{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:33:03Z","timestamp":1778545983048,"version":"3.51.4"},"reference-count":28,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T00:00:00Z","timestamp":1718668800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","award":["19TPA34850100"],"award-info":[{"award-number":["19TPA34850100"]}],"id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["HL116729"],"award-info":[{"award-number":["HL116729"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["HL138023"],"award-info":[{"award-number":["HL138023"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>\n                    Obg-like ATPase 1 (OLA1) protein has GTP and ATP hydrolyzing activities and is important for cellular growth and survival. The human\n                    <jats:italic>OLA1<\/jats:italic>\n                    gene maps to chromosome 2 (locus 2q31.1), near\n                    <jats:italic>Titin<\/jats:italic>\n                    (\n                    <jats:italic>TTN<\/jats:italic>\n                    ), which is associated with familial dilated cardiomyopathy (DCM). In this study, we found that expression of OLA1 was significantly downregulated in failing human heart tissue (HF) compared to non-failing hearts (NF). Using the Sanger sequencing method, we characterized the human\n                    <jats:italic>OLA1<\/jats:italic>\n                    gene and screened for mutations in the\n                    <jats:italic>OLA1<\/jats:italic>\n                    gene in patients with failing and non-failing hearts. Among failing and non-failing heart patients, we found 15 different mutations in the\n                    <jats:italic>OLA1<\/jats:italic>\n                    gene, including two transversions, one substitution, one deletion, and eleven transitions. All mutations were intronic except for a non-synonymous 5144A&gt;G, resulting in 254Tyr&gt;Cys in exon 8 of the\n                    <jats:italic>OLA1<\/jats:italic>\n                    gene. Furthermore, haplotype analysis of these mutations revealed that these single nucleotide polymorphisms (SNPs) are linked to each other, resulting in disease-specific haplotypes. Additionally, to screen the 254Tyr&gt;Cys point mutation, we developed a cost-effective, rapid genetic screening PCR test that can differentiate between homozygous (AA and GG) and heterozygous (A\/G) genotypes. Our results demonstrate that this PCR test can effectively screen for OLA1 mutation-associated cardiomyopathy in human patients using easily accessible cells or tissues, such as blood cells. These findings have important implications for the diagnosis and treatment of cardiomyopathy.\n                  <\/jats:p>","DOI":"10.1371\/journal.pone.0293105","type":"journal-article","created":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T13:25:48Z","timestamp":1718717148000},"page":"e0293105","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification and development of Tetra-ARMS PCR-based screening test for a genetic variant of OLA1 (Tyr254Cys) in the human failing heart"],"prefix":"10.1371","volume":"19","author":[{"given":"Praveen K.","family":"Dubey","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shubham","family":"Dubey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarojini","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Purnima Devaki","family":"Bhat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Pogwizd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4842-6364","authenticated-orcid":true,"given":"Prasanna","family":"Krishnamurthy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2024,6,18]]},"reference":[{"key":"pone.0293105.ref001","doi-asserted-by":"crossref","first-page":"19928","DOI":"10.1074\/jbc.M700541200","article-title":"Human OLA1 Defines an ATPase Subfamily in the Obg Family of GTP-binding Proteins*","volume":"282","author":"R. Koller-Eichhorn","year":"2007","journal-title":"J. Biol. Chem"},{"key":"pone.0293105.ref002","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1186\/s12885-022-09508-1","article-title":"OLA1 promotes colorectal cancer tumorigenesis by activation of HIF1\u03b1\/CA9 axis","volume":"22","author":"Y. Liu","year":"2022","journal-title":"BMC Cancer"},{"key":"pone.0293105.ref003","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.molcel.2013.10.028","article-title":"The BRCA1\/BARD1-Interacting Protein OLA1 Functions in Centrosome Regulation","volume":"53","author":"A. Matsuzawa","year":"2014","journal-title":"Mol. Cell"},{"key":"pone.0293105.ref004","doi-asserted-by":"crossref","first-page":"2568","DOI":"10.1128\/MCB.00137-16","article-title":"OLA1, a Translational Regulator of p21, Maintains Optimal Cell Proliferation Necessary for Developmental Progression","volume":"36","author":"Z. Ding","year":"2016","journal-title":"Mol. Cell. 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