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Article

Griscelli syndrome: a model system to study vesicular trafficking.

Pigment cell & melanoma research - 1 Jun 2009

Van Gele Mireille, Dynoodt Peter, Lambert Jo

Abstract excerpt

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes. The three GS subtypes are commonly characterized by pigment dilution of the skin and hair, due to defects involving melanosome transport in melanocytes. Here, we review how detailed studies concerning GS have contributed to a better understanding of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19243575
DOI: 10.1111/j.1755-148X.2009.00558.x

Genes

MLPH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Griscelli syndrome: a model system to study vesicular trafficking.PMID 19243575Read ↗

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)Semantic proximity Read ↗

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).Semantic proximity Read ↗

Rab27aSemantic proximity Read ↗

Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.Semantic proximity Read ↗

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.Semantic proximity Read ↗

Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector EngagementSemantic proximity Read ↗

Rab27b is Up‐Regulated in Human Griscelli Syndrome Type II Melanocytes and Linked to the Actin Cytoskeleton via Exon F‐Myosin Va TranscriptsSemantic proximity Read ↗

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.Semantic proximity Read ↗

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.Semantic proximity Read ↗

Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport.Semantic proximity Read ↗

Rab27a regulates the peripheral distribution of melanosomes in melanocytes.Semantic proximity Read ↗

The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes.Semantic proximity Read ↗

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