{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GALNT17, also known as WBSCR17 because of its location within the Williams‐Beuren syndrome critical region, is a member of the large UDP‐GalNAc:polypeptide N‐acetylgalactosaminyltransferase family responsible for initiating mucin‐type O‐glycosylation. Although its activity toward conventional mucin peptide substrates may be low in vitro, functional studies point to an important regulatory role in modulating cell surface glycosylation. For example, knockdown experiments have demonstrated that reduced GALNT17 expression leads to impaired lamellipodium formation, altered O‐glycan profiles, and increased macropinocytosis—implicating this enzyme in the dynamic control of membrane trafficking and endocytic processes in response to extracellular cues and nutrient levels."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its cell biological functions, genetic analyses have linked GALNT17 to neurodevelopmental regulation. Imprinting and maternal genetic effect studies in autism spectrum disorder cohorts have identified aberrations at the GALNT17 locus, suggesting that dysregulation of its glycosylation activity may contribute to altered neural differentiation and connectivity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Additionally, single nucleotide variants in GALNT17 have been associated with metabolic traits and even with age‐related cataract risk in the context of lactose and galactose metabolism, indicating potential broader metabolic impacts of its function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, by residing in the Williams–Beuren syndrome deletion region, GALNT17 is a candidate for contributing to the complex phenotype seen in this developmental disorder, where deficits in protein glycosylation may affect multiple organ systems."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Collectively, these findings portray GALNT17 as a multifaceted modulator of O‐glycosylation that influences cytoskeletal dynamics, membrane trafficking, neurodevelopment, and metabolic processes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yoshiaki Nakayama, Naosuke Nakamura, Sayoko Oki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M112.370932"}], "href": "https://doi.org/10.1074/jbc.M112.370932"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22787146"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22787146"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Siobhan Connolly, Richard Anney, Louise Gallagher, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2016.153"}], "href": "https://doi.org/10.1038/ejhg.2016.153"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27876814"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27876814"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Donghyun Jee, Suna Kang, Sunmin Park "}, {"type": "b", "children": [{"type": "t", "text": "Association of Age-Related Cataract Risk with High Polygenetic Risk Scores Involved in Galactose-Related Metabolism and Dietary Interactions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Lifestyle Genom (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000521548"}], "href": "https://doi.org/10.1159/000521548"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34954695"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34954695"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Giuseppe Merla, Catherine Ucla, Michel Guipponi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of additional transcripts in the Williams-Beuren syndrome critical region."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-002-0710-x"}], "href": "https://doi.org/10.1007/s00439-002-0710-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12073013"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12073013"}]}]}]}