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Proteomics,MultiomicsAnalysis of peripheral neuron protein expression in the absence of Ikbkap/Elp1
Familial dysautonomia (FD) results from mutation in IKBKAP/ELP1, a gene encoding the scaffolding protein for the Elongator complex. This highly conserved complex is required for the methoxy-carbonyl-methyl (mcm5) modification of uridines located in the wobble position of tRNA molecules (U34). In F...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
MSV000081568 | MassIVE
GenomicsGene expression changes induced by Elp1 deficiency during early myeloid differentiation [elp1]
Gene expression changes induced by Elp1 deficiency during early myeloid differentiation [elp1]
PRJNA1076248 | ENA
ProteomicsGermline ELP1 deficiency sensitizes cerebellar granule neuron progenitors to SHH medulloblastoma
Germline loss-of-function (LOF) variants in Elongator complex protein 1 (ELP1) are the most prevalent predisposing genetic events in childhood medulloblastoma (MB), accounting for ~30% of the Sonic Hedgehog (SHH) 3 subtype. The underlying mechanism(s) by which germline ELP1 deficiency provokes SHH-M...
ORGANISM(S): Mus musculus (Mouse) 
2025-04-11 | PXD050488 | Pride
Medulloblastoma Shh-3 mb P53 signaling Tumor predisposition Gnp Elp1 
ProteomicsGermline ELP1 deficiency sensitizes cerebellar granule neuron progenitors to SHH medulloblastoma
Germline loss-of-function (LOF) variants in Elongator complex protein 1 (ELP1) are the most prevalent predisposing genetic events in childhood medulloblastoma (MB), accounting for ~30% of the Sonic Hedgehog (SHH) 3 subtype. The underlying mechanism(s) by which germline ELP1 deficiency provokes SHH-M...
ORGANISM(S): Mus musculus (Mouse) 
2025-04-11 | PXD050487 | Pride
Medulloblastoma Shh-3 mb P53 signaling Tumor predisposition Gnp Elp1 
GenomicsGermline ELP1 deficiency sensitizes cerebellar granule neuron progenitors to SHH medulloblastoma [bulkRNA]
Germline ELP1 deficiency sensitizes cerebellar granule neuron progenitors to SHH medulloblastoma [bulkRNA]
PRJNA1082362 | ENA
GenomicsELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia
ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia
PRJNA521159 | ENA
UnknownExon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Not available
S-EPMC6030917 | biostudies-literature
UnknownElp1 facilitates RAD51-mediated homologous recombination repair via translational regulation.
Not available
S-EPMC8613991 | biostudies-literature
GenomicsNext Generation Sequencing Facilitates Quantitative Analysis of Wild Type (WT), AAG-/-, and ELP1-/- Transcriptomes
Next Generation Sequencing Facilitates Quantitative Analysis of Wild Type (WT), AAG-/-, and ELP1-/- Transcriptomes
PRJNA529694 | ENA
GenomicsGenetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target
Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target
PRJNA1082636 | ENA
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