{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:28:46Z","timestamp":1791275326184,"version":"4.1.0"},"reference-count":88,"publisher":"The Company of Biologists","issue":"5","license":[{"start":{"date-parts":[[2020,9,4]],"date-time":"2020-09-04T00:00:00Z","timestamp":1599177600000},"content-version":"vor","delay-in-days":1587,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["MH096832"],"award-info":[{"award-number":["MH096832"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5F31NS084622"],"award-info":[{"award-number":["5F31NS084622"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Congenital disorders of glycosylation (CDGs) constitute a rapidly growing family of human diseases resulting from heritable mutations in genes driving the production and modification of glycoproteins. The resulting symptomatic hypoglycosylation causes multisystemic defects that include severe neurological impairments, revealing a particularly critical requirement for tightly regulated glycosylation in the nervous system. The most common CDG, CDG-Ia (PMM2-CDG), arises from phosphomannomutase type 2 (PMM2) mutations. Here, we report the generation and characterization of the first Drosophila CDG-Ia model. CRISPR-generated pmm2-null Drosophila mutants display severely disrupted glycosylation and early lethality, whereas RNAi-targeted knockdown of neuronal PMM2 results in a strong shift in the abundance of pauci-mannose glycan, progressive incoordination and later lethality, closely paralleling human CDG-Ia symptoms of shortened lifespan, movement impairments and defective neural development. Analyses of the well-characterized Drosophila neuromuscular junction (NMJ) reveal synaptic glycosylation loss accompanied by defects in both structural architecture and functional neurotransmission. NMJ synaptogenesis is driven by intercellular signals that traverse an extracellular synaptomatrix and are co-regulated by glycosylation and matrix metalloproteinases (MMPs). Specifically, trans-synaptic signaling by the Wnt protein Wingless (Wg) depends on the heparan sulfate proteoglycan (HSPG) co-receptor Dally-like protein (Dlp), which is regulated by synaptic MMP activity. Loss of synaptic MMP2, Wg ligand, Dlp co-receptor and downstream trans-synaptic signaling occurs with PMM2 knockdown. Taken together, this Drosophila CDG disease model provides a new avenue for the dissection of cellular and molecular mechanisms underlying neurological impairments and is a means by which to discover and test novel therapeutic treatment strategies.<\/jats:p>","DOI":"10.1242\/dmm.022939","type":"journal-article","created":{"date-parts":[[2016,3,3]],"date-time":"2016-03-03T21:23:19Z","timestamp":1457040199000},"page":"513-527","source":"Crossref","is-referenced-by-count":38,"title":["Synaptic roles for phosphomannomutase type 2 in a new\n                    <i>Drosophila<\/i>\n                    congenital disorder of glycosylation disease model"],"prefix":"10.1242","volume":"9","author":[{"given":"William M.","family":"Parkinson","sequence":"first","affiliation":[{"name":"Vanderbilt University 1 Department of Biological Sciences , , Nashville, TN 37235 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Dookwah","sequence":"additional","affiliation":[{"name":"The University of Georgia 2 Department of Biochemistry and Molecular Biology , , Athens, GA 30602 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Lynn","family":"Dear","sequence":"additional","affiliation":[{"name":"Vanderbilt University 1 Department of Biological Sciences , , Nashville, TN 37235 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl L.","family":"Gatto","sequence":"additional","affiliation":[{"name":"Vanderbilt University 1 Department of Biological Sciences , , Nashville, TN 37235 , USA"},{"name":"Kennedy Center for Research on Human Development, Vanderbilt University 3 , Nashville, TN 37235 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Aoki","sequence":"additional","affiliation":[{"name":"Complex Carbohydrate Research Center, The University of Georgia 4 , Athens, GA 30602 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Tiemeyer","sequence":"additional","affiliation":[{"name":"The University of Georgia 2 Department of Biochemistry and Molecular Biology , , Athens, GA 30602 , USA"},{"name":"Complex Carbohydrate Research Center, The University of Georgia 4 , Athens, GA 30602 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendal","family":"Broadie","sequence":"additional","affiliation":[{"name":"Vanderbilt University 1 Department of Biological Sciences , , Nashville, TN 37235 , USA"},{"name":"Kennedy Center for Research on Human Development, Vanderbilt University 3 , Nashville, TN 37235 , USA"},{"name":"Vanderbilt University 5 Department of Cell and Developmental Biology , , Nashville, TN 37235 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","reference":[{"key":"2024061302510721000_DMM022939C1","first-page":"36","article-title":"Image processing with ImageJ","volume":"11","author":"Abramoff","year":"2001","journal-title":"Biophotonics Int."},{"key":"2024061302510721000_DMM022939C2","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1016\/S0300-9084(01)01297-4","article-title":"Genetic model organisms in the study of N-glycans","volume":"83","author":"Altmann","year":"2001","journal-title":"Biochimie"},{"key":"2024061302510721000_DMM022939C3","doi-asserted-by":"publisher","first-page":"34900","DOI":"10.1074\/jbc.M114.586362","article-title":"Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder","volume":"289","author":"Andreotti","year":"2014","journal-title":"J. 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