References analysis of the Wikipedia article "Congenital disorder of glycosylation" in the English version

doi.org

Jaeken J, Carchon H (1993). "The carbohydrate-deficient glycoprotein syndromes: an overview". Journal of Inherited Metabolic Disease. 16 (5): 813–20. doi:10.1007/bf00714272. PMID 8295395. S2CID 10219089.

Schollen, E.; Pardon, E.; Heykants, L.; Renard, J.; Doggett, N.A.; Callen, D.F.; Cassiman, J.J.; Mathijs, G. (1998). "Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene". Human Molecular Genetics. 7 (2): 157–164. doi:10.1093/hmg/7.2.157. PMID 9425221.

Paprocka, J.; Jezela-Stanek, A.; Tylki-Szyma´nska, A.; Grunewald, S. (2021). "Congenital Disorders of Glycosylation from a Neurological Perspective". Brain Sciences. 11 (88): 88. doi:10.3390/brainsci11010088. PMC 7827962. PMID 33440761.

Castiglioni, C.; Feillet, F.; Barnerias, C.; Wiedemann, A.; Muchart, J.; Cortes, F.; Hernando-Davalillo, C.; Montero, R.; Dupré, T.; Bruneel, N.; Seta, N.; Vuillaumier-Barrot, S.; Serrano, M. (2021). "Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications". Human Mutation. 42 (2): 142–149. doi:10.1002/humu.24151. PMID 33300232. S2CID 228087106.

Jensen H, Kjaergaard S, Klie F, Moller HU (June 2003). "Ophthalmic manifestations of congenital disorder of glycosylation type 1a". Ophthalmic Genetics. 24 (2): 81–8. doi:10.1076/opge.24.2.81.13994. PMID 12789572. S2CID 29341185.

Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH (July 2005). "Congenital disorder of glycosylation is presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia". The Journal of Clinical Endocrinology and Metabolism. 90 (7): 4371–5. doi:10.1210/jc.2005-0250. PMID 15840742.

Freeze HH, Eklund EA, Ng BG, Patterson MC (May 2012). "Neurology of inherited glycosylation disorders". The Lancet. Neurology. 11 (5): 453–66. doi:10.1016/S1474-4422(12)70040-6. PMC 3625645. PMID 22516080.

Marquardt, T.; Brune, T.; Luhn, K.; Zimmer, K.; Korner, C.; Fabritz, L.; van der Werft, N.; Vormoor, J.; Freeze, H.H.; Louwen, F.; Bierman, B.; Harms, E.; von Figura, K.; Vestweber, D.; Koch, H.G. (1999). "Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism". The Journal of Pediatrics. 134 (6): 681–688. doi:10.1016/S0022-3476(99)70281-7. PMC 7095022. PMID 10356134.

Breitling, J.; Aebi, M. (2013). "N-Linked Protein Glycosylation in the Endoplasmic Reticulum". Cold Spring Harbor Perspectives in Biology. 5 (8): a013359. doi:10.1101/cshperspect.a013359. PMC 3721281. PMID 23751184.

Jaeken, Jaak (2016). "Glycosylation and its Disorders: General Overview☆". Reference Module in Biomedical Sciences. doi:10.1016/B978-0-12-801238-3.04632-8. ISBN 9780128012383.

Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Peričak-Vance MA (February 2011). "Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa". American Journal of Human Genetics. 88 (2): 201–6. doi:10.1016/j.ajhg.2011.01.001. PMC 3035708. PMID 21295283.

Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG (2010). "SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder". Cell. 142 (2): 203–17. doi:10.1016/j.cell.2010.06.001. PMC 2940322. PMID 20637498.

Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T (March 2007). "A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy". American Journal of Human Genetics. 80 (3): 433–40. doi:10.1086/512130. PMC 1821118. PMID 17273964.

Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH (August 2003). "Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij". Human Mutation. 22 (2): 144–50. doi:10.1002/humu.10239. PMID 12872255. S2CID 35331823.

Grubenmann CE, Frank CG, Hülsmeier AJ, Schollen E, Matthijs G, Mayatepek E, Berger EG, Aebi M, Hennet T (March 2004). "Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik". Human Molecular Genetics. 13 (5): 535–42. doi:10.1093/hmg/ddh050. hdl:20.500.11850/51881. PMID 14709599.

Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschütter A, von Figura K, Lehle L, Körner C (June 2003). "A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis". The Journal of Biological Chemistry. 278 (25): 22498–505. doi:10.1074/jbc.m302850200. PMID 12684507.

Rind N, Schmeiser V, Thiel C, Absmanner B, Lübbehusen J, Hocks J, Apeshiotis N, Wilichowski E, Lehle L, Körner C (April 2010). "A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip". Human Molecular Genetics. 19 (8): 1413–24. doi:10.1093/hmg/ddq016. PMID 20080937.

Vleugels W, Haeuptle MA, Ng BG, Michalski JC, Battini R, Dionisi-Vici C, Ludman MD, Jaeken J, Foulquier F, Freeze HH, Matthijs G, Hennet T (October 2009). "RFT1 deficiency in three novel CDG patients". Human Mutation. 30 (10): 1428–34. doi:10.1002/humu.21085. PMC 3869400. PMID 19701946.

Körner C, Knauer R, Stephani U, Marquardt T, Lehle L, von Figura K (December 1999). "Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase". The EMBO Journal. 18 (23): 6816–22. doi:10.1093/emboj/18.23.6816. PMC 1171744. PMID 10581255.

Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T (July 2004). "Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL". American Journal of Human Genetics. 75 (1): 146–50. doi:10.1086/422367. PMC 1181998. PMID 15148656.

Chantret I, Dupré T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE (July 2002). "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase". The Journal of Biological Chemistry. 277 (28): 25815–22. doi:10.1074/jbc.m203285200. PMID 11983712.

Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K (1998). "Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase". Proceedings of the National Academy of Sciences of the United States of America. 95 (22): 13200–5. Bibcode:1998PNAS...9513200K. doi:10.1073/pnas.95.22.13200. PMC 23759. PMID 9789065.

Chantret I, Dancourt J, Dupré T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE (March 2003). "A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation". The Journal of Biological Chemistry. 278 (11): 9962–71. doi:10.1074/jbc.m211950200. PMID 12480927.

Kranz C, Denecke J, Lehrman MA, Ray S, Kienz P, Kreissel G, Sagi D, Peter-Katalinic J, Freeze HH, Schmid T, Jackowski-Dohrmann S, Harms E, Marquardt T (2001). "A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)". The Journal of Clinical Investigation. 108 (11): 1613–9. doi:10.1172/JCI13635. PMC 200991. PMID 11733556.

Niehues R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T (1998). "Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy". The Journal of Clinical Investigation. 101 (7): 1414–20. doi:10.1172/JCI2350. PMC 508719. PMID 9525984.

Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (May 1997). "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)". Nature Genetics. 16 (1): 88–92. doi:10.1038/ng0597-88. PMID 9140401. S2CID 22959423.

Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA (July 2009). "Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies". American Journal of Human Genetics. 85 (1): 76–86. doi:10.1016/j.ajhg.2009.06.006. PMC 2706967. PMID 19576565.

Freeze, H.H. (2013). "Understanding human glycosylation disorders: biochemistry leads the charge". The Journal of Biological Chemistry. 288 (10): 6936–6945. doi:10.1074/jbc.R112.429274. PMC 3591604. PMID 23329837.

Schachter, H. (1984). "Glycoproteins: their structure, biosynthesis and possible clinical implications". Clinical Biochemistry. 17 (1): 3–14. doi:10.1016/S0009-9120(84)90360-6. PMID 6368044.

Jaeken, J. (2013). "Congenital disorders of glycosylation". Pediatric Neurology Part III. Handbook of Clinical Neurology. Vol. 113. pp. 1737–43. doi:10.1016/B978-0-444-59565-2.00044-7. ISBN 978-0-444-59565-2. PMID 23622397.

Freeze, H.H. (2007). "Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond". Current Molecular Medicine. 4 (7): 389–96. doi:10.2174/156652407780831548. PMID 17584079.

Ondruskova, N.; Cechova, A.; Hansikova, H.; Honzik, T.; Jaeken, J. (2020). "Congenital Disorders of Glycosylation: Still "hot" in 2020". General Subjects. 1865 (2021): 129751. doi:10.1016/j.bbagen.2020.129751. PMID 32991969. S2CID 222159507.

Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S (January 2008). "Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2". Nature Genetics. 40 (1): 32–4. doi:10.1038/ng.2007.45. PMID 18157129. S2CID 23318808.

Yang, A.; Ng, B.; Moore, S.A.; Rush, J.; Waechter, C.J.; Raymond, K.M.; Willer, T.; Campbell, K.P.; Freeze, H.H.; Mehta, L. (2013). "Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy". Mol Genet Metab. 110 (3): 345–351. doi:10.1016/j.ymgme.2013.06.016. PMC 3800268. PMID 23856421.

Amberger J, Bocchini C, Hamosh A (May 2011). "A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)". Human Mutation. 32 (5): 564–7. doi:10.1002/humu.21466. PMID 21472891.

Jaeken, J.; Hennet, T.; Mtthijs, G.; Freeze, H.H. (2009). "CDG Nomenclature: Time for a Change". Biochim Biophys Acta. 1792 (9): 825–826. doi:10.1016/j.bbadis.2009.08.005. PMC 3917312. PMID 19765534.

Mention K, Lacaille F, Valayannopoulos V, Romano S, Kuster A, Cretz M, Zaidan H, Galmiche L, Jaubert F, de Keyzer Y, Seta N, de Lonlay P (2008). "Development of liver disease despite mannose treatment in two patients with CDG-Ib". Molecular Genetics and Metabolism. 93 (1): 40–3. doi:10.1016/j.ymgme.2007.08.126. PMID 17945525.

Westphal V, Kjaergaard S, Davis JA, Peterson SM, Skovby F, Freeze HH (2001). "Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation". Molecular Genetics and Metabolism. 73 (1): 77–85. doi:10.1006/mgme.2001.3161. PMID 11350186.

Eklund EA, Freeze HH (2006). "The congenital disorders of glycosylation: a multifaceted group of syndromes". NeuroRx. 3 (2): 254–63. doi:10.1016/j.nurx.2006.01.012. PMC 3593443. PMID 16554263.

Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G (1994). "Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II". Archives of Disease in Childhood. 71 (2): 123–7. doi:10.1136/adc.71.2.123. PMC 1029941. PMID 7944531.

Schaftingen, E.V.; Jaeken, J. (1995). "Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I". FEBS Letters. 377 (3): 318–320. Bibcode:1995FEBSL.377..318V. doi:10.1016/0014-5793(95)01357-1. PMID 8549746. S2CID 321749.

Haeuptle MA, Hennet T (2009). "Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides" (PDF). Human Mutation. 30 (12): 1628–41. doi:10.1002/humu.21126. PMID 19862844. S2CID 46281092. Archived from the original (PDF) on 2021-05-18. Retrieved 2019-12-13.

Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB (June 2012). "Clinical application of exome sequencing in undiagnosed genetic conditions". Journal of Medical Genetics. 49 (6): 353–61. doi:10.1136/jmedgenet-2012-100819. PMC 3375064. PMID 22581936.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, et al. (October 2014). "Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway". Genetics in Medicine. 16 (10): 751–8. doi:10.1038/gim.2014.22. PMC 4243708. PMID 24651605.

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Schachter, H. (1984). "Glycoproteins: their structure, biosynthesis and possible clinical implications". Clinical Biochemistry. 17 (1): 3–14. doi:10.1016/S0009-9120(84)90360-6. PMID 6368044.

Freeze, H.H. (2007). "Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond". Current Molecular Medicine. 4 (7): 389–96. doi:10.2174/156652407780831548. PMID 17584079.

Eklund EA, Freeze HH (2006). "The congenital disorders of glycosylation: a multifaceted group of syndromes". NeuroRx. 3 (2): 254–63. doi:10.1016/j.nurx.2006.01.012. PMC 3593443. PMID 16554263.

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Congenital disorder of glycosylation (English Wikipedia)

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