Our study thus broadly confirms the correlation of ELAC2 variants with severe infantile-onset forms of HCM and mitochondrial respiratory chain dysfunction.
results indicate that ELAC2 functions as a tRNase Z in human mitochondria and suggest that mt-tRNase Z preferentially cleaves molecules already processed by the proteinaceous mtRNase P
Data describe polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in an Indian population; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Our findings corroborate the involvement of ELAC2 MSR1 and RNASEL in the etiology of prostate cancer even in individuals without a family history; Observational study of gene-disease association gene-gene interaction and gene-environment interaction. (HuGE Navigator)
The findings reveal that 3' end processing is a limiting step for defective tRNA maturation and demonstrate that overexpression of ELAC2 can promote defective tRNA 3' processing in vivo.
HPC2/ELAC2 and RNASEL may play a role however minor in prostate cancer risk among African American men; Observational study of gene-disease association. (HuGE Navigator)
Changes in K(M) observed with some of the substitutions suggest contacts between tRNase Z and substrate tRNA in this region and changes in tRNA structure provide an additional basis for interpretation of the kinetic effects.[tRNase Z]
The oncogenic role of HPC2 in human primary breast carcinomas is determined by its capacity to inhibit INK4a/ARF proteins(p16INK4a p14ARF or h-TERT) or to induce telomerase activity.
Associated with CANCER: prostate cancer., Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator); Single nucleotide polymorphisms associated with hereditary prostate cancer.
Associated with CANCER: prostate cancer., Observational study and meta-analysis of gene-disease association and gene-environment interaction. (HuGE Navigator)
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