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1

25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS

Kelsen, Judith R, Ouahed, Jodie, Spessott, Waldo A, Kooshesh, Kameron, Sanmillan, Maria L, Dawany, Noor, Sullivan, Kathleen E, Hamilton, Kathryn, Slowik, Voytek, Nejentsev, Sergey, Neves, João Farela,

Journal:

Inflammatory Bowel Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2018

2

Defective GM3 Synthesis in Cog2 Null Mutant CHO Cells Associates to Mislocalization of Lactosylceramide Sialyltransferase in the Golgi Complex

Waldo Spessott, Andrea Uliana, Hugo J. F. Maccioni

Journal:

Neurochemical Research

Année:

2010

Langue:

english

Fichier:

PDF, 295 KB

english, 2010

3

Cog2 null mutant CHO cells show defective sphingomyelin synthesis

Waldo Spessott, Andrea Uliana, Hugo J.F. Maccioni

Journal:

Chemistry and Physics of Lipids

Année:

2010

Langue:

english

Fichier:

PDF, 50 KB

english, 2010

4

Organization of the synthesis of glycolipid oligosaccharides in the Golgi complex

Hugo J.F. Maccioni, Rodrigo Quiroga, Waldo Spessott

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 744 KB

english, 2011

5

Glycosyltransferase complexes improve glycolipid synthesis

Waldo Spessott, Pilar M. Crespo, José Luis Daniotti, Hugo J.F. Maccioni

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 384 KB

english, 2012

6

Endogenous Species of Mammalian Nonmuscle Myosin IIA and IIB Include Activated Monomers and Heteropolymers

Shutova, Maria S., Spessott, Waldo A., Giraudo, Claudio G., Svitkina, Tatyana

Journal:

Current Biology

Année:

2014

Langue:

english

Fichier:

PDF, 5.85 MB

english, 2014

7

SM protein Munc18-2 facilitates transition of Syntaxin 11-mediated lipid mixing to complete fusion for T-lymphocyte cytotoxicity

Spessott, Waldo A., Sanmillan, Maria L., McCormick, Margaret E., Kulkarni, Vineet V., Giraudo, Claudio G.

Journal:

Proceedings of the National Academy of Sciences

Année:

2017

Langue:

english

Fichier:

PDF, 2.04 MB

english, 2017

8

Syntaxin 4 mediates endosome recycling for lytic granule exocytosis in cytotoxic T-lymphocytes

Spessott, Waldo A., Sanmillan, Maria L., Kulkarni, Vineet V., McCormick, Margaret E., Giraudo, Claudio G.

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 2.60 MB

english, 2017

9

25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS

Kelsen, Judith R., Ouahed, Jodie, Spessott, Waldo A., Kooshesh, Kameron, Sanmillan, Maria L., Dawany, Noor, Sullivan, Kathleen E., Hamilton, Kathryn, Slowik, Voytek, Nejentsev, Sergey, Farela Neves, J

Journal:

Gastroenterology

Année:

2018

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2018

10

Sa2008 - Mutations in Stxbp3 Contribute to Very Early Onset of IBD Immunodeficieny and Hearing Loss

Kelsen, Judith R., Ouahed, Jodie, Spessott, Waldo, Kooshesh, Kameron, Sanmillan, Maria, Dawany, Noor, Sullivan, Kathleen E., Hamilton, Kathryn E., Slowik, Voyteck, Nejentsev, Sergey, Neves, João Farel

Journal:

Gastroenterology

Année:

2018

Langue:

english

Fichier:

PDF, 561 KB

english, 2018

11

STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis

Benavides, Nathalia, Spessott, Waldo A., Sanmillan, Maria L., Vargas, Marcelo, Livingston, Mylynda S., Erickson, Nissa, Pozos, Tamara C., McCormick, Margaret E., Scharrig, Emilia, Messinger, Yoav H.,

Journal:

Frontiers in Immunology

Année:

2020

Fichier:

PDF, 3.54 MB

2020