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Prior Research

The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is working to provide the best integrated clinical care for congenital disorders of glycosylation (CDG) in the nation so that, from the patient's perspective, the services delivered are consistent and coordinated. The following publications reflect the prior research conducted by these partners that laid the foundation for the work of our consortium.

2019

Balakrishnan B, Verheijen J, Lupo A, Raymond K, Turgeon C, Yang Y, Carter KL, Whitehead KJ, Kozicz T, Morava E, Lai K. A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality. J Inherit Metab Dis. 2019 Sep;42(5):998–1007. doi: 10.1002/jimd.12110. Epub 2019 Jun 21. PMID: 31077402; PMCID: PMC6739163.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 42(1):5–28, 2019. PMID: 30740725.

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 Jul;40(7):908–925. doi: 10.1002/humu.23731. Epub 2019 Apr 24. PMID: 30817854.

Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. Am J Hum Genet. 2019 May 2;104(5):835–846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11. PMID: 30982613; PMCID: PMC6506806.

Verheijen J, Tahata S, Kozicz T, Witters P, Morava E. Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020 Feb;22(2):268–279. doi: 10.1038/s41436-019-0647-2. Epub 2019 Sep 19. PMID: 31534212.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 Oct 4;103(4):553–567. doi: 10.1016/j.ajhg.2018.09.003. PMID: 30290151.

Tim Van Damme, Xiaomeng Pang, Brecht Guillemyn, Sandrine Gulberti, Delfien Syx, Riet De Rycke, Olivier Kaye, Christine E M de Die-Smulders, Rolph Pfundt, Ariana Kariminejad, Sheela Nampoothiri, Geneviève Pierquin, Saskia Bulk, Austin A Larson, Kathryn C Chatfield, Marleen Simon, Anne Legrand, Marion Gerard, Sofie Symoens, Sylvie Fournel-Gigleux, Fransiska Malfait. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome. Human Molecular Genetics, Volume 27, Issue 20, 15 October 2018, Pages 3475–3487, doi: 10.1093/hmg/ddy234.

Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA, Morava E, Jaeken J, Dos Reis Ferreira V. CDG Therapies: From Bench to Bedside. Int J Mol Sci. 2018 Apr 27;19(5):1304. doi: 10.3390/ijms19051304. PMID: 29702557; PMCID: PMC5983582.

Chang IJ, He M, Lam CT. Congenital Disorders of Glycosylation. Ann Transl Med. 6(24):477, 2018. PMCID none. PMID: 30740408.

Chang IJ, Byers HM, Ng BG, Merritt JL 2nd, Gilmore R, Shrimal S, Wei W, Zhang Y, Blair AB, Freeze HH, Zhang B, Lam C. Factor VIII and vWF deficiency in STT3A-CDG. J Inherit Metab Dis. 2018 Dec 27. Epub ahead of print. PMID: 30701557.

Westenfield K, Sarafoglou K, Speltz LC, Pierpont EI, Steyermark J, Nascene D, Bower M, Pierpont ME. Mosaicism of the UDP-Galactose Transporter SLC35A2 in a Female Causing a Congenital Disorder of Glycosylation. BMC Medical Genetics.  2018 Jun 15;19(1):100.

Lam C, Wolfe L, Need A, Shashi V, Enns G. NGLY1-Related Congenital Disorder of Deglycosylation. GeneReviews. (2018). PMID: 29419975

Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B; Undiagnosed Diseases Network, Craigen WJ, Bearden DR, Graham BH, Freeze HH. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 Dec 6;103(6):1030–1037. doi: 10.1016/j.ajhg.2018.10.021. Epub 2018 Nov 29. PMID: 30503518

Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, Dos Reis Ferreira V, Morava E, Jaeken J. The challenge of CDG diagnosis. Mol Genet Metab. 2019 Jan;126(1):1–5. doi: 10.1016/j.ymgme.2018.11.003. Epub 2018 Nov 9. PMID: 30454869.

Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow. Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches. Human Molecular Genetics. Volume 27. Issue 6. pages 1055–1066. doi: 10.1093/hmg/ddy026 15 March 2018.

Larson, AA, Baker, PR, Milev, MP et al. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. Skeletal Muscle. 8, 17 (2018). doi: 10.1186/s13395-018-0163-0.

Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. Urine Oligosaccharide Screening by MALDI-TOF for the Identification of NGLY1 Deficiency. Mol Genet Metab. 124(1): 82–86, 2018. PMID: 29550355.

Kane MS, Davids M, Bond MR, Adams CJ, Grout ME, Phelps IG, O’Day DR, Dempsey JC, Li X, Golas G, Vezina G, Gunay-Aygun M, Hanover JA, Doherty D, He M, Malicdan MCV, Gahl WA, Boerkoel CF. Abnormal glycosylation in Joubert syndrome type 10. Cilia. 2017 Mar, 6(2). PMCID: PMC5364566.

Congenital Disorders of Glycosylation. Thiel C, Himmelreich N, Hoffmann GF, Körner C. IN: Pediatric Endocrinology and Inborn Errors of Metabolism (2017). 2nd Edition. Editor: Kyriakie Sarafoglou. McGraw Hill Companies, New York: 951–982.

Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, Nelson C, DiMaggio D, Jones N, Rosenzweig SD, Stone KD, Freeman AF, Holland SM, Hanover JA, Milner JD, Lyons JJ. Detection of phosphoglucomutase-3 (PGM3) deficiency by lectin-based flow cytometry. J Allergy Clin Immunol. 2017;140(1): 291–294. PMID: 28063873.

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. Oral D-galactose supplementation in PGM1-CDG. Genet Med. 2017 Nov;19(11):1226–1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. PMID: 28617415; PMCID: PMC5675745.

Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Wadih ZM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Prospective Phenotyping of NGLY1-CDDG, the First Congenital Disorder of Deglycosylation. Genet Med. 2017;19(2):160–168. PMID: 27388694.

Bi Y, Might M, Vankayalapati H, Balagurunathan K. Repurposing of Proton Pump Inhibitors as First Identified Small Molecule Inhibitors of Endo-β-N-acetylglucosaminidase (ENGase) for the Treatment of Rare NGLY1 Genetic Disease. Bioorganic & Medicinal Chemistry Letters. 5 May 2017.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Alina M, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole S, O’Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SJ, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, Matthijs G, Freeze HH. ALG1-CDG: Clinical and molecular characterization of 39 unreported patients. Human Mutation. 2016;37(7): 653–60. PMID: 26931382.

Chan B, Clasquin M, Smolen GA, Histen G, Powe J, Chen Y, Lin Z, Lu C, Liu Y, Cang Y, Yan Z, Xia Y, Thompson R, Singleton C, Dorsch M, Silverman L, Su SM, Freeze HH, Jin S. A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. Hum Mol Genet. 2016 Jun 1;25(11):2182–2193. Epub 2016 Apr 5. PMID: 27053713.

Zhang Wenyue, James Philip M, Ng Bobby G, Li Xueli, Xia Baoyun, Rong Jiang, Asif Ghazia, Raymond Kimiyo, Jones Melanie A, Hegde Madhuri, Ju Tongzhong, Cummings Richard D, Clarkson Katie, Wood Tim, Boerkoel Cornelius F, Freeze Hudson H, He Miao. A novel N-Tetrasaccharide in patients with congenital disorders of glycosylation, including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase deficiencies. Clinical Chemistry. 2016; Jan,62(1): 208–17. PMCID: PMC4819965.

Andersson HC. A severity score for PGM-1 deficiency. J Pediatr. 2016, Aug, 175:1.

Davids Mariska, Kane Megan S, He Miao, Wolfe Lynne A, Li Xueli, Raihan Mohd A, Chao Katherine R, Bone William P, Boerkoel Cornelius F, Gahl William A, Toro Camilo. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Journal of Medical Genetics. 2016 Mar; 53(3): 180–9. PMCID: PMC5535303.

Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decreased glycosylation precursors. Human Molecular Genetics. 2015 Jun; 24(11): 3050–7.

Lam C, Golas AG, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Schaefer GB, Boerkoel CF, Gahl WA, Wolfe LA. Expanding the Clinical and Molecular Characteristics of PIGT-CDG, a Disorder of Glycosylphosphatidylinositol Anchors. Mol Genet Metab. 2015; 115(2–3): 128–40. PMID: 25943031.

Li X, Raihan MA, Reynoso FJ, He M. Current Protocols in Human Genetics. Glycosylation Analysis for Congenital Disorders of Glycosylation. Wiley. 2015 July; 86(17): 1–17.

Shehata1 L*, Simeonov1 DR*, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman G, Tifft CJ, He M, Jaspers MGJ, Gahl WA. ERCC6 dysfunction presenting as progressive neurological decline with brainhypomyelination. Journal of Medical Genetics. 2014 Nov; 8(5): 2892–900.

Sadat MA1, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJ, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, Louie A, Ireland DC, Grunes C, Cimbro R, Patel V, Holzapfel G, Salahuddin D, Bristol T, Adams D, Marciano BE, Hegde M, Li Y, Calvo KR, Stoddard J, Justement JS, Jacques J, Long Priel DA, Murray D, Sun P, Kuhns DB, Boerkoel CF, Chiorini JA, Di Pasquale G, Verthelyi D, Rosenzweig SD. Glycosylation, hypogammaglobulinemia, and resistance to viral infections. New England Journal of Medicine. 2014 Apr 24;370(17):1615-1625. PMCID: 4066413.

Leoyklang P, Malicdan MC, Yardeni T, Celeste F,Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M. Sialylation of Thomsen-Friedenreichantigen is a noninvasive blood-based biomarker for GNE myopathy. Biomarkers in Medicine. 2014;8(5):641-52.

Might M, Wilsey M. The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated. Genetics in Medicine. 2014 March 20.

Jones MA, Rhodenizer D, da Silva C, Huff IJ, Keong L, Bean LJ, Coffee B, Collins C, Tanner AK, He M, Hegde MR. Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing. Molecular Genetics in Metabolism. 2013 Sept-Oct;110(1–2): 78–85.

Xia B, Asif G, Arthur L, Pervaiz MA, Li X, Liu R, Cummings RD, He M. Oligosaccharide analysis in urine by MALDI-TOF mass spectrometry for the diagnosis of lysosomal storage diseases. Clinical Chemistry. 2013 Sept;59(9): 1357–68.

Miller BS, Duffy MM, Addo OY, Sarafoglou K. rhIGF-1 therapy for growth failure and IGF-1 deficiency in Congenital Disorder of Glycosylation Ia (PMM2 deficiency). Journal of Investigative Medicine High Impact Case Reports. 2013;1:1–4. doi: 10.1177/2324709613503316. Accepted 7/19/13. Published online: 9/5/13. PMID: 26425584.

Xia B, Zhang W, Li X, Jiang R, Harper T, Liu R, Cummings RD, He M. Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation. Analytical Biochemistry. 2013 Nov;442(2): 178–85.

Wolfe LA, Morava E, He M, Vockley J, Gibson KM. Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. Am J Med Genet C Semin Med Genet. 160C: 322–8.

Miller BS, Freeze HH, Hoffmann G, Sarafoglou K. Pubertal Development in ALG6 Deficiency (Congenital Disorder of Glycosylation Type Ic). Molecular Genetics and Metabolism. 2011;103(1): 101–103. PMID: 21334936.

Miller BS, Khosravi MJ, Patterson MC, Conover CA. The Insulin-like Growth Factor System in Children with Congenital Disorders of Glycosylation. The Insulin-like Growth Factor System in Children with Congenital Disorders of Glycosylation. Clinical Endocrinology. 2009;70:892–7. PMID: 19207313.

Miller BS, Freeze HH. New Disorders in Carbohydrate Metabolism: Congenital Disorders of Glycosylation and their Impact on the Endocrine System. Rev Endo Metab Dis. 2003;4:1303–13. PMID: 12618564.

Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O’Brien JF, Vockley J, Freeze HH, Mehta DP, Michels VV. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. Journal of Pediatrics. 1999; 135: 775–81.