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Quoted phrase not found in phrase index: "Abnormal protein O-linked glycosylation"
Page 1
Glyc-O-genetics of Walker-Warburg syndrome.
van Reeuwijk J, Brunner HG, van Bokhoven H. van Reeuwijk J, et al. Clin Genet. 2005 Apr;67(4):281-9. doi: 10.1111/j.1399-0004.2004.00368.x. Clin Genet. 2005. PMID: 15733261 Review.
In line with the known or proposed functions of the resolved genes, all patients with cobblestone lissencephaly show defects in the O-linked glycosylation of the glycoprotein alpha-dystroglycan. Perhaps, the missing genes underlying the remainder of the unexp …
In line with the known or proposed functions of the resolved genes, all patients with cobblestone lissencephaly show defects in the O …
Role of GALNT2 on Insulin Sensitivity, Lipid Metabolism and Fat Homeostasis.
Antonucci A, Marucci A, Trischitta V, Di Paola R. Antonucci A, et al. Int J Mol Sci. 2022 Jan 15;23(2):929. doi: 10.3390/ijms23020929. Int J Mol Sci. 2022. PMID: 35055114 Free PMC article. Review.
O-linked glycosylation, the greatest form of post-translational modifications, plays a key role in regulating the majority of physiological processes. It is, therefore, not surprising that abnormal O-linked glycosylation has been r …
O-linked glycosylation, the greatest form of post-translational modifications, plays a key role in regulating the major …
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.
PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving oral D-galactose (D-gal) showed clinical improvement. ...In vitro studies before treatment showed N-glycan hy …
PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports …
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. Zilmer M, et al. Brain. 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063. Brain. 2020. PMID: 32293671 Free PMC article.
Congenital disorders of glycosylation are a growing group of rare genetic disorders caused by deficient protein and lipid glycosylation. Here, we report the clinical, biochemical, and molecular features of seven patients from four families with GALNT2- …
Congenital disorders of glycosylation are a growing group of rare genetic disorders caused by deficient protein and lip …
O-linked beta-N-acetylglucosamine (O-GlcNAc): Extensive crosstalk with phosphorylation to regulate signaling and transcription in response to nutrients and stress.
Butkinaree C, Park K, Hart GW. Butkinaree C, et al. Biochim Biophys Acta. 2010 Feb;1800(2):96-106. doi: 10.1016/j.bbagen.2009.07.018. Epub 2009 Aug 6. Biochim Biophys Acta. 2010. PMID: 19647786 Free PMC article. Review.
BACKGROUND: Since its discovery in the early 1980s, O-linked-beta-N-acetylglucosamine (O-GlcNAc), a single sugar modification on the hydroxyl group of serine or threonine residues, has changed our views of protein glycosylation. While other forms of …
BACKGROUND: Since its discovery in the early 1980s, O-linked-beta-N-acetylglucosamine (O-GlcNAc), a single sugar modification …
Defective glycosylation in congenital muscular dystrophies.
Muntoni F, Brockington M, Torelli S, Brown SC. Muntoni F, et al. Curr Opin Neurol. 2004 Apr;17(2):205-9. doi: 10.1097/00019052-200404000-00020. Curr Opin Neurol. 2004. PMID: 15021250 Review.
Abnormal glycosylation of alpha-dystroglycan appears to be a common finding in all these conditions. ...In addition, the clinical variability of patients with mutations in the genes encoding fukutin, protein O-linked mannose beta1,2-N-acetylgluc …
Abnormal glycosylation of alpha-dystroglycan appears to be a common finding in all these conditions. ...In addition, the clini …
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.
Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C. Davids M, et al. J Med Genet. 2016 Mar;53(3):180-9. doi: 10.1136/jmedgenet-2015-103338. Epub 2015 Dec 14. J Med Genet. 2016. PMID: 26668131 Free PMC article.
RESULTS: The patients with INAD had PLA2G6 mutations NM_003560.2: c.[950G>T];[426-1077dup] and c.[1799G>A];[2221C>T] and the patient with dystonia-parkinsonism had PLA2G6 mutations NM_003560.2: c.[609G>A];[2222G>A]. All three patients had altered Golgi morphology a …
RESULTS: The patients with INAD had PLA2G6 mutations NM_003560.2: c.[950G>T];[426-1077dup] and c.[1799G>A];[2221C>T] and the patien …
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Wilson MP, Durin Z, Unal Ö, Ng BG, Marrecau T, Keldermans L, Souche E, Rymen D, Gündüz M, Köse G, Sturiale L, Garozzo D, Freeze HH, Jaeken J, Foulquier F, Matthijs G. Wilson MP, et al. Hum Mol Genet. 2022 Aug 17;31(15):2571-2581. doi: 10.1093/hmg/ddac055. Hum Mol Genet. 2022. PMID: 35262690 Free PMC article.
In order to facilitate correct insertion, the recognition complex (consisting of BAG6, GET4 and UBL4A) must first bind to TA proteins and then to GET3 (TRC40, ASNA1), which chaperones the protein to the ER membrane. ...Biochemically, a combined O-linked …
In order to facilitate correct insertion, the recognition complex (consisting of BAG6, GET4 and UBL4A) must first bind to TA proteins …
Glycosylation Analysis for Congenital Disorders of Glycosylation.
Li X, Raihan MA, Reynoso FJ, He M. Li X, et al. Curr Protoc Hum Genet. 2015 Jul 1;86:17.18.1-17.18.22. doi: 10.1002/0471142905.hg1718s86. Curr Protoc Hum Genet. 2015. PMID: 26132001
Congenital disorders of glycosylation (CDG) are a group of diseases with highly variable phenotypes and inconsistent clinical features. Since the first description of a CDG in 1980, approximately 100 disorders have been identified. Most of these are defects in pr …
Congenital disorders of glycosylation (CDG) are a group of diseases with highly variable phenotypes and inconsistent clinical …
The O-Linked Glycome and Blood Group Antigens ABO on Mucin-Type Glycoproteins in Mucinous and Serous Epithelial Ovarian Tumors.
Vitiazeva V, Kattla JJ, Flowers SA, Lindén SK, Premaratne P, Weijdegård B, Sundfeldt K, Karlsson NG. Vitiazeva V, et al. PLoS One. 2015 Jun 15;10(6):e0130197. doi: 10.1371/journal.pone.0130197. eCollection 2015. PLoS One. 2015. PMID: 26075384 Free PMC article.
BACKGROUND: Mucins are heavily O-glycosylated proteins where the glycosylation has been shown to play an important role in cancer. ...The samples were obtained from patients with serous and mucinous ovarian tumors of different stages (benign, borderline, mali …
BACKGROUND: Mucins are heavily O-glycosylated proteins where the glycosylation has been shown to play an important role …
17 results