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

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

PROVIDER: PRJNA726561 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR14371459.fastq.gz	Fastqsanger.gz
	SRR14371460.fastq.gz	Fastqsanger.gz
	SRR14371461.fastq.gz	Fastqsanger.gz
	SRR14371462.fastq.gz	Fastqsanger.gz
	SRR14371463.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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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.

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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)

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Project description:Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis (jNCL) mice highly susceptible to light damage

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