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CH019

ABSTRACT: MFSD8 single base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis

PROVIDER: PRJEB13139 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR1333886.fastq.gz	Fastqsanger.gz
	ERR1333886_1.fastq.gz	Fastqsanger.gz
	ERR1333886_2.fastq.gz	Fastqsanger.gz

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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.

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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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CLN6 deficiency causes selective changes in the lysosomal protein composition

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.

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CLN3 patients with differing progression of the disease

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.

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Project description:Neuronal Ceroid Lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpine Dachsbracke

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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

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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

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