Results 31 to 40 of about 4,199 (162)
Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease
European Journal of Paediatric Neurology, 2022 CLN3 disease (MIM# 204200), the most prevalent of the neuronal ceroid lipofuscinoses (NCL), is an autosomal recessive disorder with juvenile onset characterized by blindness, epilepsy, dementia, psychiatric manifestations, and motor deterioration. Problems related to behavior, emotions and thought are among the main features.
A, Savvidou +5 more
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A timeline of symptom onset and disease progression in CLN3 disease. [PDF]
Orphanet J Rare DisABSTRACT Background CLN3 disease, or Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), is a rare, genetic neurodegenerative condition, typically manifesting in the first decade of life and progressing in severity, with death typically occurring in early adulthood. Despite two decades of natural history
Whiteman IT +11 more
europepmc +4 more sources
Neurobiology of Disease, 2006 Batten disease, a lysosomal storage disorder, is caused by mutations in the CLN3 gene. The Cln3-knockout (Cln3−/−) mouse model of the disease exhibits many characteristic pathological features of the human disorder.
Attila D. Kovács +2 more
doaj +1 more source
The yeast Cln3 protein is an unstable activator of Cdc28. [PDF]
Molecular and Cellular Biology, 1993 The Cln3 cyclin homolog of Saccharomyces cerevisiae functions to promote cell cycle START for only a short time following its synthesis. Cln3 protein is highly unstable and is stabilized by C-terminal truncation. Cln3 binds to Cdc28, a protein kinase catalytic subunit essential for cell cycle START, and Cln3 instability requires Cdc28 activity.
F R, Cross, C M, Blake
openaire +2 more sources
, 2023 smFISH Data of the A. gossypii cyclin CLN3, supporting the work "The Role of RNA Phase Separation in Noise Suppression". Each of the 15 hyphae imaged have four associated data sets: the raw (deconvolved) image data, detected RNA locations, hyphal masks, and nuclear masks.
openaire +2 more sources
Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease). [PDF]
PLoS ONE, 2016 The neuronal ceroid lipofuscinoses are a group of lysosomal storage disorders that comprise the most common, genetically heterogeneous, fatal neurodegenerative disorders of children.
Kim Wager +5 more
doaj +1 more source
Biology Open, 2014 Wolfram syndrome (WFS) is a progressive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. WFS1 and WFS2 are caused by recessive mutations in the genes Wolfram Syndrome 1 (WFS1) and CDGSH iron ...
Melanie A. Jones +12 more
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity
JIMD Reports, 2020 Background The CLN3 disease spectrum ranges from a childhood‐onset neurodegenerative disorder to a retina‐only disease. Given the lack of metabolic disease severity markers, it may be difficult to provide adequate counseling, particularly when novel ...
Willemijn F. E. Kuper +11 more
doaj +1 more source
The Effect of Protein Tagging on Aggregation and Phase Separation
Journal of Cellular Biochemistry, Volume 127, Issue 6, June 2026.ABSTRACT Protein tags are widely used for purification, solubilization, detection, and imaging, yet they can substantially alter protein self‐assembly. This interference is particularly significant for intrinsically disordered proteins and low‐complexity domains, whose aggregation and phase separation are mediated by weak multivalent interactions that ...
Harunobu Saito, Kenji Sugase
wiley +1 more source