List of works - Marjan Huizing

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

scientific article

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

scientific article

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)

scientific article (publication date: June 2003)

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics

scientific article

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A

scientific article

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

scientific article

Hereditary inclusion body myopathy: a decade of progress

scientific article

Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3

scientific article

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

scientific article

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

scientific article

Natural history of alkaptonuria

scientific article (publication date: 26 December 2002)

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

scientific article (publication date: February 2002)

Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts

scientific article

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex

scientific journal article

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

scientific article (publication date: July 2003)

The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles

scientific journal article

List of works by Marjan Huizing

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Hereditary inclusion body myopathy: a decade of progress

Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Natural history of alkaptonuria

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles