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ABSTRACT: Gene sequencing in children with spinocerebellar ataxia

PROVIDER: PRJNA1135189 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR29845374_1.fastq.gz	Fastqsanger.gz
	SRR29845374_2.fastq.gz	Fastqsanger.gz
	SRR29845375.fastq.gz	Fastqsanger.gz

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Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis are prominent features of Aprataxin-deficient cells

Project description:Ataxia with oculomotor apraxia type 1 (AOA1) is an early onset progressive spinocerebellar ataxia caused by mutation in aprataxin (APTX). Here we use RNA-seq to identify genes that are affected by APTX-KO, APTX overexpression, and APTX mutant, thus contributes to understadning the mechanisms underlying AOA1 pathlogy. Examination the chages of gene expressions in APTX proficient and APTX deficienc cells.

2018-12-28 | E-GEOD-124412 | biostudies-arrayexpress

A new Knock-in mouse model of SCA14 with increased PKCγ activity induces a SCA-like phenotype with perturbed Purkinje cell maturation and ataxic motor behavior

Project description:Spinocerebellar ataxias (SCAs) are a group of cerebellar diseases characterized by loss and dysfunction of Purkinje cells and Spinocerebellar ataxia type 14 (SCA14) is caused by missense mutations or deletions in the Protein kinase C γ (PKCγ) gene. Until now, more than 40 different mutations or deletions in the PKCγ gene have been found in SCA14 patients. Many of these mutations have been shown to have an increased enzymatic activity in cell-based assays, but there is also evidence that the mutations may result in inefficient activation of downstream signalling pathways compatible with a loss of function. Therefore, it is still unclear how mutant PKCγ may cause the disease. We have previously generated a transgenic SCA14 mouse model with a human SCA14 mutation in the kinase domain. This transgenic mouse shows mild ataxia and abnormal Purkinje cell dendritic development with a morphology indistinguishable from that of PKC activator treated Purkinje cells, indicating that the PKCγ with this kinase domain mutation has indeed increased biological activity. In order to confirm that increased PKC activity in vivo perturbs Purkinje cell maturation and induces ataxia we have now created a new knock-in mouse model with a missense mutation in the PKCγ pseudosubstrate domain keeping the PKCγ protein in the open active conformation. This knock-in mouse shows indeed abnormal Purkinje cell maturation and ataxia, even in a heterozygous state corresponding to the human disease situation. Our findings confirm that constitutive activation of PKCγ is one way to induce a phenotype corresponding to human spinocerebellar ataxia.

2022-02-24 | PXD019335 | Pride

Transcriptome analysis of Spinocerebellar Ataxia 17 Aug

Project description:Transcriptome analysis of extracted total RNA from the the cerebellum and muscle of Spinocerebellar Ataxia 17 knock-in mouse model

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Cardiovascular exercise drives neuroprotection in Spinocerebellar Ataxia 1 via rescue of abherrant splicing

Project description:Objective: Spinocerebellar Ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene-targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias, yet the underlying mechanisms remain poorly understood. Results: Unrestricted exercise rescued motor ataxia in SCA1 mice but not degeneration in this model at the ages in this study. Transcriptional profiling of cerebellar tissue did separate WT sedentary and exercise mice by differential gene expression, but in SCA1 mice the most pronounced changes occurred at the level of RNA splicing, particularly in ion channel modules. Exercise led to a significant rescue of splicing events in SCA1 mice, with minimal impact on gene expression changes. Further, both exercised SCA1 and wild-type mice exhibited splicing patterns more similar to each other than their sedentary counterparts. Interpretation: Together with emerging evidence in other SCAs, our findings confirm aberrant splicing as a central driver of spinocerebellar ataxia (SCA) pathophysiology and identify splicing-regulated networks as actionable therapeutic targets. The observed benefits in SCA1 mice suggest that pharmacologic activation of ion channels may be a viable strategy to mimic exercise for disease modification across SCAs and related neurodegenerative disorders.

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Project description:Transcriptome analysis of Spinocerebellar Ataxia 17 Aug

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f575278b-0b7a-434a-8f2e-9ce9aa8100fe - samples

Project description:Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant inherited ataxia worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a polyglutamine (polyQ)-expansion in the corresponding protein. Here we have RNA-sequencing data from the cerebellum of individuals with SCA3 and matched controls.

| EGAD00001009317 | EGA

Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells

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Targeting RTN4/NoGo-Receptor reduces levels of ALS protein ataxin-2

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2022-10-18 | GSE200530 | GEO

RNA-seq of Spinocerebellar Ataxia Type2 (SCA2) transgenic mouse lines and age-matched wild-type

Project description:Spinocerebellar ataxia type 2 (SCA2) is among the progressive neurodegenerative polyglutamine (polyQ) diseases. It is caused by a CAG repeat expansion in an encoded region of the ATXN2 gene giving rise to an expanded polyQ domain in the encoded ATXN2 protein. SCA2 is an autosomal dominant disorder characterized by symptoms resulting from neurodegeneration of cerebellar Purkinje cells. To molecularly characterize SCA2 disease progression, we analyzed RNA-sequencing data produced using the cerebella of ATXN2Q127 mice collected at three distinct time points. The ATXN2Q127 mouse model contains 127 CAG repeats in the full-length ATXN2 cDNA under the control of the PC targeted Pcp2 promoter.

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TMEM16K is an interorganelle regulator of endosomal sorting.

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