2011
DOI: 10.1111/j.1755-148x.2011.00901.x
|View full text |Cite
|
Sign up to set email alerts
|

Cellular and clinical report of new Griscelli syndrome type III cases

Abstract: Summary The RAB27A/Melanophilin/Myosin-5a tripartite protein complex is required for capturing mature melanosomes in the peripheral actin network of melanocytes for subsequent transfer to keratinocytes. Mutations in any one member of this tripartite complex cause three forms of Griscelli syndrome (GS), each with distinct clinical features but with a similar cellular phenotype. To date, only one case of GS type III (GSIII), caused by mutations in the Melanophilin (MLPH) gene, has been reported. Here we report s… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1
1

Citation Types

1
23
0

Year Published

2013
2013
2023
2023

Publication Types

Select...
6
2
1

Relationship

0
9

Authors

Journals

citations
Cited by 25 publications
(24 citation statements)
references
References 33 publications
1
23
0
Order By: Relevance
“…Dysfunctions of downstream targets of Rab27 or its regulators are also expected to be found to cause diseases that are characterized by secretory defects (156) (see Table 1). Actually, dysfunctions of Slac2-a and Munc13-4 have already been shown to cause type 3 Griscelli syndrome (mouse model: leaden), whose patients show silvery hair (73,74), and type 3 familial hemophagocytic lymphohistiocytosis (FHL3) (mouse model: jinx) (103)(104)(105), respectively. Secretion defects have been identified in several Slp KO mice (22,25,26,29,42) and Noc2 KO mice (98), e.g.…”
Section: Relationship Between Rab27 Effectors and Human Diseasesmentioning
confidence: 99%
“…Dysfunctions of downstream targets of Rab27 or its regulators are also expected to be found to cause diseases that are characterized by secretory defects (156) (see Table 1). Actually, dysfunctions of Slac2-a and Munc13-4 have already been shown to cause type 3 Griscelli syndrome (mouse model: leaden), whose patients show silvery hair (73,74), and type 3 familial hemophagocytic lymphohistiocytosis (FHL3) (mouse model: jinx) (103)(104)(105), respectively. Secretion defects have been identified in several Slp KO mice (22,25,26,29,42) and Noc2 KO mice (98), e.g.…”
Section: Relationship Between Rab27 Effectors and Human Diseasesmentioning
confidence: 99%
“…MLPH encodes a member of the exophilin subfamily of Rab effector proteins known as melanophilin, which acts as a link between the small GTPase melanosome‐bound RAB27A and the actin‐associated motor protein MYO5A . This protein complex plays a crucial role in the melanosome motility in melanocytes, and aberrations in any of the complex components have been shown to result in perinuclear localisation of melanosomes and therefore failure to transfer mature melanosomes to adjacent keratinocytes, eventually causing hypopigmentation . Human individuals homozygous for a pathogenic MLPH mutation (c.102C>T; p.R35W) display Griscelli syndrome type 3, a pigmentary disorder characterized by a hypopigmented phenotype .…”
Section: Discussionmentioning
confidence: 88%
“…This protein complex plays a crucial role in the melanosome motility in melanocytes, and aberrations in any of the complex components have been shown to result in perinuclear localisation of melanosomes and therefore failure to transfer mature melanosomes to adjacent keratinocytes, eventually causing hypopigmentation . Human individuals homozygous for a pathogenic MLPH mutation (c.102C>T; p.R35W) display Griscelli syndrome type 3, a pigmentary disorder characterized by a hypopigmented phenotype . The naevus‐associated SNP in this work, rs2325813, is predicted to disrupt a binding site of two miRNAs (hsa‐miR‐185‐3p and hsa‐miR‐762).…”
Section: Discussionmentioning
confidence: 88%
“…GS3 manifestations are restricted to hypopigmentation of the skin and silvery-gray hair. There is no neurological symptom and immune defect in this type of GS (5,7,10). These patients may remain undiagnosed because the only symptom is the pigmentary dilution.…”
Section: Discussionmentioning
confidence: 92%