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Curated incidence of lysosomal storage diseases from the Taiwan Biobank
Lysosomal storage diseases (LSDs) are a group of metabolic disorders resulting from a deficiency in one of the lysosomal hydrolases. Most LSDs are...
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Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations
Loss of function progranulin ( GRN ) mutations are a major autosomal dominant cause of frontotemporal dementia (FTD). Patients with FTD due to GRN ...
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Lysosomal genes contribute to Parkinson’s disease near agriculture with high intensity pesticide use
Parkinson’s disease (PD), the second most common neurodegenerative disorder, develops sporadically, likely through a combination of polygenic and...
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Lysosomal and synaptic dysfunction markers in longitudinal cerebrospinal fluid of de novo Parkinson’s disease
Lysosomal and synaptic dysfunctions are hallmarks in neurodegeneration and potentially relevant as biomarkers, but data on early Parkinson’s disease...
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Comprehensive Analysis and Experimental Validation of the Parkinson’s Disease Lysosomal Gene ACP2 and Pan-cancer
The pivotal role of lysosomal function in preserving neuronal homeostasis is recognized, with its dysfunction being implicated in neurodegenerative...
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Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
BackgroundCurrent clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA...
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Reduced lysosomal activity and increased amyloid beta accumulation in silica-coated magnetic nanoparticles-treated microglia
Nanoparticles have been used in neurological research in recent years because of their blood–brain barrier penetration activity. However, their...
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Gaucher disease – more than just a rare lipid storage disease
Gaucher disease (GD), one of the most common lysosomal storage diseases, is caused by mutations in the gene, GBA1 , that leads to defective...
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Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A
Niemann-Pick type A disease (NPA) is a rare lysosomal storage disorder caused by mutations in the gene coding for the lysosomal enzyme acid...
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Lysosomal Pathogenesis of Parkinson’s Disease: Insights From LRRK2 and GBA1 Rodent Models
The discovery of mutations in LRRK2 and GBA1 that are linked to Parkinson’s disease provided further evidence that autophagy and lysosome pathways...
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Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major genetic risk factor for Parkinson’s disease...
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Defective lysosomal acidification: a new prognostic marker and therapeutic target for neurodegenerative diseases
Lysosomal acidification dysfunction has been implicated as a key driving factor in the pathogenesis of neurodegenerative diseases, including...
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Lysosomal Ion Channels and Lysosome–Organelle Interactions
Intracellular organelles exchange their luminal contents with each other via both vesicular and non-vesicular mechanisms. By forming membrane contact...
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Genetic assessment of pathogenic germline alterations in lysosomal genes among Asian patients with pancreatic ductal adenocarcinoma
BackgroundLysosomes are closely linked to autophagic activity, which plays a vital role in pancreatic ductal adenocarcinoma (PDAC) biology. The...
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Characterization of Endo-Lysosomal Cation Channels Using Calcium Imaging
Endo-lysosomes are membrane-bound acidic organelles that are involved in endocytosis, recycling, and degradation of extracellular and intracellular...
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Role of TFEB in Diseases Associated with Lysosomal Dysfunction
Transcription factor EB (TFEB) plays a very important role in the maintenance of cellular homeostasis. TFEB is a transcription factor that regulates...
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Lysosomal Potassium Channels
Lysosomes are acidic membrane-bound organelles that use hydrolytic enzymes to break down material through pathways such as endocytosis, phagocytosis,...
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Drug delivery for neuronopathic lysosomal storage diseases: evolving roles of the blood brain barrier and cerebrospinal fluid
Whereas significant strides have been made in the treatment of lysosomal storage diseases (LSDs), the neuronopathy associated with these diseases...
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TFEB–vacuolar ATPase signaling regulates lysosomal function and microglial activation in tauopathy
Transcription factor EB (TFEB) mediates gene expression through binding to the coordinated lysosome expression and regulation (CLEAR) sequence. TFEB...
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Reciprocal effects of alpha-synuclein aggregation and lysosomal homeostasis in synucleinopathy models
BackgroundLysosomal dysfunction has been implicated in a number of neurodegenerative diseases such as Parkinson’s disease (PD). Various molecular,...
