{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T22:09:36Z","timestamp":1778623776095,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,6,21]],"date-time":"2019-06-21T00:00:00Z","timestamp":1561075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["FP00096621"],"award-info":[{"award-number":["FP00096621"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["S10 RR027506\u201001"],"award-info":[{"award-number":["S10 RR027506\u201001"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Patients with phosphoglucomutase (PGM1) deficiency, a congenital disorder of glycosylation (CDG) suffer from multiple disease phenotypes. Midline cleft defects are present at birth. Overtime, additional clinical phenotypes, which include severe hypoglycemia, hepatopathy, growth retardation, hormonal deficiencies, hemostatic anomalies, frequently lethal, early\u2010onset of dilated cardiomyopathy and myopathy emerge, reflecting the central roles of the enzyme in (glycogen) metabolism and glycosylation. To delineate the pathophysiology of the tissue\u2010specific disease phenotypes, we constructed a constitutive <jats:italic>Pgm2<\/jats:italic> (mouse ortholog of human <jats:italic>PGM1<\/jats:italic>)\u2010knockout (KO) mouse model using CRISPR\u2010Cas9 technology. After multiple crosses between heterozygous parents, we were unable to identify homozygous life births in 78 newborn pups (<jats:italic>P<\/jats:italic> = 1.59897E\u201006), suggesting an embryonic lethality phenotype in the homozygotes. Ultrasound studies of the course of pregnancy confirmed Pgm2\u2010deficient pups succumb before E9.5. Oral galactose supplementation (9 mg\/mL drinking water) did not rescue the lethality. Biochemical studies of tissues and skin fibroblasts harvested from heterozygous animals confirmed reduced Pgm2 enzyme activity and abundance, but no change in glycogen content. However, glycomics analyses in serum revealed an abnormal glycosylation pattern in the <jats:italic>Pgm2<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup> animals, similar to that seen in PGM1\u2010CDG.<\/jats:p>","DOI":"10.1002\/jimd.12110","type":"journal-article","created":{"date-parts":[[2019,5,11]],"date-time":"2019-05-11T13:47:17Z","timestamp":1557582437000},"page":"998-1007","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["A novel phosphoglucomutase\u2010deficient mouse model reveals aberrant glycosylation and early embryonic lethality"],"prefix":"10.1002","volume":"42","author":[{"given":"Bijina","family":"Balakrishnan","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Verheijen","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Department of Clinical Genomics, and Biochemical Genetics Laboratory Mayo Clinic  Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arielle","family":"Lupo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimiyo","family":"Raymond","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Department of Clinical Genomics, and Biochemical Genetics Laboratory Mayo Clinic  Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Coleman","family":"Turgeon","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Department of Clinical Genomics, and Biochemical Genetics Laboratory Mayo Clinic  Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yueqin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kandis L.","family":"Carter","sequence":"additional","affiliation":[{"name":"Small Animal Ultrasound Core Facility University of Utah School of Medicine  Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin J.","family":"Whitehead","sequence":"additional","affiliation":[{"name":"Small Animal Ultrasound Core Facility University of Utah School of Medicine  Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamas","family":"Kozicz","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Department of Clinical Genomics, and Biochemical Genetics Laboratory Mayo Clinic  Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Department of Clinical Genomics, and Biochemical Genetics Laboratory Mayo Clinic  Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2377-9905","authenticated-orcid":false,"given":"Kent","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,6,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9757-9"},{"key":"e_1_2_9_3_1","first-page":"137","article-title":"Glycogen storage disease\u2010like phenotype with central nervous system involvement in a PGM1\u2010CDG patient","volume":"35","author":"Ondruskova N","year":"2014","journal-title":"Neuroendocrinol Lett"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.01.014"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9299-3"},{"key":"e_1_2_9_6_1","first-page":"87","article-title":"A case with rare type of congenital disorder of glycosylation: Pgm1\u2010Cdg","volume":"26","author":"Kucukcongar A","year":"2015","journal-title":"Genet 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