Results 51 to 60 of about 4,199 (162)
AAV Assembled Capsids Are Produced in Cells Blocked From Cell Cycle Progression
Biotechnology and Bioengineering, Volume 123, Issue 2, Page 273-286, February 2026.ABSTRACT Adeno‐associated virus (AAV) is a promising delivery system for gene therapy. However, current manufacturing of AAV suffers from very low yields compared to other biotherapeutics. The AAV dose per patient ranges between 1011and 1015 viral genomes (vg), requiring an average of 10 to 30 L production/dose.
Alaka Mullick +8 more
wiley +1 more source
Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report
Frontiers in Neurology, 2022 Cardiac magnetic resonance imaging (MRI) is an essential tool for the study of hypertrophic cardiomyopathies (HCM) and for differentiating HCM from conditions with increased ventricular wall thickness, such as cardiac storage diseases.
Giancarlo Todiere +7 more
doaj +1 more source
CLN3 deficiency leads to neurological and metabolic perturbations during early development
Life Science AllianceCln3 CRISPR mutant zebrafish larvae display BMP depletion and accumulation of glycerophosphodiesters and cholesteryl esters at very early developmental stages, recapitulating key features of human CLN3 disease. Juvenile neuronal ceroid lipofuscinosis (or
Ursula Heins-Marroquin +17 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Eriko Nishi +9 more
wiley +1 more source
Trial Readiness: Understanding the Natural History of Rare Diseases
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen +6 more
wiley +1 more source
Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease
Frontiers in Genetics, 2023 CLN3 disease, caused by biallelic mutations in the CLN3 gene, is a rare pediatric neurodegenerative disease that has no cure or disease modifying treatment. The development of effective treatments has been hindered by a lack of etiological knowledge, but
Tyler B. Johnson +19 more
doaj +1 more source
Molecular Genetics and Metabolism, 2000 The neuronal ceroid lipofuscinoses (NCLs) are the most common neurodegenerative disorders of childhood. We have examined mRNA levels of the CLN1, CLN2, and CLN3 genes, which are associated with the infantile, late infantile, and juvenile forms of NCL in 64 different human tissues, and have grouped the results into gastrointestinal tract, central ...
S, Chattopadhyay, D A, Pearce
openaire +2 more sources
Scientific ReportsMutations in the lysosomal membrane protein CLN3 cause Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). Activation of the lysosomal ion channel TRPML1 has previously been shown to be beneficial in several neurodegenerative disease models.
D. Wünkhaus +13 more
doaj +1 more source
eLife, 2017 Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death ...
Benedikt Grünewald +12 more
doaj +1 more source
The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course
JIMD Reports, 2020 Background CLN3 disease is a disorder of lysosomal homeostasis predominantly affecting the retina and the brain. The severity of the underlying mutations in CLN3 particularly determines onset and course of neurological deterioration.
Willemijn F. E. Kuper +7 more
doaj +1 more source