Project description:We developed an invitro model for Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) using isogenic CLN3 mutated human iPS cell lines and performed transcriptomic profiling of brain organoids derived from these lines to identify transcriptomic changes in the early developing brain model.
Project description:Identification of differentially expressed genes in lecocytes of patients with autosomal dominat neronal ceroid lipofuscinosis (Kufs disease)
Project description:Neuronal Ceroid Lipofuscinosis 6 (NCL6) is a neurodegenerative, lysosomal storage disease. It is caused by a deficiency of the transmembrane protein ceroid-lipofuscinosis neuronal protein 6 (CLN6) that resides in the endoplasmic reticulum. In this project the lysosomal proteome changes in NCL6 were investigated. Therefore, lysosomes were purifiedfrom liver tissue of CLN6 knock-out mice, the proteins were labeled by TMT and the CLN6 proteome was compared to wild type controls. Lysosome purification was obtained by either isolation of tritosomes or differential centrifugation generating 20,000 g pellets.
Project description:Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by visual loss, epilepsy and psychomotor deterioration. Although most CLN3 patients carry the same 1 kb deletion in the CLN3 gene, their disease phenotype can be variable. The aims of this study were (1) to identify genes that are dysregulated in CLN3 disease regardless of the clinical course that could be useful as biomarkers, and (2) to find modifier genes that affect the progression rate of the disease. Genome-wide expression profiling was performed in 8 CLN3 patients, homozygous for the 1 kb deletion, with different disease progression and compared to seven age and gender matched controls.
Project description:iTRAQ8 analysis of autopsy samples representing brain and cerebrospinal fluid from neuronal ceroid lipofuscinosis patients and controls.