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For: Ng BG, Freeze HH. Perspectives on Glycosylation and Its Congenital Disorders. Trends Genet 2018;34:466-76. [PMID: 29606283 DOI: 10.1016/j.tig.2018.03.002] [Cited by in Crossref: 108] [Cited by in F6Publishing: 86] [Article Influence: 36.0] [Reference Citation Analysis]
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6 DeRamus ML, Davis SJ, Rao SR, Nyankerh C, Stacks D, Kraft TW, Fliesler SJ, Pittler SJ. Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration. Cells 2020;9:E771. [PMID: 32245241 DOI: 10.3390/cells9030771] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
7 Huang YF, Aoki K, Akase S, Ishihara M, Liu YS, Yang G, Kizuka Y, Mizumoto S, Tiemeyer M, Gao XD, Aoki-Kinoshita KF, Fujita M. Global mapping of glycosylation pathways in human-derived cells. Dev Cell 2021;56:1195-1209.e7. [PMID: 33730547 DOI: 10.1016/j.devcel.2021.02.023] [Cited by in Crossref: 8] [Cited by in F6Publishing: 2] [Article Influence: 8.0] [Reference Citation Analysis]
8 Mealer RG, Jenkins BG, Chen CY, Daly MJ, Ge T, Lehoux S, Marquardt T, Palmer CD, Park JH, Parsons PJ, Sackstein R, Williams SE, Cummings RD, Scolnick EM, Smoller JW. The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation. Sci Rep 2020;10:13162. [PMID: 32753748 DOI: 10.1038/s41598-020-70108-9] [Cited by in Crossref: 14] [Cited by in F6Publishing: 10] [Article Influence: 14.0] [Reference Citation Analysis]
9 Ramachandra Rao S, Skelton LA, Wu F, Onysk A, Spolnik G, Danikiewicz W, Butler MC, Stacks DA, Surmacz L, Mu X, Swiezewska E, Pittler SJ, Fliesler SJ. Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation. iScience 2020;23:101198. [PMID: 32526701 DOI: 10.1016/j.isci.2020.101198] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
10 Wolking AB, Park JH, Grüneberg M, Reunert J, Fingerhut R, Fobker M, Marquardt T. Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples. J Chromatogr B Analyt Technol Biomed Life Sci 2019;1106-1107:64-70. [PMID: 30641270 DOI: 10.1016/j.jchromb.2019.01.004] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
11 Pandey A, Niknejad N, Jafar-Nejad H. Multifaceted regulation of Notch signaling by glycosylation. Glycobiology 2021;31:8-28. [PMID: 32472127 DOI: 10.1093/glycob/cwaa049] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
12 Görlacher M, Panagiotou E, Himmelreich N, Hüllen A, Beedgen L, Dimitrov B, Geiger V, Zielonka M, Peters V, Strahl S, Vázquez-Jiménez J, Kerst G, Thiel C. Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects. Mol Genet Metab Rep 2020;25:100673. [PMID: 33209585 DOI: 10.1016/j.ymgmr.2020.100673] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
13 Yarwood R, Hellicar J, Woodman PG, Lowe M. Membrane trafficking in health and disease. Dis Model Mech 2020;13:dmm043448. [PMID: 32433026 DOI: 10.1242/dmm.043448] [Cited by in Crossref: 18] [Cited by in F6Publishing: 10] [Article Influence: 18.0] [Reference Citation Analysis]
14 Helman G, Sharma S, Crawford J, Patra B, Jain P, Bent SJ, Urtizberea JA, Saran RK, Taft RJ, van der Knaap MS, Simons C. Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome. Neurology 2019;92:e587-93. [PMID: 30635494 DOI: 10.1212/WNL.0000000000006886] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
15 Williams SE, Mealer RG, Scolnick EM, Smoller JW, Cummings RD. Aberrant glycosylation in schizophrenia: a review of 25 years of post-mortem brain studies. Mol Psychiatry 2020;25:3198-207. [PMID: 32404945 DOI: 10.1038/s41380-020-0761-1] [Cited by in Crossref: 14] [Cited by in F6Publishing: 8] [Article Influence: 14.0] [Reference Citation Analysis]
16 Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB. Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review. J Inherit Metab Dis 2020;43:223-33. [PMID: 31420886 DOI: 10.1002/jimd.12162] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 5.5] [Reference Citation Analysis]
17 Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat 2019;40:908-25. [PMID: 30817854 DOI: 10.1002/humu.23731] [Cited by in Crossref: 7] [Cited by in F6Publishing: 13] [Article Influence: 3.5] [Reference Citation Analysis]
18 Ramachandra Rao S, Fliesler SJ, Kotla P, Nguyen MN, Pittler SJ. Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59. Cells 2020;9:E896. [PMID: 32272552 DOI: 10.3390/cells9040896] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
19 Trinchera M, Parini R, Indellicato R, Domenighini R, dall'Olio F. Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation. Mol Genet Metab 2018;124:230-7. [PMID: 29983310 DOI: 10.1016/j.ymgme.2018.06.014] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 6.0] [Reference Citation Analysis]
20 López-Gálvez R, de la Morena-Barrio ME, López-Lera A, Pathak M, Miñano A, Serrano M, Borgel D, Roldán V, Vicente V, Emsley J, Corral J. Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway. Orphanet J Rare Dis 2020;15:280. [PMID: 33036649 DOI: 10.1186/s13023-020-01564-9] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 4.0] [Reference Citation Analysis]
21 Houdou M, Foulquier F. Anomalies congénitales de la glycosylation (CDG): 1980-2020, 40 ans pour comprendre. Med Sci (Paris) 2020;36:735-46. [DOI: 10.1051/medsci/2020128] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
22 Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Craigen WJ, Bearden DR, Graham BH, Freeze HH; Undiagnosed Diseases Network. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet 2018;103:1030-7. [PMID: 30503518 DOI: 10.1016/j.ajhg.2018.10.021] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 2.7] [Reference Citation Analysis]
23 Abuduxikuer K, Wang JS. Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features. Front Genet 2021;12:658786. [PMID: 34122512 DOI: 10.3389/fgene.2021.658786] [Reference Citation Analysis]
24 van Tol W, Wessels H, Lefeber DJ. O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery. Curr Opin Struct Biol 2019;56:107-18. [PMID: 30708323 DOI: 10.1016/j.sbi.2018.12.006] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 6.5] [Reference Citation Analysis]
25 Workman SD, Strynadka NCJ. A Slippery Scaffold: Synthesis and Recycling of the Bacterial Cell Wall Carrier Lipid. J Mol Biol 2020;432:4964-82. [PMID: 32234311 DOI: 10.1016/j.jmb.2020.03.025] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 7.0] [Reference Citation Analysis]
26 Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH; University of Washington Center for Mendelian Genomics. Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation. J Inherit Metab Dis 2019;42:993-7. [PMID: 30945312 DOI: 10.1002/jimd.12091] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
27 Hansen L, Husein DM, Gericke B, Hansen T, Pedersen O, Tambe MA, Freeze HH, Naim HY, Henrissat B, Wandall HH, Clausen H, Bennett EP. A mutation map for human glycoside hydrolase genes. Glycobiology 2020;30:500-15. [PMID: 32039448 DOI: 10.1093/glycob/cwaa010] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
28 Brasil S, Pascoal C, Francisco R, Dos Reis Ferreira V, Videira PA, Valadão AG. Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter? Genes (Basel) 2019;10:E978. [PMID: 31783696 DOI: 10.3390/genes10120978] [Cited by in Crossref: 21] [Cited by in F6Publishing: 11] [Article Influence: 10.5] [Reference Citation Analysis]
29 Lu H, Cherepanova NA, Gilmore R, Contessa JN, Lehrman MA. Targeting STT3A-oligosaccharyltransferase with NGI-1 causes herpes simplex virus 1 dysfunction. FASEB J 2019;33:6801-12. [PMID: 30811219 DOI: 10.1096/fj.201802044RR] [Cited by in Crossref: 2] [Article Influence: 1.0] [Reference Citation Analysis]
30 Chen J, Li X, Edmondson A, Meyers GD, Izumi K, Ackermann AM, Morava E, Ficicioglu C, Bennett MJ, He M. Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry. Clin Chem 2019;65:653-63. [PMID: 30770376 DOI: 10.1373/clinchem.2018.296780] [Cited by in Crossref: 16] [Cited by in F6Publishing: 11] [Article Influence: 8.0] [Reference Citation Analysis]
31 Paprocka J, Jezela-Stanek A, Tylki-Szymańska A, Grunewald S. Congenital Disorders of Glycosylation from a Neurological Perspective. Brain Sci 2021;11:88. [PMID: 33440761 DOI: 10.3390/brainsci11010088] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
32 Ain NU, Baroncelli M, Costantini A, Ishaq T, Taylan F, Nilsson O, Mäkitie O, Naz S. Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1. J Med Genet 2021;58:351-6. [PMID: 32591345 DOI: 10.1136/jmedgenet-2020-106929] [Reference Citation Analysis]
33 Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. Am J Hum Genet 2021;108:722-38. [PMID: 33798445 DOI: 10.1016/j.ajhg.2021.03.013] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
34 Sosicka P, Ng BG, Freeze HH. Therapeutic Monosaccharides: Looking Back, Moving Forward. Biochemistry 2020;59:3064-77. [PMID: 31398011 DOI: 10.1021/acs.biochem.9b00565] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
35 Vaes L, Tiller GE, Pérez B, Boyer SW, Berry SA, Sarafoglou K, Morava E. PMM2-CDG caused by uniparental disomy: Case report and literature review. JIMD Rep 2020;54:16-21. [PMID: 32685345 DOI: 10.1002/jmd2.12122] [Reference Citation Analysis]
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37 Shen J, Jia L, Dang L, Su Y, Zhang J, Xu Y, Zhu B, Chen Z, Wu J, Lan R, Hao Z, Ma C, Zhao T, Gao N, Bai J, Zhi Y, Li J, Zhang J, Sun S. StrucGP: de novo structural sequencing of site-specific N-glycan on glycoproteins using a modularization strategy. Nat Methods 2021;18:921-9. [PMID: 34341581 DOI: 10.1038/s41592-021-01209-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
38 Ugonotti J, Chatterjee S, Thaysen-Andersen M. Structural and functional diversity of neutrophil glycosylation in innate immunity and related disorders. Mol Aspects Med 2021;79:100882. [PMID: 32847678 DOI: 10.1016/j.mam.2020.100882] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
39 Lisnyansky Bar-El M, Lee SY, Ki AY, Kapelushnik N, Loewenstein A, Chung KY, Schneidman-Duhovny D, Giladi M, Newman H, Haitin Y. Structural Characterization of Full-Length Human Dehydrodolichyl Diphosphate Synthase Using an Integrative Computational and Experimental Approach. Biomolecules 2019;9:E660. [PMID: 31661879 DOI: 10.3390/biom9110660] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
40 Rahman J, Rahman S. The utility of phenomics in diagnosis of inherited metabolic disorders. Clin Med (Lond) 2019;19:30-6. [PMID: 30651242 DOI: 10.7861/clinmedicine.19-1-30] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 6.0] [Reference Citation Analysis]
41 Sturiale L, Nassogne MC, Palmigiano A, Messina A, Speciale I, Artuso R, Bertino G, Revencu N, Stephénne X, De Castro C, Matthijs G, Barone R, Jaeken J, Garozzo D. Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis. iScience 2021;24:102323. [PMID: 33889819 DOI: 10.1016/j.isci.2021.102323] [Reference Citation Analysis]
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47 Arora V, Puri RD, Bhai P, Sharma N, Bijarnia-Mahay S, Dimri N, Baijal A, Saxena R, Verma I. The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype. Am J Med Genet A 2019;179:480-5. [PMID: 30690882 DOI: 10.1002/ajmg.a.61030] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [Reference Citation Analysis]
48 Liu HM, Ma LL, Cao B, Lin JZ, Han L, Li CY, Xu RC, Zhang DK. Progress in research into the role of abnormal glycosylation modification in tumor immunity. Immunol Lett 2021;229:8-17. [PMID: 33186635 DOI: 10.1016/j.imlet.2020.11.003] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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52 Lugli L, Bariola MC, Ferri L, Lucaccioni L, Bertucci E, Cattini U, Torcetta F, Morrone A, Iughetti L, Berardi A. Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG. Am J Med Genet A 2021;185:1187-94. [PMID: 33394555 DOI: 10.1002/ajmg.a.62061] [Reference Citation Analysis]
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56 Duan R, Peng C, Sun L, Zhang L, Bai C, Dong L, Wang X. Integrating boronate affinity controllable-oriented surface imprinting nylon wire and pH-triggered allochroic-graphene oxide for ultrasensitive detection of glycoprotein. Sensors and Actuators B: Chemical 2021;330:129310. [DOI: 10.1016/j.snb.2020.129310] [Cited by in Crossref: 7] [Cited by in F6Publishing: 1] [Article Influence: 7.0] [Reference Citation Analysis]
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