Results 121 to 130 of about 4,199 (162)
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CLN3, at the crossroads of endocytic trafficking
Neuroscience Letters, 2021The CLN3 gene was identified over two decades ago, but the primary function of the CLN3 protein remains unknown. Recessive inheritance of loss of function mutations in CLN3 are responsible for juvenile neuronal ceroid lipofuscinosis (Batten disease, or CLN3 disease), a fatal childhood onset neurodegenerative disease causing vision loss, seizures ...
Susan L Cotman, Stéphane Lefrançois
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The CLN3 gene and protein: What we know [PDF]
Molecular Genetics & Genomic Medicine, 2019 AbstractBackgroundOne of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental understanding of the CLN3 gene, its regulation, gene product, protein structure, tissue ...
Michela Palmieri +2 more
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Structure of the CLN3 Gene and Predicted Structure, Location and Function of CLN3 Protein
Neuropediatrics, 1997The genomic sequence of the human CLN3 gene, which is defective in juvenile onset neuronal ceroid lipofuscinosis (Batten disease) is being delineated using a variety of methods. A Saccharomyces cerevisiae gene, YHC3 (for Yeast Homologue to human CLN3), which is highly similar to the human disease gene, has been identified by computer-aided homology ...
H M, Mitchison +11 more
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Expression Studies of CLN3 Protein
Neuropediatrics, 1997Expression of the gene for Batten disease (CLN3) was studied in Escherichia coli and in a cell-free rabbit reticulocyte expression systems. A full-length recombinant fusion CLN3 protein was not produced in the bacterial systems used. However, both N-terminal fragment encompassing 246 amino acids and short C-terminal fragment containing 428-438 amino ...
W, Kaczmarski +5 more
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Studies of Membrane Association of CLN3 Protein
Molecular Genetics and Metabolism, 1999The product of the CLN3 gene is a novel protein of unknown function. Simulations using amphiphacy algorithms have shown that structurally CLN3 may be another candidate for the family of membranous proteins. Signals controlling intracellular targeting of many membrane proteins are present as short sequences within their cytoplasmic domains. In fact, the
Wojciech Kaczmarski +2 more
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Photodissociation dynamics of ClN3 at 193nm
The Journal of Chemical Physics, 2006Photofragment translational spectroscopy was used to identify the primary and secondary reaction pathways in 193nm photodissociation of chlorine azide (ClN3) under collision-free conditions. Both the molecular elimination (NCl+N2) and the radical bond rupture channel (Cl+N3) were investigated and compared with earlier results at 248nm.
Scott J, Goncher +4 more
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Farnesylation of Batten Disease CLN3 Protein
Neuropediatrics, 1997The carboxyl terminal of the predicted amino acid sequence of the Batten disease CLN3 gene protein is CQLS. This motif is expected to be a site for farnesylation at the cysteine residue. In order to determine whether this is indeed farnesylated we have carried out the in-vitro prenylation of tetrapeptides CVLS, CAIL and CQLS using a farnesyl ...
R K, Pullarkat, G N, Morris
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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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Cross-Species Homology of the CLN3 Gene
Neuropediatrics, 1997A murine cDNA clone was isolated by screening a mouse cDNA library with the human CLN3 cDNA. Sequence analysis indicates that the corresponding CLN3 proteins are highly homologous. We have compared these with recently identified CLN3 sequences from the dog, the nematode C. elegans, and baker's yeast S. cerevisiae.
P E, Taschner, N, de Vos, M H, Breuning
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