Macroautophagy in CNS health and disease

CJ Griffey, A Yamamoto - Nature Reviews Neuroscience, 2022 - nature.com
Macroautophagy is an evolutionarily conserved process that delivers diverse cellular
contents to lysosomes for degradation. As our understanding of this pathway grows, so does …

[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis

J Root, P Merino, A Nuckols, M Johnson… - Neurobiology of disease, 2021 - Elsevier
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation

D Lall, I Lorenzini, TA Mota, S Bell, TE Mahan… - Neuron, 2021 - cell.com
C9orf72 repeat expansions cause inherited amyotrophic lateral sclerosis
(ALS)/frontotemporal dementia (FTD) and result in both loss of C9orf72 protein expression …

Autophagy and ALS: mechanistic insights and therapeutic implications

JP Chua, H De Calbiac, E Kabashi, SJ Barmada - Autophagy, 2022 - Taylor & Francis
Mechanisms of protein homeostasis are crucial for overseeing the clearance of misfolded
and toxic proteins over the lifetime of an organism, thereby ensuring the health of neurons …

CRISPR-based functional genomics for neurological disease

M Kampmann - Nature Reviews Neurology, 2020 - nature.com
Neurodegenerative, neurodevelopmental and neuropsychiatric disorders are among the
greatest public health challenges, as many lack disease-modifying treatments. A major …

Molecular and cellular mechanisms affected in ALS

L Le Gall, E Anakor, O Connolly… - Journal of personalized …, 2020 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a terminal late-onset condition characterized by the
loss of upper and lower motor neurons. Mutations in more than 30 genes are associated to …

C9orf72-catalyzed GTP loading of Rab39A enables HOPS-mediated membrane tethering and fusion in mammalian autophagy

S Zhang, M Tong, D Zheng, H Huang, L Li… - Nature …, 2023 - nature.com
The multi-subunit homotypic fusion and vacuole protein sorting (HOPS) membrane-tethering
complex is required for autophagosome-lysosome fusion in mammals, yet reconstituting the …

Autophagy in health and disease: From molecular mechanisms to therapeutic target

G Lu, Y Wang, Y Shi, Z Zhang, C Huang, W He… - MedComm, 2022 - Wiley Online Library
Macroautophagy/autophagy is an evolutionally conserved catabolic process in which
cytosolic contents, such as aggregated proteins, dysfunctional organelle, or invading …

Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: implications for …

S Zhong, Y Lian, W Luo, R Luo, X Wu, J Ji, Y Ji… - Acta …, 2021 - Springer
Neuronal intranuclear inclusion disease (NIID) is neurodegenerative disease characterized
by widespread inclusions. Despite the identification of GGC repeat expansion in 5'UTR of …

Preclinical evaluation of WVE-004, an investigational stereopure oligonucleotide for the treatment of C9orf72-associated ALS or FTD

Y Liu, A Andreucci, N Iwamoto, Y Yin, H Yang… - … Therapy-Nucleic Acids, 2022 - cell.com
A large hexanucleotide (G 4 C 2) repeat expansion in the first intronic region of C9orf72 is
the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal …