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Marjan Huizing, Ph.D.

Associate Investigator, Medical Genetics Branch
Section on Human Biochemical Genetics

Selected Publications

Huizing M., Anikster Y., Fitzpatrick D.L., Jeong A.B., D'Souza M., Rausche M., Toro J.R., Kaiser-Kupfer M.I., White J.G., Gahl W.A. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet, 69:1022-1032. 2001. [PubMed]

Huizing M., Gahl W.A. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr Mol Med, 2:451-467. 2002. [PubMed]

Huizing M., Scher C.D., Strovel E., Fitzpatrick D.L., Hartnell L.M., Anikster Y., Gahl W.A. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res, 51:150-158. 2002. [PubMed]

Huizing M., Hess R., Dorward H., Claassen D.A., Helip-Wooley A., Kleta R., Kaiser-Kupfer M.I., White J.G., Gahl W.A. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic, 5:711-22. 2004. [PubMed]

Huizing M., Rakocevic G., Sparks S.E., Mamali I., Shatunov A., Goldfarb L., Krasnewich D., Gahl W.A., Dalakas M.C. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab, 81:196-202. 2004. [PubMed]

Helip-Wooley A, Westbroek W, Dorward H, Mommaas M, Boissy RE, Gahl WA, Huizing M. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. BMC Cell Biol, 6:33. 2005. [PubMed]

Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human Hereditary Inclusion Body Myopathy. Glycobiology, 15:1102-1110. 2005. [PubMed]

Galeano B, Klootwijk R, Manoli I, Sun MS, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. Journal of Clinical Investigation, 17:1585-1594. 2007. [PubMed]

Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of Lysosome-related Organelle Biogenesis: Clinical and Molecular Genetics. Annual Reviews of Genomics and Human Genetics, 9:359-86. 2008. [PubMed]

Klootwijk R.D., Savelkoul P.J.M., Ciccone C., Manoli I., Caplen N.J., Krasnewich D.M., Gahl W.A., Huizing M. Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.  FASEB J, 22:3846-3852. 2008. [PubMed]

Huizing M., Krasnewich D.M. Hereditary Inclusion Body myopathy: A decade of progress. Biochim Biophys Acta, 1792: 881-887. 2009. [PubMed]

Huizing M., Dorward H., Ly L., Klootwijk R., Kleta R., Skovby F., Pei W., Feldman B., Gahl W.A., Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Molecular Genetics and Metabolism, 100: 149-154. 2010. [PubMed]

Kurochkina N, Yardeni T, Huizing M. Molecular modeling of the bifunctional enzyme uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase and predictions of structural effects of mutations associated with HIBM and sialuria. Gycobiology, 20:322-337. 2010. [PubMed]

Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA. A BLOC-1 Mutation Screen Reveals that PLDN is Mutated in Hermanksy-Pudlak Syndrome Type 9. Am J Hum Genet, 88:778-787. 2011. [PubMed]

Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith ACM, Huizing M. Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion. PLoS ONE, 6:e22861. 2011. [PubMed Central]

Yardeni T, Choekyi T, Jacobs K, Ciccone C, Patzel K, Anikster Y, Gahl WA, Kurochkina N, Huizing M. Identification, Tissue Distribution and Molecular Modeling of Novel Human Isoforms of the Key Enzyme in Sialic Acid Synthesis, UDP-GlcNAc 2-epimerase/ManNAc Kinase. Biochemistry, 50:8914-8925. 2011. [PubMed]

Kakani S, Yardeni T, Poling J, Ciccone C, Niethamer T, Klootwijk RD, Manoli I, Darvish D, Hoogstraten-Miller S, Zerfas P, Tian E, Ten Hagen KG, Kopp JB, Gahl WA, Huizing M. The Gne M712T mouse as a model for human glomerulopathy. Am J Pathol, 2012. [In Press]

Book Chapters:

Boissy RE, Huizing M, Gahl WA. Biogenesis of Melanosomes, Section 2 (7). In: The Pigmentary System: Physiology and Pathophysiology (JJ. Nordlund, RE Boissy, VJ Hearing, RA King, WS Oetting, J-P Ortonne, eds) Oxford: Blackwell Publishing, May 2006. ISBN: 1405120347. pp. 155-170.

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Last Updated: March 11, 2014