Batten disease is a neurodegenerative disorder resulting from mutations in CLN3, a polytopic membrane protein, whose predominant intracellular destination in nonneuronal cells is the lysosome. The topology of CLN3 protein, its lysosomal targeting mechanism, and the development of Batten disease are poorly understood. (PDF) Biosynthesis and Intracellular Targeting of the CLN3 The function of the CLN3 protein remains unknown but the high evolutionary conservation demonstrated with homologous genes in Saccharomyces cerevisiae (BNT1) (7), Caenorhabditis elegans (8), mouse (9) and dog (8) suggests an important role for this protein in eukaryotic cells.In mutation screening of Batten patients, one founder mutation, a 1
Background:CLN3 protein function is still unknown, but its loss causes Batten disease. Results:Drug screening in a Batten disease model was developed to identify modifiers of altered cellular pathways. Conclusion:Alterations in Ca2 handling are implicated in Batten disease, which may negatively influence the intracellular pathways regulated CLN3 disease:MedlinePlus GeneticsOne CLN3 gene mutation, found in the vast majority of cases, leads to the production of an abnormally short protein. As a result, the abnormal CLN3 protein is broken down or may interfere with normal cellular processes. Other mutations reduce the amount of normal protein or impair its function. It is not known how loss of this protein causes the signs and symptoms of CLN3 disease. CLN3 disease, like other NCLs, is characterized by the accumulation of proteins CLN3p Impacts Galactosylceramide Transport, Raft JNCL is caused by CLN3 gene mutations that negatively modulate cell growth/apoptosis. CLN3-deficient raft vesicular structures are small by transmission electron microscopy, reflecting altered
Dr. David A. Pearce is a Orthopedist in Jackson, TN. Find Dr. Pearce's phone number, address, insurance information, hospital affiliations and more. Gene correction of the CLN3 c.175G>A variant in patient Jan 26, 2021 · Mutations in CLN3 cause Batten disease, however nonsyndromic CLN3 disease, characterized by retinalspecific degeneration, has been also described. Here, we characterized an induced pluripotent stem cell (iPSC)derived disease model derived from a patient with nonsyndromic CLN3 associated retinopathy. Two Motifs Target Batten Disease Protein CLN3 to Batten disease is a neurodegenerative disorder resulting from mutations in CLN3, a polytopic membrane protein, whose predominant intracellular destination in nonneuronal cells is the lysosome. The topology of CLN3 protein, its lysosomal targeting mechanism, and the development of Batten disease are poorly understood.
Juvenile neuronal ceroid lipofuscinoses (Batten disease) is a progressive neurodegenerative disorder resulting from mutations in the CLN3 gene, which encodes a hydrophobic 438 amino acid protein of unknown function. Prior studies have shown that CLN3 is eed in multiple tissues, with highest levels in brain and testis.