Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Hereditary Cerebellar Ataxias Whole Genome Sequencing 2021

ABSTRACT: Looking to identify mutations in order to validate that lines we have classified as from Ataxia patients contain the disease relevant mutations. This will allow us to publish on the existance of these lines which are now commercially avalable. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

PROVIDER: EGAS00001006234 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

Mouse melanoma cell lines transcriptome sequencing

Project description:n this project we have sequenced the transcriptome of several comonly used mouse melanoma cell lines. Our aim is to understand what mutations and rearrangements are found in these cell lines to gain a better understanding of the genes that contribute to melanomagenesis. As these cell lines are used as models of melanoma these sequences represent an important resource for functional studies. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2015-01-17 | E-ERAD-94 | biostudies-arrayexpress

RNA sequencing of the intra erythrocytic lifecycle of Plasmodium chabaudi

Project description:The aim of this study is to characterise gene expression in the rodent malaria intra-erthrocytic development cycle. This will inform two further studies looking at host-parasite interactions in rodent malaria and in comparison to the same stage of human malaria will provide insight into variation in lifecycles between human and rodent malaria. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2013-07-01 | E-ERAD-162 | biostudies-arrayexpress

Proteome analysis of mouse cerebellar synaptosomes

Project description:In this study we have compared the proteomes from cerebellar synaptosome of early symptomatic Cstb-/- and wild type mice to gain insight into disease onset and progression of cystatin B deficiency. Biallelic loss-of-function mutations in the CSTB gene cause progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1). In the mouse model of EPM1, CSTB deficiency manifests from one month of age as progressive neurodegeneration, myoclonus and ataxia, which is preceded by neuroinflammation, alterations in GABAergic signaling, and a widespread rearrangement of the mitochondrial proteome in synapses.

2023-07-20 | PXD040382 | Pride

CRISPR Cas9 screens for drug resistance in AML cell lines

Project description:Acute myeloid leukaemia (AML) continues to have a very high mortality and its treatment hasnot changed for more than 20 years.Here, we propose to apply genomic-wide screens to directly identify therapeutic vulnerabilitiesof AML using AML cells lines with pre-defined somatic mutations. Our studies will be basedon genome-wide CRISPR/CAs9 gRNA screens and will be used to identify drivers of drugresistance to standard chemotherapies.This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2015-02-03 | E-ERAD-335 | biostudies-arrayexpress

Analysis on the transcriptomic profile in the cerebellar vermis of ataxia telangiectasia patients

Project description:Previous studies have demonstrated the possible roles of dysregulation of endogenous retroelements in the pathogenesis of neurodegenerative diseases. In our study, we demonstrated that the activation and upregulation of endogenous retroelement LINE-1 in the cerebellum can induce the cerebellar ataxia phenotype in vivo using mouse model. While there has been reports demonstrating that ATM gene, whose mutations are causative of Ataxia Telangiectasia (A-T) in humans, regulates LINE-1, and suggesting that the LINE-1 dysregulation caused by its mutation plays a role in the pathogenesis of ataxia phenotype in A-T, little is known about the transcriptome of the A-T patients’ cerebellum. This is the first detailed analysis of the cellular and retroelement transcriptome in A-T patient’s cerebellum, and the result of this analysis, together with the transcriptomic analysis in our LINE-1 activation mice, collectively suggests the profound roles of LINE-1 dysregulation in the development as well as the progression of ataxia in A-T patients.

2022-09-06 | GSE175776 | GEO

Comparing the cerebellar transcriptome of Sacs KO versus WT mice

Project description:Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in SACS gene encoding sacsin. ARSACS patients and mouse models display early degeneration of cerebellum in agreement with high sacsin expression in this organ. We performed unbiased transcriptomic of cerebella from Sacs KO mice versus controls to dissect the mechanisms underlying cerebellar degeneration in ARSACS.

2023-08-08 | GSE200876 | GEO

Proteomic analysis of cerebellar synaptosomes in presymptomatic cystatin B –deficient mice

Project description:Loss-of-function mutations in cystatin B (CSTB) cause progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1). Cstb-deficiency in mice leads to early alterations in GABAergic signaling, and causes neuroinflammation followed by progressive neurodegeneration, manifesting as progressive myoclonus and ataxia. The proteome of cerebellar synaptosomes of presymptomatic Cstb-/- mice were characterized by LC-ESI-MS/MS to gain insight into disease formation and progression.

2020-10-20 | PXD019370 | Pride

Cerebellar ataxia cases - samples

Project description:Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) samples

| EGAD00010000130 | EGA

Ataxia-telangiectasia cerebellar cortex expression

Project description:Cerebellar cortex expression in ataxia-telangiectasia patients and normal controls. The neurodegenerative disease known as ataxia-telangiectasia (A-T) is caused by the absence of the ATM (A-T mutated) protein. A long-standing mystery surrounding A-T is why cerebellar Purkinje cells (PCs) appear uniquely vulnerable to ATM-deficiency. Here, we present that 5-hydroxymethylcytosine (5hmC), a newly recognized epigenetic marker found at high levels in neurons, is substantially reduced in human A-T and Atm-/- mouse cerebellar PCs. TET1, an enzyme that converts 5mC to 5hmC, responds to DNA damage. Manipulation of TET1 activity directly affects neuronal cell cycle reentry and cell death after the induction of DNA damage. Quantitative, genome-wide analysis of 5hmC of samples from human cerebellum showed that in ATM-deficiency there is a remarkable genome-wide reduction of 5hmC enrichment at both proximal and distal regulatory elements. These results reveal a role of TET1-mediated 5hmC in DNA damage response, and provide insights into the basis of a PC-specific DNA demethylation alteration in ATM-deficiency. Human frozen tissue was obtained from the NICHD Brain and Tissue Bank of Developmental Disorders at the University of Maryland, Baltimore, MD. RNA was prepared and run on an Illumina Human HT-12 v4 microarray. 3 ataxia-telangiectasia (A-T) cases and 4 normal controls.

2015-10-30 | E-GEOD-61019 | biostudies-arrayexpress

Acquisition of additional mutations drives accelerated progression of NPM1 positive mice to AML Part II

Project description:We performed exome sequencing on samples from mice with accute myeloid leukeamia (AML). These mice were already sensitised to developing AML by the presence of mutations known to be key in the AML genesis. Exome sequencing was used to identify co-operating mutations in single and double mutant sensitised mice. Here we are performing re-sequencing of the putative driver and some passenger mutations which appear to be in the same clone to validate these mutations and to verify the relative quantification of these abnormalities .This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2015-09-08 | E-ERAD-393 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data