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Literature citations Results

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

Madera-Salcedo I.K., Danelli L., Tiwari N., Dema B., Pacreau E., Vibhushan S., Birnbaum J., Agabriel C., Liabeuf V., Klingebiel C. et al.

Sci Signal 11:0-0(2018) · Mapped (5)

The ADAP/SKAP55 signaling module regulates T-cell receptor-mediated integrin activation through plasma membrane targeting of Rap1.

Kliche S., Breitling D., Togni M., Pusch R., Heuer K., Wang X., Freund C., Kasirer-Friede A., Menasche G., Koretzky G.A. et al.

Mol. Cell. Biol. 26:7130-7144(2006) · UniProtKB (2) · Mapped (10)

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

Menager M.M., Menasche G., Romao M., Knapnougel P., Ho C.-H., Garfa M., Raposo G., Feldmann J., Fischer A., de Saint Basile G.

Nat. Immunol. 8:257-267(2007) · UniProtKB (2)

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

Menasche G., Kliche S., Chen E.J., Stradal T.E., Schraven B., Koretzky G.

Mol. Cell. Biol. 27:4070-4081(2007) · Mapped (33)

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

Sepulveda F.E., Garrigue A., Maschalidi S., Garfa-Traore M., Menasche G., Fischer A., de Saint Basile G.

Blood 127:2113-2121(2016) · Mapped (9)

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Menasche G., Pastural E., Feldmann J., Certain S., Ersoy F., Dupuis S., Wulffraat N., Bianchi D., Fischer A., Le Deist F. et al.

Nat. Genet. 25:173-176(2000) · UniProtKB (1)

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

Cote M., Menager M.M., Burgess A., Mahlaoui N., Picard C., Schaffner C., Al-Manjomi F., Al-Harbi M., Alangari A., Le Deist F. et al.

J. Clin. Invest. 119:3765-3773(2009) · UniProtKB (1) · Mapped (4)

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

Adam F., Kauskot A., Kurowska M., Goudin N., Munoz I., Bordet J.C., Huang J.D., Bryckaert M., Fischer A., Borgel D. et al.

Arterioscler. Thromb. Vasc. Biol. 38:1037-1051(2018) · Mapped (6)

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

Munoz I., Danelli L., Claver J., Goudin N., Kurowska M., Madera-Salcedo I.K., Huang J.D., Fischer A., Gonzalez-Espinosa C., de Saint Basile G. et al.

J. Cell Biol. 215:203-216(2016) · Mapped (12)

HDAC6 regulates the dynamics of lytic granules in cytotoxic T lymphocytes.

Nunez-Andrade N., Iborra S., Trullo A., Moreno-Gonzalo O., Calvo E., Catalan E., Menasche G., Sancho D., Vazquez J., Yao T.P. et al.

J. Cell. Sci. 129:1305-1311(2016) · Mapped (7)

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

Menasche G., Ho C.H., Sanal O., Feldmann J., Tezcan I., Ersoy F., Houdusse A., Fischer A., de Saint Basile G.

J. Clin. Invest. 112:450-456(2003) · UniProtKB (2) · Mapped (15)

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

Sanal O., Ersoy F., Tezcan I., Metin A., Yel L., Menasche G., Gurgey A., Berkel I., de Saint Basile G.

J. Clin. Immunol. 22:237-243(2002) · Mapped (14)

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

Sepulveda F.E., Debeurme F., Menasche G., Kurowska M., Cote M., Pachlopnik Schmid J., Fischer A., de Saint Basile G.

Blood 121:595-603(2013) · Mapped (20)

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

Menasche G., Feldmann J., Houdusse A., Desaymard C., Fischer A., Goud B., de Saint Basile G.

Blood 101:2736-2742(2003) · UniProtKB (1) · Mapped (3)

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

Grandin V., Sepulveda F.E., Lambert N., Al Zahrani M., Al Idrissi E., Al-Mousa H., Almanjomi F., Al-Ghonaium A., K Habazi M., A Alghamdi H. et al.

Hum. Mutat. 38:1355-1359(2017) · Mapped (4)

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

Sepulveda F.E., Maschalidi S., Vosshenrich C.A., Garrigue A., Kurowska M., Menasche G., Fischer A., Di Santo J.P., de Saint Basile G.

Blood 125:1427-1434(2015) · Mapped (7)

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

Menasche G., Menager M.M., Lefebvre J.M., Deutsch E., Athman R., Lambert N., Mahlaoui N., Court M., Garin J., Fischer A. et al.

Blood 112:5052-5062(2008) · UniProtKB (2) · Mapped (3)

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