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AD009

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

PROVIDER: PRJEB14840 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR1539336.fastq.gz	Fastqsanger.gz
	ERR1539336_1.fastq.gz	Fastqsanger.gz
	ERR1539336_2.fastq.gz	Fastqsanger.gz

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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.

2024-10-28 | PXD016599 | Pride

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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CH019

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

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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.

2011-06-08 | GSE22225 | GEO

Identification of substrates of palmitoyl protein thioesterase 1 highlights roles of depalmitoylation in disulfide bond formation and synaptic function

Project description:Loss-of-function mutations in the depalmitoylating enzyme palmitoyl protein thioesterase 1 (PPT1) cause Neuronal Ceroid Lipofuscinosis (NCL), a devastating neurodegenerative disease. The substrates of PPT1 are largely undescribed, posing a limitation on molecular dissection of disease mechanisms and therapeutic development. Here, we provide a resource identifying >100 novel PPT1 substrates. We utilized Acyl Resin-Assisted Capture and mass spectrometry to identify proteins with increased in vivo palmitoylation in PPT1 knockout mouse brains. We then validated putative substrates through direct depalmitoylation with recombinant PPT1. This stringent screen elucidated diverse PPT1 substrates at the synapse, including channels and transporters, G-protein-associated molecules, endo/exocytic components, synaptic adhesion molecules, and mitochondrial proteins. Cysteine depalmitoylation sites in transmembrane PPT1 substrates frequently participate in disulfide bonds in the mature protein. We confirmed that depalmitoylation plays a role in disulfide bond formation in a tertiary screen analyzing post-translational modifications. Collectively, these data highlight the role of PPT1 in mediating synapse functions, implicate molecular pathways in the etiology of NCL and other neurodegenerative diseases, and advance our basic understanding of the purpose of depalmitoylation.

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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.

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cln3

Project description:Xenopus tropicalis cln3, ceroid-lipofuscinosis, neuronal 3 [Source:Xenbase;Acc:XB-GENE-997314], is differentially expressed in 1 experiment(s);

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Cln5

Project description:Mus musculus Cln5, ceroid-lipofuscinosis, neuronal 5 [Source:MGI Symbol;Acc:MGI:2442253], is differentially expressed in 91 experiment(s);

| ENSMUSG00000022125 | ExpressionAtlas

Cln6

Project description:Mus musculus Cln6, ceroid-lipofuscinosis, neuronal 6 [Source:MGI Symbol;Acc:MGI:2159324], is differentially expressed in 112 experiment(s);

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