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A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes
CLN2 Batten disease is a lysosomal disorder in which pathogenic variants in CLN2 lead to reduced activity in the enzyme tripeptidyl peptidase 1. The...
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Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)
BackgroundWe interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis),...
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Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease
CLN3 Batten disease is an autosomal recessive, neurodegenerative, lysosomal storage disease caused by mutations in CLN3 , which encodes a lysosomal...
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Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases
The last decade (2013–2023) has seen unprecedented successes in the clinical translation of therapeutic antisense oligonucleotides (ASOs). Eight such...
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Mechanisms of Action of the US Food and Drug Administration-Approved Antisense Oligonucleotide Drugs
Antisense oligonucleotides (ASOs) are single stranded nucleic acids that target RNA. The US Food and Drug Administration has approved ASOs for...
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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and...
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Alternative splicing in neurodegenerative disease and the promise of RNA therapies
Alternative splicing generates a myriad of RNA products and protein isoforms of different functions from a single gene. Dysregulated alternative...
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Neurofilament light chain levels correlate with clinical measures in CLN3 disease
PurposeCLN3 disease is a neurodegenerative disorder with onset in childhood. It affects multiple functions at different developmental stages....
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Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease
Ceroid lipofuscinosis type 3 (CLN3) is an autosomal recessive, neurodegenerative metabolic disease. Typical clinical symptoms include progressive...
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Adeno-associated virus vectors and neurotoxicity—lessons from preclinical and human studies
Over 15 years after hepatotoxicity was first observed following administration of an adeno-associated virus (AAV) vector during a hemophilia B...
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Recent Synergy of Nanodiamonds: Role in Brain-Targeted Drug Delivery for the Management of Neurological Disorders
The aim of the present review article is to summarize the role of nanodiamonds in various neurological diseases. We have taken related literature of...
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Activities of (Poly)phenolic Antioxidants and Other Natural Autophagy Modulators in the Treatment of Sanfilippo Disease: Remarkable Efficacy of Resveratrol in Cellular and Animal Models
Sanfilippo disease, caused by mutations in the genes encoding heparan sulfate (HS) (a glycosaminoglycan; GAG) degradation enzymes, is a...
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Açai Berry Mitigates Parkinson’s Disease Progression Showing Dopaminergic Neuroprotection via Nrf2-HO1 Pathways
The current pharmacological treatment for Parkinson’s disease (PD) is focused on symptom alleviation rather than disease prevention. In this study,...
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CRISPR and iPSCs: Recent Developments and Future Perspectives in Neurodegenerative Disease Modelling, Research, and Therapeutics
Neurodegenerative diseases are prominent causes of pain, suffering, and death worldwide. Traditional approaches modelling neurodegenerative diseases...
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Research progress of PPARγ regulation of cholesterol and inflammation in Alzheimer's disease
Peroxidase proliferator receptors (PPARs) are defined as key sensors and regulators of cell metabolism, transcription factors activated by ligands,...
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Neuronal Ganglioside and Glycosphingolipid (GSL) Metabolism and Disease
Glycosphingolipids (GSLs) are a diverse group of membrane components occurring mainly on the surfaces of mammalian cells. They and their metabolites...
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Phosphodiesterase-4 Inhibition in Parkinson’s Disease: Molecular Insights and Therapeutic Potential
Clinicians and researchers are exploring safer and novel treatment strategies for treating the ever-prevalent Parkinson’s disease (PD) across the...
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Brain transcriptome analysis of a CLN2 mouse model as a function of disease progression
BackgroundNeuronal ceroid lipofuscinoses, (NCLs or Batten disease) are a group of inherited, early onset, fatal neurodegenerative diseases associated...
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Clinical Trial Design for Disease-Modifying Therapies for Genetic Epilepsies
Although trials with anti-seizure medications (ASMs) have not shown clear anti-epileptogenic or disease-modifying activity in humans to date, rapid...
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An SBIR Case Study
This chapter shares a case study from the author from beginning to successful grant awards. This example shows the need for persistence and how the...