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A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface
Mutations in CLN3 lead to photoreceptor cell loss in CLN3 disease, a lysosomal storage disorder characterized by childhood-onset vision loss,...
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Comparative analysis of the gut microbiota composition in the Cln1R151X and Cln2R207X mouse models of Batten disease and in three wild-type mouse strains
Accumulated evidence indicates that the gut microbiota affects brain function and may be altered in neurological diseases. In this study, we analyzed...
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Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases
Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration and impose a considerable economic burden on patients and...
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Characterization of microtubule-associated protein tau isoforms and Alzheimer’s disease-like pathology in normal sheep (Ovis aries): relevance to their potential as a model of Alzheimer’s disease
Alzheimer’s disease is a chronic neurodegenerative disease that accounts for up to 80% of all dementias. Characterised by deteriorations of memory...
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A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis
Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease. The thirteen forms of NCL are caused by...
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Past, present, and future perspectives of transcription factor EB (TFEB): mechanisms of regulation and association with disease
Transcription factor EB (TFEB), a member of the MiT/TFE family of basic helix-loop-helix leucine zipper transcription factors, is an established...
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Non-coding RNAs in human health and disease: potential function as biomarkers and therapeutic targets
Human diseases have been a critical threat from the beginning of human history. Knowing the origin, course of action and treatment of any disease...
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Glycosphingolipid metabolism and its role in ageing and Parkinson’s disease
It is well established that lysosomal glucocerebrosidase gene ( GBA ) variants are a risk factor for Parkinson’s disease (PD), with increasing evidence...
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Molecular mechanisms of the juvenile form of Batten disease: important role of MAPK signaling pathways (ERK1/ERK2, JNK and p38) in pathogenesis of the malady
BackgroundMutations in the CLN3 gene lead to so far an incurable juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten disease that starts...
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Drug Discovery and Development for Rare Genetic Disorders
A rare disease is any condition that has an extremely low prevalence on an individual basis, and most rare diseases are genetic disorders. Owing to...
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The Role of iPSC Modeling Toward Projection of Autophagy Pathway in Disease Pathogenesis: Leader or Follower
Autophagy is responsible for degradation of non-essential or damaged cellular constituents and damaged organelles. The autophagy pathway maintains...
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From the regulatory mechanism of TFEB to its therapeutic implications
Transcription factor EB (TFEB), known as a major transcriptional regulator of the autophagy-lysosomal pathway, regulates target gene expression by...
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Targeting Alternative Splicing for Therapeutic Interventions
Targeting of pre-mRNA splicing has yielded a rich variety of strategies for altering gene expression as a treatment for disease. The search for...
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Genetically modified mice as a tool for the study of human diseases
Modeling a human disease is an essential part of biomedical research. The recent advances in the field of molecular genetics made it possible to...
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Dopamine and serotonin in human substantia nigra track social context and value signals during economic exchange
Dopamine and serotonin are hypothesized to guide social behaviours. In humans, however, we have not yet been able to study neuromodulator dynamics as...
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Protein–Protein Interactions in Neurodegenerative Diseases
Neurodegeneration is a state of progressive decay of neuronal structure and function. It has gained scientific attention owing to the fact that...
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Mesenchymal Stem Cells as Modern Off-the-Shelf Products: From Research Perspectives to Clinical Practice
Mesenchymal stem cells (MSCs) are multipotent stem cells capable of differentiating into many cell types. They also have a remarkable ability to...
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Applications of Animal Cell Culture-Based Assays
Advances in animal cell culture and cell-based assays have revolutionised the current scenario for development of biomarkers, genetic manipulation...