Prior Research

  • 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, https://doi.org/10.1093/hmg/ddy234
  • Larson, A.A., Baker, P.R., Milev, M.P. et al. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. Skeletal Muscle 8, 17 (2018). https://doi.org/10.1186/s13395-018-0163-0
  • 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. 115(2–3): 128–40, 2015. PMID: 25943031.
  • 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 unremported patients.” Human Mutation. 37(7): 653–60, 2016. PMID: 26931382.
  • 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. 19(2):160–168, 2017. PMID: 27388694.
  • 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. 140(1): 291–294, 2017. PMID: 28063873.
  • 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.
  • 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.
  • Chang IJ, He M, Lam CT. “Congenital Disorders of Glycosylation.” Ann Transl Med. 6(24):477, 2018. PMCID none. PMID: 30740408.
  • 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.
  • Lam C, Wolfe L, Need A, Shashi V, Enns G. “NGLY1-Related Congenital Disorder of Deglycosylation.” GeneReviews. (2018). PMID: 29419975
  • 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.
  • Christian Thiel, PhD, Nastassja Himmelreich, PhD, Georg F. Hoffmann, MD, and Christian Körner, PhD. Congenital Disorders of Glycosylation. IN: Pediatric Endocrinology and Inborn Errors of Metabolism (2017). 2nd Edition. Editor: Kyriakie Sarafoglou. McGraw Hill Companies, New York: 951–982.
  • Andersson HC. A severity score for PGM-1 deficiency. J Pediatr 2016, Aug, 175:1
  • Miller, B.S., Duffy, M.M., Addo, O.Y., and K. Sarafoglou. 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. 1:1–4, 2013. https://doi.org/10.1177/2324709613503316. Accepted 7/19/13. Published online: 9/5/13. PMID: 26425584.
  • Miller, B.S., Freeze, H.H., Hoffmann, G., K. Sarafoglou. Pubertal Development in ALG6 Deficiency (Congenital Disorder of Glycosylation Type Ic). Molecular Genetics and Metabolism 103(1): 101–103, 2011. PMID: 21334936.
  • Miller, B.S., Khosravi, M.J., Patterson, M.C. and C.A. Conover. The Insulin-like Growth Factor System in Children with Congenital Disorders of Glycosylation. Clinical Endocrinology 70:892–7, 2009. PMID: 19207313.
  • Miller, B.S. and H.H. Freeze. New Disorders in Carbohydrate Metabolism: Congenital Disorders of Glycosylation and their Impact on the Endocrine System. Rev Endo Metab Dis 4:1303–13, 2003. PMID: 12618564.
  • 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
  • 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
  • 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
  • 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
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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. https://doi.org/10.1093/hmg/ddy026 15 March 2018.
  • Yiling Bi, Matthew Might, Hariprasad Vankayalapati and Kuberan Balagurunathan. “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.
  • Matthew Might and Matt Wilsey. “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. 20 March 2014.
  • 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 110(1–2): 78–85, Sept-Oct 2013.
  • 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 59(9): 1357–68, Sept 2013.
  • Baoyun Xia, Wenyue Zhang, Xueli Li, Rong Jiang, Tisa Harper, Renpeng Liu, Richard D. Cummings, Miao He: Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation Analytical Biochemistry 442(2): 178–85, Nov 2013.
  • 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 370(17): 1615–25, April 2014. 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 8(5): 641–652, Jun 2014.
  • Laila Shehata1*, Dimitre R. Simeonov1*, Anja Raams, Lynne Wolfe, Adeline Vanderver,Xueli Li, Yan Huang, Shannon Garner, Cornelius F. Boerkoel, Audrey Thurm, Gail E.Herman, Cynthia J. Tifft, Miao He, Nicolaas G.J. Jaspers, William A. Gahl: ERCC6 dysfunction presenting as progressive neurological decline with brainhypomyelination. Journal of Medical Genetics 8(5): 2892–900, Nov 2014.
  • 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 24(11): 3050–7, June 2015.
  • Xueli Li, Mohd A Raihan, Francis Jeshira Reynoso, Miao He: Glycosylation Analysis for Congenital Disorders of Glycosylation. Current Protocols in Human Genetics. Wiley, 86(17): 1–17, Jul 2015.
  • 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 62(1): 208–17, Jan 2016. PMCID: PMC4819965
  • 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 53(3): 180–9, Mar 2016. PMCID: PMC5535303
  • Megan S Kane, Ph.D.; Mariska Davids; Michelle R Bond; Christopher J Adams; Megan E Grout; Ian G Phelps; Diana R O’Day; Jennifer C Dempsey; Xeuli Li; Gretchen Golas; Gilbert Vezina; Meral Gunay-Aygun; John A Hanover; Dan Doherty; Miao He; May Christine V Malicdan; William A Gahl; Cornelius F Boerkoel: Abnormal glycosylation in Joubert syndrome type 10. Cilia 6(2), Mar 2017. PMCID: PMC5364566
  • Witters P, Tahata S, Barone R, Õunap K, Salvarinova R, Grønborg S, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genet Med. 2020 Feb 27. doi: 10.1038/s41436-020-0767-8. [Epub ahead of print] PMID: 32103184
  • Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O’Brien JF, Vockley J, Freeze HH, Mehta DP, Michels VV. (1999). Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. Journal of Pediatrics. 135: 775–81.
  • Wolfe LA, Morava E, He M, Vockley J, Gibson KM. (2012). 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.