Molecular mechanisms and physiological functions of mitophagy

M Onishi, K Yamano, M Sato, N Matsuda… - The EMBO …, 2021 - embopress.org
Degradation of mitochondria via a selective form of autophagy, named mitophagy, is a
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 …

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 …

Comprehensive analysis of the mutation spectrum in 301 German ALS families

K Müller, D Brenner, P Weydt, T Meyer… - Journal of Neurology …, 2018 - jnnp.bmj.com
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 …

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 …

[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 …

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 …

Mitochondrial clearance: mechanisms and roles in cellular fitness

M Onishi, K Okamoto - FEBS letters, 2021 - Wiley Online Library
Mitophagy is one of the selective autophagy pathways that catabolizes dysfunctional or
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) …

Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation

A Catanese, F Olde Heuvel, M Mulaw, M Demestre… - Autophagy, 2019 - Taylor & Francis
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 …