List of works - Gael Ménasche

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

scientific article published on 6 June 2017

A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion

scientific article

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice.

scientific article published on 18 December 2014

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

scientific article published on 16 November 2012

EBAG9 tempers lymphocyte killing activity

scientific article

Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity

scientific article published in July 2002

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

scientific article

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

scientific article

Griscelli syndrome types 1 and 2.

scientific article published on November 2002

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene

scientific article published in July 2004

HDAC6 regulates the dynamics of lytic granules in cytotoxic T lymphocytes

scientific article

Inherited defects causing hemophagocytic lymphohistiocytic syndrome

scientific article published on 01 December 2011

Inherited defects in lymphocyte cytotoxic activity

scientific article published on May 2010

Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability.

scientific article published on 8 March 2018

Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex

scientific article published on October 2016

Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells

scientific article published on 14 April 2020

LYST Controls the Biogenesis of the Endosomal Compartment Required for Secretory Lysosome Function

scientific article published on 06 January 2015

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

scientific article

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

scientific article (publication date: June 2000)

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice

scientific article

Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome

scientific article published on 01 August 2010

Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis

scientific article

RIAM links the ADAP/SKAP-55 signaling module to Rap1, facilitating T-cell-receptor-mediated integrin activation

scientific journal article

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

scientific article

Regulation of T-cell antigen receptor-mediated inside-out signaling by cytosolic adapter proteins and Rap1 effector molecules

scientific article published on August 2007

Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4

scientific article

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity

scientific article published on 14 December 2004

Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex

scientific article published on 3 February 2012

Tomosyn functions as a PKCδ-regulated fusion clamp in mast cell degranulation

scientific article published on 03 July 2018

[Defect in lytic granule exocytosis: several causes, a same effect]

scientific article published on 01 August 2006

List of works by Gael Ménasche

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice.

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

EBAG9 tempers lymphocyte killing activity

Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity

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

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

Griscelli syndrome types 1 and 2.

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene

HDAC6 regulates the dynamics of lytic granules in cytotoxic T lymphocytes

Inherited defects causing hemophagocytic lymphohistiocytic syndrome

Inherited defects in lymphocyte cytotoxic activity

Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability.

Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex

Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells

LYST Controls the Biogenesis of the Endosomal Compartment Required for Secretory Lysosome Function

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice

Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome

Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis

RIAM links the ADAP/SKAP-55 signaling module to Rap1, facilitating T-cell-receptor-mediated integrin activation

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

Regulation of T-cell antigen receptor-mediated inside-out signaling by cytosolic adapter proteins and Rap1 effector molecules

Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity

Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex

Tomosyn functions as a PKCδ-regulated fusion clamp in mast cell degranulation

[Defect in lytic granule exocytosis: several causes, a same effect]