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UnknownCompound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.
Not available
S-EPMC10101692 | biostudies-literature
UnknownEMC1-dependent stabilization drives membrane penetration of a partially destabilized non-enveloped virus.
Not available
S-EPMC5224922 | biostudies-literature
UnknownEMC1 Is Required for the Sarcoplasmic Reticulum and Mitochondrial Functions in the <i>Drosophila</i> Muscle.
Not available
S-EPMC11506464 | biostudies-literature
UnknownDe novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Not available
S-EPMC9523557 | biostudies-literature
UnknownMonoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Not available
S-EPMC4800043 | biostudies-literature
GenomicsHomo sapiens
Non-silent synonymous exonic mutationc.2376G>A (p.Val792=) in EMC1
PRJNA934148 | ENA
UnknownDefective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy.
Not available
S-EPMC10404869 | biostudies-literature
Proteomicsemc1_Marquez - Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects
Experiment consisted of MO knockdown of emc1 in Xenopus and comparison of proteome in emc1 depleted stage 24 embryos vs MO control injected embryos.
ORGANISM(S): Xenopus tropicalis 
2020-01-09 | PXD012770 | Pride
Emc1 Xenopus tropicalis 
UnknownA novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
Not available
S-EPMC5902391 | biostudies-literature
UnknownNovel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation.
Not available
S-EPMC10175691 | biostudies-literature
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