日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

STXBP3 的变异与极早期发病的炎症性肠病、双侧感觉神经性听力损失和免疫失调有关

Ouahed Jodie, Kelsen Judith R, Spessott Waldo A, Kooshesh Kameron, Sanmillan Maria L, Dawany Noor, Sullivan Kathleen E, Hamilton Kathryn E, Slowik Voytek, Nejentsev Sergey, Neves João Farela, Flores Helena, Chung Wendy K, Wilson Ashley, Anyane-Yeboa Kwame, Wou Karen, Jain Preti, Field Michael, Tollefson Sophia, Dent Maiah H, Li Dalin, Naito Takeo, McGovern Dermot P B, Kwong Andrew C, Taliaferro Faith, Ordovas-Montanes Jose, Horwitz Bruce H, Kotlarz Daniel, Klein Christoph, Evans Jonathan, Dorsey Jill, Warner Neil, Elkadri Abdul, Muise Aleixo M, Goldsmith Jeffrey, Thompson Benjamin, Engelhardt Karin R, Cant Andrew J, Hambleton Sophie, Barclay Andrew, Toth-Petroczy Agnes, Vuzman Dana, Carmichael Nikkola, Bodea Corneliu, Cassa Christopher A, Devoto Marcella, Maas Richard L, Behrens Edward M, Giraudo Claudio G, Snapper Scott B

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

新生儿噬血细胞性淋巴组织细胞增生症 (HLH) 和 G6PD 缺乏症患者的 STXBP2-R190C 变异揭示了 STXBP2 结构域 2 对颗粒胞吐的关键作用

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

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

突触融合蛋白 4 介导细胞毒性 T 淋巴细胞中溶解颗粒胞吐的内体循环

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

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

SM 蛋白 Munc18-2 促进突触融合蛋白 11 介导的脂质混合转变为完全融合,从而产生 T 淋巴细胞细胞毒性

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

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion

STXBP2 显性负突变抑制 SNARE 介导的膜融合,导致噬血细胞性淋巴组织细胞增生症

Waldo A Spessott, Maria L Sanmillan, Margaret E McCormick, Nishant Patel, Joyce Villanueva, Kejian Zhang, Kim E Nichols, Claudio G Giraudo

Endogenous species of mammalian nonmuscle myosin IIA and IIB include activated monomers and heteropolymers.

哺乳动物非肌肉肌球蛋白 IIA 和 IIB 的内源性种类包括活化的单体和异聚物

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

Cog2 null mutant CHO cells show defective sphingomyelin synthesis

Cog2 缺失突变体 CHO 细胞表现出鞘磷脂合成缺陷

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