
NCBI . NLM . NIH . GOV {
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Title[redir]:
MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast - PMC
Description:
We report three families presenting with hypertrophic cardiomyopathy, lactic acidosis, and multiple defects of mitochondrial respiratory chain (MRC) activities. By direct sequencing of the candidate gene MTO1, encoding the mitochondrial-tRNA ...
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Keywords {🔍}
mto, doi, mitochondrial, mutant, yeast, google, scholar, pubmed, mutations, cardiomyopathy, respiratory, strain, hypertrophic, patients, civ, lactic, activity, human, ghezzi, mutation, gida, pmc, trna, structure, article, fig, analysis, acidosis, role, protein, cells, mtoti, mtorh, deficiency, pathogenic, synthesis, study, cytochrome, growth, fibroblasts, clinical, translation, present, chain, mrc, predicted, biochemical, allele, table, tepidum,
Topics {✒️}
α/β fad-binding domain pmc beta search subjects showed early-onset wolff–parkinson–white syndrome org/pdb/home/home c1477–g1583 base pairing prevent codon-anticodon pairing mitochondrial-enriched fraction prepared specific genotype/phenotype correlation early-onset cardiac hypertrophy [google scholar] fontanesi consistent genotype/phenotype correlation supplementary materials humu0034-1501-sd1 cognate aminoacyltransferase [krüger adjacent amino-acid residue c-terminal domain mitochondrial-trna modifier mto1 diffusely abnormal signal functional f1f0-atp synthase combined civ + ciii deficiency early-onset hypertrophic cardiomyopathy cold spring harbor ci–ciii activities detected defective ci + civ activities cardiac involvement [vasta combined ci + civ deficiency sequence–structure–function analysis seahorse microscale oxygraphy pdb id 3cp8 single allelic variants single-stranded hypermodified nucleoside mnm5s2u trna anticodon stabilize paromomycin-resistant mutants mitochondrial trnas specific mto1 fragment [ho culturing conditions increase 3/v5-topo vector detected radiolabeled bands mitochondrial protein synthesis recombinant yeast model global protein synthesis mitochondrial gene products mitochondrial-trna modifier 1 gene ontology score mitochondrial protein required δmto1 pr strain site-directed mutagenesis pmc disclaimer license information pmcid
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- How much does https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/%4038.9959508, -77.101021,17z/data%3D!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb%3A0x19156f88b27635b8!8m2!3d38.9959508! 4d-77.0988323 generate monthly?
- What's https://www.nlm.nih.gov/web_policies.html's gross income?
- What's the financial outcome of https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office?
- See how much https://www.hhs.gov/vulnerability-disclosure-policy/index.html makes per month
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- What's the income of https://www.hhs.gov/?
- Income figures for https://www.usa.gov/
Analytics and Tracking {📊}
- Google Analytics
- Google Analytics 4
- Google Tag Manager
Libraries {📚}
- jQuery
- jQuery module (jquery-3.6.0)
- Zoom.js
Emails and Hosting {✉️}
Mail Servers:
- nihcesxway.hub.nih.gov
- nihcesxway2.hub.nih.gov
- nihcesxway3.hub.nih.gov
- nihcesxway4.hub.nih.gov
- nihcesxway5.hub.nih.gov
Name Servers:
- dns1-ncbi.ncbi.nlm.nih.gov
- dns2-ncbi.ncbi.nlm.nih.gov
- lhcns1.nlm.nih.gov
- lhcns2.nlm.nih.gov
CDN Services {📦}
- Ncbi