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Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-Juvenile Neuronal Ceroid Lipofuscinosis

ABSTRACT: Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-Juvenile Neuronal Ceroid Lipofuscinosis

PROVIDER: PRJNA565410 | ENA |

REPOSITORIES: ENA

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Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-Juvenile Neuronal Ceroid Lipofuscinosis

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.

2020-01-03 | GSE137420 | GEO

Gene expression in leucocytes of patients with autosomal dominat neronal ceroid lipofuscinosis (Kufs disease)

Project description:Identification of differentially expressed genes in lecocytes of patients with autosomal dominat neronal ceroid lipofuscinosis (Kufs disease)

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iTRAQ8 analysis of control and neuronal ceroid lipofuscinosis human brain samples.

Project description:iTRAQ8 analysis of autopsy samples representing brain and cerebrospinal fluid from neuronal ceroid lipofuscinosis patients and controls.

2017-06-06 | MSV000081143 | MassIVE

Proteomics insights into Infantile Neuronal Ceroid Lipofuscinosis (CLN1) point to the involvement of palmitoylation in the disease

Project description:Mutations in the depalmitoylation enzyme, palmitoyl protein thioesterase (PPT1), result in the early onset neurodegenerative disease known as Infantile Neuronal Ceroid Lipofuscinosis. Here, we provide proteomic evidence suggesting that PPT1 deficiency could be considered as a ciliopathy. An unbiased proteomic analysis of membranal brain proteins from neonate Ppt1 knock out and control mice revealed a list of 88 proteins with different expression levels. Among them, we identified Rab3IP, which is known to work in concert with Rab8 and Rab11 to regulated proper ciliogenesis. Surprisingly, PPT1 was observed to localize to cilia. Indeed, an unbiased proteomics analysis on isolated cilia revealed 660 proteins, which differed in their abundance between wild type and Ppt1 knock out. We demonstrate here that Rab3IP, Rab8 and Rab11 are palmitoylated proteins, and palmitoylation of Rab11 is required for proper intracellular localization. Most interestingly, cells and tissues from Ppt1-/- exhibited less ciliated cells and abnormally longer cilia with both acetylated tubulin and Rab3IP mis-distributed along the length of cilia. Overall, our results suggest a novel link between palmitoylated proteins, cilia organization and the pathophysiology of Neuronal Ceroid Lipofuscinosis.

2021-12-14 | PXD001966 | Pride

Gene expression in leucocytes of patients with autosomal dominat neronal ceroid lipofuscinosis (Kufs disease)

Project description:Identification of differentially expressed genes in lecocytes of patients with autosomal dominat neronal ceroid lipofuscinosis (Kufs disease) Leucocyte RNA expression of consanguineous Kufs disease cases (n=4) and unrelated healthy controls (n=4)

2011-09-30 | E-GEOD-30369 | biostudies-arrayexpress

Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis - LDN 6716

Project description:Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis - LDN 6716

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Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis - LDN 6716

Project description:Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis - LDN 6716

| PRJNA449798 | ENA

Brain transcriptome analysis of a TPP-1 neuronal ceroid lipofuscinosis mouse model as disease progresses

Project description:Brain transcriptome analysis of a TPP-1 neuronal ceroid lipofuscinosis mouse model as disease progresses

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Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.

Project description: Not available

| S-EPMC6937812 | biostudies-literature

Expression Profile Of A Caenorhabditis Elegans Model Of Adult Onset Neuronal Ceroid Lipofuscinosis Reveals Down Regulation Of Ubiquitin E3 Ligase Components.

Project description:Transcriptional profiling of two C. elegans mutants of dnj-14, the worm homolog of cysteine string protein (CSP), compared to two control strains N2 (Bristol) and CZ1200. CSP is a neuroprotective protein and the C. elegans mutants, tm3223 and ok237, are used to model the neurodegenerative disease, adult onset neuronal ceroid lipofucinosis (ANCL), which can occur as a result of mutations in the human CSP gene, DNAJC5. It is hoped that transcriptional profiling of these mutants might help to identify novel therapeutic targets for neurodegerative diseases such as ANCL.

2015-12-04 | E-MTAB-3147 | biostudies-arrayexpress

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