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ProteomicsComparative proteome research in a zebrafish model for Vanishing White Matter disease
Vanishing white matter (VWM) disease is a genetic leukodystrophy leading to severe neurological disease and early death. VWM is caused by bi-allelic mutations in any of the five genes encoding the subunits of the eukaryotic translation factor 2B (EIF2B). Although previous studies are being attempted...
ORGANISM(S): Danio rerio (Zebrafish) (Brachydanio rerio) 
2021-09-10 | PXD023933 | Pride
Vanishing white matter disease Eif2b3 Comparative proteomics Slc1a4 
UnknownCase of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene.
Not available
S-EPMC5588653 | biostudies-literature
UnknownCorrelation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report.
Not available
S-EPMC6509580 | biostudies-literature
TranscriptomicsCRISPR RNA-seq from K562 (ENCSR786OLN)
RNA-seq on K562 cells treated with a CRISPR gRNA against EIF2B3. (EIF2B3-BGKcLV15) For data usage terms and conditions, please refer to http://www.genome.gov/27528022 and http://www.genome.gov/Pages/Research/ENCODE/ENCODE_Data_Use_Policy_for_External_Users_03-07-14.pdf
ORGANISM(S): Homo sapiens 
2021-06-15 | GSE177713 | GEO
TranscriptomicsCRISPR RNA-seq from HepG2 (ENCSR312UYN)
RNA-seq on HepG2 cells treated with a CRISPR gRNA against EIF2B3. (EIF2B3-BGHcLV16) For data usage terms and conditions, please refer to http://www.genome.gov/27528022 and http://www.genome.gov/Pages/Research/ENCODE/ENCODE_Data_Use_Policy_for_External_Users_03-07-14.pdf
ORGANISM(S): Homo sapiens 
2021-06-15 | GSE177119 | GEO
UnknownComparative Proteome Research in a Zebrafish Model for Vanishing White Matter Disease.
Not available
S-EPMC7962458 | biostudies-literature
UnknownFifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
Not available
S-EPMC4356545 | biostudies-literature
UnknownWhole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention.
Not available
S-EPMC7510158 | biostudies-literature
UnknownImmune-Omics Networks of CD27, PD1, and PDL1 in Non-Small Cell Lung Cancer.
Not available
S-EPMC8428355 | biostudies-literature
UnknownGenotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.
Not available
S-EPMC10658925 | biostudies-literature
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