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In families where the mutation in the gene for CLN3 is known, DNA analysis can be used to confirm the diagnosis or for the prenatal diagnosis of Batten disease.
Writing about their study in the journal Disease Models and Mechanisms (DMM), the researchers revealed that they created a variety of mutations based on CLN3 defects identified in Batten disease patients, and studied their effects in a fission yeast protein highly similar to the gene.
cerevisiae enhances expression of ribosomal protein genes, glycolytic genes, and all three G1 cyclin genes (CLN1, CLN2, and CLN3).
DBS were obtained from 6 patients with CLN1, 5 patients with CLN2, and 2 patients with the juvenile form CLN3, as well as from 70 control individuals.
Report additional two-year results from Phase 1/2 clinical study in CLN6 Batten disease and complete enrollment in ongoing CLN3 Batten disease Phase 1/2 study.
Amicus announced the initiation of a Phase 1/2 clinical study to evaluate the safety and efficacy of a single intrathecal administration of adeno-associated virus serotype 9 AAV9-CLN3 gene therapy in children with CLN3 Batten disease.
The Gene THI73 and its Role in G1 Cyclin Cln3 Function in S.
Five genes (CLN1, CLN2, CLN3, CLN5, and CLN8) have been identified that are mutated in different forms of NCL: respectively, infantile NCL (1); late infantile NCL (2,3); classical juvenile NCL (4-6); Finnish variant late infantile NCL (7); and the progressive epilepsy with mental retardation (EPMR, also called Northern epilepsy) (8).
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