Title : The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Pub. Date : 2019 Mar

PMID : 30488656






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Treatment of patient cells with MG-132 or staurosporine to induce activation of the intrinsic apoptosis pathway revealed significantly decreased cell viability with increased caspase-3 and caspase-7 activation. benzyloxycarbonylleucyl-leucyl-leucine aldehyde caspase 3 Homo sapiens