Results 131 to 140 of about 4,292 (163)
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CLN3 is required for the clearance of glycerophosphodiesters from lysosomes
Nature, 2022Lysosomes have many roles, including degrading macromolecules and signalling to the nucleus1. Lysosomal dysfunction occurs in various human conditions, such as common neurodegenerative diseases and monogenic lysosomal storage disorders (LSDs)2-4. For most LSDs, the causal genes have been identified but, in some, the function of the implicated gene is ...
Nouf N. Laqtom +15 more
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A diagnostic confidence scheme for
AbstractOver the past 20 years, diagnostic testing for genetic diseases has evolved, leading to variable diagnostic certainty for individuals included in long‐term natural history studies. Using genotype and phenotype data from an ongoing natural history study of CLN3 disease, we developed a hierarchical diagnostic confidence scheme with three major ...
Margaux C. Masten +8 more
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Intracellular Trafficking of the JNCL Protein CLN3
Molecular Genetics and Metabolism, 1999Juvenile neuronal ceroid lipofuscinosis is a lysosomal storage disease that causes visual impairment, progressive mental deterioration, and eventually death. A predominant 1.02-kb deletion as well as other mutations have been described in the CLN3 gene.
R E, Haskell +2 more
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Cerebrospinal Fluid Protein Biomarker Discovery in CLN3
Journal of Proteome Research, 2023Syndromic CLN3-Batten is a fatal, pediatric, neurodegenerative disease caused by variants in CLN3, which encodes the endolysosomal transmembrane CLN3 protein. No approved treatment for CLN3 is currently available. The protracted and asynchronous disease presentation complicates the evaluation of potential therapies using clinical disease progression ...
An N. Dang Do +7 more
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Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease
Annals of Neurology, 2019ObjectiveCLN3 disease is the commonest of the neuronal ceroid lipofuscinoses, a group of pediatric neurodegenerative disorders. Functions of the CLN3 protein include antiapoptotic properties and facilitating anterograde transport of galactosylceramide from Golgi to lipid rafts.
Sally El‐Sitt +9 more
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Cognitive test performance in CLN3 Disease is associated with the CLN3 Staging System (CLN3SS)
Summary CLN3 disease is an inherited neurodegenerative disease, typically with childhood onset, and characterized by vision loss, seizures, cognitive decline, and difficulties. The CLN3 Staging System (CLN3SS) characterizes disease progression.Samuel D Moran +7 more
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Reactions of positive ions with ClN3 at 300K
International Journal of Mass Spectrometry, 2011Abstract The kinetics of eighteen positive ions with chlorine azide (ClN3) have been studied using a selected ion flow tube (SIFT). These measurements allowed for the estimation of both the ionization energy, >930 kJ mol−1 (>9.6 eV), and the proton affinity, 713 ± 41 kJ mol−1, of chlorine azide. Reaction rate constants have been determined.
Nicole Eyet +3 more
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Photodissociation of ClN3 at 193 and 249 nm
The Journal of Chemical Physics, 1981Experiments directed toward elucidating the nature of fragments produced by the photodissociation of ClN3 have been performed. The utlraviolet absorption spectrum of this molecule exhibits three features between 300 and 170 nm, with λmax = 250, 205, and <170 nm.
R. D. Coombe +3 more
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CLN3 disease: Juvenile Dementia
2019Poster presentation at the Postgraduate Research Poster Competition held by the Graduate School at the Open University on 11th June 2019.
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A suppressor of cln3 for size control
Cell, 1993D J, Lew, N J, Marini, S I, Reed
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