| The Neurobeachin-like 2 protein (NBEAL2) controls the homeostatic level of the ribosomal protein RPS6 in mast cells. | The Neurobeachin-like 2 protein (NBEAL2) controls the homeostatic level of the ribosomal protein RPS6 in mast cells.
Wegner P, Drube J, Ziegler L, Strotmann B, Marquardt R, Küchler C, Groth M, Nieswandt B, Andreas N, Drube S. | 04/8/2024 |
| NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells. | NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage L, Carbone F, Riller Q, Zachayus JL, Kerbellec E, Buzy A, Stolzenberg MC, Luka M, de Cevins C, Kalouche G, Favier R, Michel A, Meynier S, Corneau A, Evrard C, Neveux N, Roudières S, Pérot BP, Fusaro M, Lenoir C, Pellé O, Parisot M, Bras M, Héritier S, Leverger G, Korganow AS, Picard C, Latour S, Collet B, Fischer A, Neven B, Magérus A, Ménager M, Pasquier B, Rieux-Laucat F., Free PMC Article | 06/28/2023 |
| Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects. | Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects.
Pluthero FG, Kahr WHA. | 06/26/2021 |
| The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte alpha-granule biogenesis. | The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis.
Lo RW, Li L, Pluthero FG, Leung R, Eto K, Kahr WHA. | 03/13/2021 |
| Defective Zn(2+) homeostasis in mouse and human platelets with alpha- and delta-storage pool diseases. | Defective Zn(2+) homeostasis in mouse and human platelets with α- and δ-storage pool diseases.
Kiran Gotru S, van Geffen JP, Nagy M, Mammadova-Bach E, Eilenberger J, Volz J, Manukjan G, Schulze H, Wagner L, Eber S, Schambeck C, Deppermann C, Brouns S, Nurden P, Greinacher A, Sachs U, Nieswandt B, Hermanns HM, Heemskerk JWM, Braun A., Free PMC Article | 10/31/2020 |
| NBEAL2 is required for the retention of both endocytosed and megakaryocyte-synthesized proteins by maturing alpha-granules, and possibly by platelet-borne granules. This function may involve interaction of NBEAL2 with P-selectin. | NBEAL2 (Neurobeachin-Like 2) Is Required for Retention of Cargo Proteins by α-Granules During Their Production by Megakaryocytes.
Lo RW, Li L, Leung R, Pluthero FG, Kahr WHA. | 08/10/2019 |
| Nbeal2 interacts with Dock7, Sec16a, and Vac14. | Nbeal2 interacts with Dock7, Sec16a, and Vac14.
Mayer L, Jasztal M, Pardo M, Aguera de Haro S, Collins J, Bariana TK, Smethurst PA, Grassi L, Petersen R, Nurden P, Favier R, Yu L, Meacham S, Astle WJ, Choudhary J, Yue WW, Ouwehand WH, Guerrero JA., Free PMC Article | 03/23/2019 |
| Author observed absence of NBEAL2 in platelets from GPS patients with 3 different genotypes, and reduced/truncated platelet NBEAL2 has been reported for others. | NBEAL2 mutations and bleeding in patients with gray platelet syndrome.
Pluthero FG, Di Paola J, Carcao MD, Kahr WHA. | 11/10/2018 |
| NBEAL2 has an essential role in neutrophil and NK cell function and pathogen defense | NBEAL2 is required for neutrophil and NK cell function and pathogen defense.
Sowerby JM, Thomas DC, Clare S, Espéli M, Guerrero JA, Hoenderdos K, Harcourt K, Marsden M, Abdul-Karim J, Clement M, Antrobus R, Umrania Y, Barton PR, Flint SM, Juss JK, Condliffe AM, Lyons PA, Humphreys IR, Chilvers ER, Ouwehand WH, Dougan G, Smith KG., Free PMC Article | 10/28/2017 |
| we herein show a long-distance regulatory region with GATA1 binding sites as being a strong enhancer for NBEAL2 expression. | The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.
Wijgaerts A, Wittevrongel C, Thys C, Devos T, Peerlinck K, Tijssen MR, Van Geet C, Freson K., Free PMC Article | 07/8/2017 |
| Mutations in NBEAL2, encoding a BEACH protein is associated with gray platelet syndrome. | Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.
Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J., Free PMC Article | 10/8/2011 |
| NBEAL2 mutation is associated with gray platelet syndrome. | NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA., Free PMC Article | 10/8/2011 |
| NBEAL2 mutation is associated with gray platelet syndrome. | Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH., Free PMC Article | 10/8/2011 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
So HC, Fong PY, Chen RY, Hui TC, Ng MY, Cherny SS, Mak WW, Cheung EF, Chan RC, Chen EY, Li T, Sham PC. | 12/2/2009 |