HomeResearchIntramural ResearchResearch Branches at NHGRIMedical Genetics BranchHuizing Lab Huizing Publications

Print Version

Marjan Huizing, Ph.D.

Associate Investigator, Medical Genetics Branch
Section on Human Biochemical Genetics

Selected Publications

Huizing M., Didier A., Walenta J., Anikster Y., Gahl W.A., Kramer H. Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33. Gene, 264:241-247. 2001. [PubMed]

Huizing M., Sarangarajan R., Strovel E., Zhao Y., Gahl W.A., Boissy R.E. AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes. Mol Biol Cell, 12:2075-2085. 2001. [PubMed]

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]

Anikster Y., Huizing M., White J., Bale S., Gahl W.A., Toro J. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genet, 28:376-380. 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., Boissy R.E., Gahl W.A. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res, 15:405-419. 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]

Huizing M, Brooks BP, Anikster Y. Optic atrophies in metabolic disorders. Molecular Genetics and Metabolism, 86:51-60. 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]

Savelkoul PJM, Manoli I, Sparks S, Ciccone C, Gahl WA, Krasnewich DM, Huizing M. Normal sialylation status of N-linked and O-GalNAc linked glycans in Hereditary Inclusion Body Myopathy. Molecular Genetics and Metabolism, 88:389-390. 2006. [PubMed]

Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas M, Gahl W. Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurology, 7:3. 2007. [PubMed]

Huizing M, Parkes JM, Helip-Wooley A, White JGM, Gahl WA. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets, 18:150-157. 2007. [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]

Bookchapter:

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.

Top of page

Last Reviewed: December 23, 2008