Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Compound heterozygous mutations in SPG11 revealed by WGS

ABSTRACT: Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region mutation and known pathogenic mutation in SPG11

PROVIDER: PRJEB14049 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Project description:hereditary spastic paraplegia

| PRJNA699100 | ENA

Project description:To understand the disease mechanism of SPG7 hereditary spastic paraplegia, we generated and evaluated patient and control induced pluripotent stem cell derived cortical neurons. We then performed gene expression profiling analysis using data obtained from RNA-seq.

2023-05-30 | GSE233258 | GEO

GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA

Project description:GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA

| PRJNA313999 | ENA

Homo sapiens

Project description:GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA

| PRJNA314000 | ENA

N471D WASH complex subunit strumpellin knock-in mice display BPTF and KLHL11 dysregulation in brain tissue

Project description:We investigated brain tissue from N471D WASH complex subunit strumpellin knock-in mice as a genetic model for hereditary spastic paraplegia type 8. While WASHC5-related protein interaction partners and complexes showed no change in abundancies, the proteomic analysis depicted consistent upregulation of BPTF and downregulation of KLHL11 in heterozygous and homozygous knock-in mice. This finding suggests mechanistic links for hereditary spastic paraplegia type 8 through the roles of BPTF and KLHL11 in neurodegeneration and protein quality control, respectively.

2021-07-26 | PXD025315 | Pride

Project description:SPAST variant that causes hereditary spastic paraplegia

| PRJNA623078 | ENA

Project description:Toxoplasmosis accelerates the progression of hereditary spastic paraplegia

| PRJNA1110596 | ENA

Project description:Genetic variants of patients with hereditary spastic paraplegia

| PRJEB81411 | ENA

Transcription profiling of human hereditary spastic paraplegia patients

Project description:The goal of this project is to study differentially expressed genes in patients affected by Hereditary Spastic Paraplegia (HSP) linked to mutations of the gene encoding spastin an ubiquitously expressed protein that has recently been shown to be involved in microtubule regulation and vesicle trafficking by cell culture studies. Gene profiling was done with Affymetrix U95Av2 GeneChips using the total RNA extracted from muscle biopsies of 3 SPG4-linked HSP patients.

2007-07-29 | E-GEOD-1300 | biostudies-arrayexpress

Hereditary Spastic Paraparesis

2004-04-14 | GSE1300 | GEO