{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:31:36Z","timestamp":1747186296898,"version":"3.40.5"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,2,6]],"date-time":"2019-02-06T00:00:00Z","timestamp":1549411200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Medical Primatology"],"published-print":{"date-parts":[[2019,6]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Nonketotic hyperglycinemia (NKH<\/jats:styled-content>) is a rare metabolic disorder that is characterized by high levels of glycine in plasma and cerebrospinal fluid in humans. In this study, total congenital cataract captive\u2010bred Vervet monkeys (Chlorocebus aethiops<\/jats:italic>) that are hyperglycinemic were screened to identify mutations in Bola type 3 (BOLA<\/jats:styled-content>3<\/jats:italic>), glutaredoxin 5 (GLRX<\/jats:styled-content>5<\/jats:italic>), and lipoate synthase (LIAS<\/jats:styled-content><\/jats:italic>) genes.<\/jats:p><\/jats:sec>Methods<\/jats:title>Twenty\u2010four Vervet monkeys (12 hyperglycinemic and 12 healthy controls) were selected for mutation analysis using polymerase chain reaction (PCR<\/jats:styled-content>), Sanger sequencing, and reverse transcriptase\u2010polymerase chain reaction (RT<\/jats:styled-content>\u2010PCR<\/jats:styled-content>).<\/jats:p><\/jats:sec>Results<\/jats:title>Novel sequence variants were identified in BOLA<\/jats:styled-content>3<\/jats:italic> (R23H and Q38R) and LIAS<\/jats:styled-content><\/jats:italic> (R369I and A371A), and gene expression in the control group was significantly lower compared to the hyperglycinemic group (P<\/jats:italic>\u00a0<\u00a00.05).<\/jats:p><\/jats:sec>Conclusion<\/jats:title>The data obtained from this study will contribute to generation of new knowledge regarding the involvement of these genes in NKH<\/jats:styled-content> development.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jmp.12400","type":"journal-article","created":{"date-parts":[[2019,2,6]],"date-time":"2019-02-06T12:25:18Z","timestamp":1549455918000},"page":"161-165","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Nonketotic hyperglycinemia in captive\u2010bred Vervet monkeys (Chlorocebus aethiops<\/i>) with cataracts"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2255-7323","authenticated-orcid":false,"given":"Sanele","family":"Khoza","sequence":"first","affiliation":[{"name":"Primate Unit and Delft Animal Centre (PUDAC) South African Medical Research Council Cape Town South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thobile","family":"Ngqaneka","sequence":"additional","affiliation":[{"name":"Primate Unit and Delft Animal Centre (PUDAC) South African Medical Research Council Cape Town South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zandisiwe Emilia","family":"Magwebu","sequence":"additional","affiliation":[{"name":"Primate Unit and Delft Animal Centre (PUDAC) South African Medical Research Council Cape Town South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chesa Gift","family":"Chauke","sequence":"additional","affiliation":[{"name":"Primate Unit and Delft Animal Centre (PUDAC) South African Medical Research Council Cape Town South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,2,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.07.016"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.09.004"},{"key":"e_1_2_6_4_1","first-page":"136","article-title":"Late onset non\u2010ketotic hyperglycinemia\u2013a rare presentation in children","volume":"27","author":"Ayub A","year":"2016","journal-title":"Pakistan J Pathol"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M409672200"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.4103\/1817-1745.174445"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2015.10.008"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.3126\/jnps.v36i3.16047"},{"key":"e_1_2_6_9_1","first-page":"e142","article-title":"Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. 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