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Endosomal trafficking in metabolic homeostasis and diseases
The global prevalences of obesity and type 2 diabetes mellitus have reached epidemic status, presenting a heavy burden on society. It is therefore...
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Simultaneously targeting extracellular vesicle trafficking and TGF-β receptor kinase activity blocks signaling hyperactivation and metastasis
Metastasis is the leading cause of cancer-related deaths. Transforming growth factor beta (TGF-β) signaling drives metastasis and is strongly...
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Vacuolin-1 inhibits endosomal trafficking and metastasis via CapZβ
Metastasis is the fundamental cause of cancer mortality, but there are still very few anti-metastatic drugs available. Endosomal trafficking has been...
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Vesicle trafficking and lipid metabolism in synucleinopathy
The neuronal protein α-synuclein (αS) is central to the pathogenesis of Parkinson’s disease and other progressive brain diseases such as Lewy body...
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Rhei Undulati Rhizoma attenuates memory decline and reduces amyloid-β induced neuritic dystrophy in 5xFAD mouse
BackgroundAlzheimer's disease (AD) is a common type of dementia characterized by amyloid-β (Aβ) accumulation, lysosomal dysfunction, and tau...
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A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis
IntroductionSpastic paraplegia type 11 (SPG11) is the most frequent autosomal recessive HSP. Studies on SPG11 patients’ fibroblasts, post-mortem...
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Navigating the Complex Landscape of Ebola Infection Treatment: A Review of Emerging Pharmacological Approaches
In 1976 Ebola revealed itself to the world, marking the beginning of a series of localized outbreaks. However, it was the Ebola outbreak that began...
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Extracellular protein homeostasis in neurodegenerative diseases
The protein homeostasis (proteostasis) system encompasses the cellular processes that regulate protein synthesis, folding, concentration, trafficking...
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Effects of APOE4 allelic dosage on lipidomic signatures in the entorhinal cortex of aged mice
Apolipoprotein E ε4 ( APOE4 ) is the primary genetic risk factor for the late-onset form of Alzheimer’s disease (AD). Although the reason for this...
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More than meets the eye in Parkinson’s disease and other synucleinopathies: from proteinopathy to lipidopathy
The accumulation of proteinaceous inclusions in the brain is a common feature among neurodegenerative diseases such as Alzheimer’s disease,...
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The role of lysosomes in metabolic and autoimmune diseases
Lysosomes are catabolic organelles that contribute to the degradation of intracellular constituents through autophagy and of extracellular components...
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APP and DYRK1A regulate axonal and synaptic vesicle protein networks and mediate Alzheimer’s pathology in trisomy 21 neurons
Trisomy 21 (T21) causes Down syndrome and an early-onset form of Alzheimer’s disease (AD). Here, we used human induced pluripotent stem cells...
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Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
Cohen syndrome (CS) is a rare multisystem autosomal recessive disorder associated with mutations in VPS13B (vacuolar protein sorting homolog 13B)....
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TLR7 Signaling in Lupus B Cells: New Insights into Synergizing Factors and Downstream Signals
Purpose of the ReviewSystemic lupus erythematosus (SLE) is driven by nucleic acid-containing antigens that stimulate endosomal TLRs. We review new...
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Olanzapine, risperidone and ziprasidone differently affect lysosomal function and autophagy, reflecting their different metabolic risk in patients
The metabolic effects induced by antipsychotics in vitro depend on their action on the trafficking and biosynthesis of sterols and lipids. Previous...
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Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease
Since the initial identification of TMEM106B as a risk factor for frontotemporal lobar degeneration (FTLD), multiple genetic studies have found TMEM106B...
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Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30
Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent involuntary muscle contractions, causing abnormal postures...