dementia are two progressive, adult onset
neurodegenerative diseases, caused by the cell death of motor neurons in the motor cortex …
neurodegenerative diseases, caused by the cell death of motor neurons in the motor cortex …
Mitochondrial clearance: mechanisms and roles in cellular fitness
Mitophagy is one of the selective autophagy pathways that catabolizes dysfunctional or
superfluous mitochondria. Under mitophagy‐inducing conditions, mitochondria are labeled …
superfluous mitochondria. Under mitophagy‐inducing conditions, mitochondria are labeled …
[HTML][HTML] Functional and structural consequences of TBK1 missense variants in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Y Gurfinkel, N Polain, K Sonar, P Nice… - Neurobiology of …, 2022 - Elsevier
Mutations in the Tank-binding kinase 1 (TBK1) gene were identified in 2015 in individuals
with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) …
with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) …
Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation
Mutations in the TBK1 (TANK binding kinase 1) gene are causally linked to amyotrophic
lateral sclerosis (ALS) and frontotemporal dementia (FTD). TBK1 phosphorylates the cargo …
lateral sclerosis (ALS) and frontotemporal dementia (FTD). TBK1 phosphorylates the cargo …