{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T16:48:21Z","timestamp":1772556501935,"version":"3.50.1"},"reference-count":29,"publisher":"The Company of Biologists","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"am","delay-in-days":1233,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"crossref","award":["382900"],"award-info":[{"award-number":["382900"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>We have performed a genome-wide ENU mutagenesis screen in mice to identify novel genes or alleles that regulate erythropoiesis. Here we describe a recessive mouse strain, called RBC19, harbouring a point mutation within the housekeeping gene, Tpi1, which encodes for the glycolysis enzyme, triosephosphate isomerase (TPI). A serine in place of a phenylalanine at amino acid 57 severely diminishes enzyme activity in red cells and other tissues, resulting in a macrocytic haemolytic phenotype in homozygous mice that closely resembles human TPI deficiency. A rescue study was performed using bone marrow transplantation of wildtype donor cells, which restored all haematological parameters and increased red cell enzyme function to wildtype levels after 7 weeks. This is the first study performed in a mammalian model of TPI deficiency demonstrating that the haematological phenotype can be rescued.<\/jats:p>","DOI":"10.1242\/dmm.034678","type":"journal-article","created":{"date-parts":[[2018,4,30]],"date-time":"2018-04-30T12:20:36Z","timestamp":1525090836000},"source":"Crossref","is-referenced-by-count":13,"title":["Bone marrow transplantation corrects haemolytic anaemia in novel ENU mutagenesis mouse model of TPI deficiency"],"prefix":"10.1242","author":[{"given":"Ashlee J.","family":"Conway","sequence":"first","affiliation":[{"name":"Australian Centre for Blood Diseases, Central Clinical School, Monash University, Melbourne, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiona C.","family":"Brown","sequence":"additional","affiliation":[{"name":"Australian Centre for Blood Diseases, Central Clinical School, Monash University, Melbourne, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elinor J.","family":"Hortle","sequence":"additional","affiliation":[{"name":"The John Curtin School of Medical Research, Australian National University, Canberra, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaetan","family":"Burgio","sequence":"additional","affiliation":[{"name":"The John Curtin School of Medical Research, Australian National University, Canberra, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon J.","family":"Foote","sequence":"additional","affiliation":[{"name":"The John Curtin School of Medical Research, Australian National University, Canberra, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Craig J.","family":"Morton","sequence":"additional","affiliation":[{"name":"Australian Cancer Research Foundation Rational Drug Discovery Centre, St. Vincent's Institute of Medical Research, Fitzroy, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen M.","family":"Jane","sequence":"additional","affiliation":[{"name":"The Alfred Hospital, Melbourne, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9497-0996","authenticated-orcid":false,"given":"David J.","family":"Curtis","sequence":"additional","affiliation":[{"name":"Australian Centre for Blood Diseases, Central Clinical School, Monash University, Melbourne, Australia"},{"name":"Central Clinical School, Monash University, Melbourne, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[2018,1,1]]},"reference":[{"key":"2021042612370825000_DMM034678C1","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.bbadis.2003.08.002","article-title":"Increased formation of methylglyoxal and protein glycation, oxidation and nitrosation in triosephosphate isomerase deficiency","volume":"1639","author":"Ahmed","year":"2003","journal-title":"Biochim. 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