{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T02:45:48Z","timestamp":1760237148657,"version":"build-2065373602"},"reference-count":40,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,3,1]],"date-time":"2020-03-01T00:00:00Z","timestamp":1583020800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2017R1A2B4012636","2017R1C1B5017807"],"award-info":[{"award-number":["2017R1A2B4012636","2017R1C1B5017807"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>A pathogenic mutation in PSEN1 p.Glu184Gly was discovered in a Thai family with early onset Alzheimer\u2019s disease (EOAD) as the first case in Asia. Proband patient presented memory impairment and anxiety at the age of 41 years. Family history was positive, since several family members were also diagnosed with dementia (father and grandfather). MRI in the patient revealed global cortical atrophy without specific lesions or lacuna infarctions. Extensive genetic profiling for 50 neurodegenerative disease related genes was performed by next generation sequencing (NGS) on the patient. PSEN1 Glu184Gly was previously reported in French families with frontal variant Alzheimer\u2019s disease (AD). Interestingly, this mutation is located near the splicing site and could possibly result in abnormal cleavage of PSEN1 transcript. Furthermore, 3D models from protein structural predictions revealed significant structural changes, since glycine may result in increased flexibility of TM-III helix. Inter\/intra-helical interactions could also be altered. In the future, functional studies should be performed to verify the probable role PSEN1 Glu184Gly in amyloid beta processing and pathogenicity.<\/jats:p>","DOI":"10.3390\/diagnostics10030135","type":"journal-article","created":{"date-parts":[[2020,3,2]],"date-time":"2020-03-02T04:16:16Z","timestamp":1583122576000},"page":"135","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer\u2019s Disease"],"prefix":"10.3390","volume":"10","author":[{"given":"Vorapun","family":"Senanarong","sequence":"first","affiliation":[{"name":"Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University and Thailand, Bangkok 10700, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seong Soo A.","family":"An","sequence":"additional","affiliation":[{"name":"Department of Bionano Technology, Gachon University, Seongnam 13120, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9937-7865","authenticated-orcid":false,"given":"Vo Van","family":"Giau","sequence":"additional","affiliation":[{"name":"Graduate School of Environment Department of Industrial and Environmental Engineering, Gachon University, Seongnam 13120, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chanin","family":"Limwongse","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University and Thailand, Bangkok 10700, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0487-8668","authenticated-orcid":false,"given":"Eva","family":"Bagyinszky","sequence":"additional","affiliation":[{"name":"Graduate School of Environment Department of Industrial and Environmental Engineering, Gachon University, Seongnam 13120, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SangYun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Seoul National University College of Medicine &amp; Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam 13620, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3389\/fnmol.2015.00047","article-title":"Misframed ubiquitin and impaired protein quality control: An early event in Alzheimer\u2019s disease","volume":"8","author":"Gentier","year":"2015","journal-title":"Front. 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