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Property "Has-20abstract" (as page type) with input value "TIMM50-20is-20an-20essential-20component-20of-20the-20TIM23-20complex,-20the-20mitochondrial-20inner-20membrane-20machinery-20that-20imports-20cytosolic-20proteins-20containing-20a-20mitochondrial-20targeting-20presequence-20into-20the-20mitochondrial-20inner-20compartment.-20Whole-20exome-20sequencing-20(WES)-20identified-20compound-20heterozygous-20pathogenic-20mutations-20in-20TIMM50-20in-20an-20infant-20patient-20with-20rapidly-20progressive,-20severe-20encephalopathy.-20Patient-20fibroblasts-20presented-20low-20levels-20of-20TIMM50-20and-20other-20components-20of-20the-20TIM23-20complex,-20lower-20mitochondrial-20membrane-20potential,-20and-20impaired-20TIM23-2Ddependent-20protein-20import.-20As-20a-20consequence,-20steady-2Dstate-20levels-20of-20several-20components-20of-20mitochondrial-20respiratory-20chain-20were-20decreased,-20resulting-20in-20decreased-20respiration-20and-20increased-20ROS-20production.-20Growth-20of-20patient-20fibroblasts-20in-20galactose-20shifted-20energy-20production-20metabolism-20toward-20oxidative-20phosphorylation-20(OxPhos),-20producing-20an-20apparent-20improvement-20in-20most-20of-20the-20above-20features-20but-20also-20increased-20apoptosis.-20Complementation-20of-20patient-20fibroblasts-20with-20TIMM50-20improved-20or-20restored-20these-20features-20to-20control-20levels.-20Moreover,-20-27-27RNASEH1-27-27-20and-20-27-27ISCU-27-27-20mutant-20fibroblasts-20only-20shared-20a-20few-20of-20these-20features-20with-20-27-27TIMM50-27-27-20mutant-20fibroblasts.-20Our-20results-20indicate-20that-20mutations-20in-20-27-27TIMM50-27-27-20cause-20multiple-20mitochondrial-20bioenergetic-20dysfunction-20and-20that-20functional-20TIMM50-20is-20essential-20for-20cell-20survival-20in-20OxPhos-2Ddependent-20conditions." contains invalid characters or is incomplete and therefore can cause unexpected results during a query or annotation process.

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