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Items: 1 to 50 of 212

1.

Ttc7a regulates haematopoietic stem cell functions while controlling the stress-induced response.

Leveau C, Gajardo T, El-Daher MT, Cagnard N, Fischer A, de Saint Basile G, Sepulveda FE.

Haematologica. 2019 Apr 19. pii: haematol.2018.207100. doi: 10.3324/haematol.2018.207100. [Epub ahead of print]

2.

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D.

Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):970-975. doi: 10.1073/pnas.1813582116. Epub 2018 Dec 27.

3.

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.

El-Daher MT, Cagnard N, Gil M, Da Cruz MC, Leveau C, Sepulveda F, Zarhrate M, Tores F, Legoix P, Baulande S, de Villartay JP, Almouzni G, Quivy JP, Fischer A, de Saint Basile G.

Cell Discov. 2018 Nov 13;4:61. doi: 10.1038/s41421-018-0061-y. eCollection 2018.

4.

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N.

Nat Genet. 2019 Jan;51(1):196. doi: 10.1038/s41588-018-0304-8.

PMID:
30429576
5.

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N.

Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29. Erratum in: Nat Genet. 2018 Nov 14;:.

PMID:
30374066
6.

Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2-Deficient Intestinal Organoids.

Mosa MH, Nicolle O, Maschalidi S, Sepulveda FE, Bidaud-Meynard A, Menche C, Michels BE, Michaux G, de Saint Basile G, Farin HF.

Cell Mol Gastroenterol Hepatol. 2018 Aug 14;6(4):477-493.e1. doi: 10.1016/j.jcmgh.2018.08.001. eCollection 2018.

7.

Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency.

Sokol H, Mahlaoui N, Aguilar C, Bach P, Join-Lambert O, Garraffo A, Seksik P, Danion F, Jegou S, Straube M, Lenoir C, Neven B, Moshous D, Blanche S, Pigneur B, Goulet O, Ruemmele F, Suarez F, Beaugerie L, Pannier S, Mazingue F, Lortholary O, Galicier L, Picard C, de Saint Basile G, Latour S, Fischer A.

J Allergy Clin Immunol. 2019 Feb;143(2):775-778.e6. doi: 10.1016/j.jaci.2018.09.021. Epub 2018 Oct 10. No abstract available.

PMID:
30312711
8.

TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review.

Fayard J, Collardeau S, Bertrand Y, Cordier MP, Malcus C, Dubois R, Mure PY, de Saint Basile G, Louazon T, Rohmer B, Lachaux A, Duclaux R, Peretti N.

Arch Pediatr. 2018 Jun 16. pii: S0929-693X(18)30112-X. doi: 10.1016/j.arcped.2018.05.006. [Epub ahead of print]

PMID:
29921470
9.

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

Adam F, Kauskot A, Kurowska M, Goudin N, Munoz I, Bordet JC, Huang JD, Bryckaert M, Fischer A, Borgel D, de Saint Basile G, Christophe OD, Ménasché G.

Arterioscler Thromb Vasc Biol. 2018 May;38(5):1037-1051. doi: 10.1161/ATVBAHA.117.310373. Epub 2018 Mar 8.

PMID:
29519941
10.

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Besnard C, Levy E, Aladjidi N, Stolzenberg MC, Magerus-Chatinet A, Alibeu O, Nitschke P, Blanche S, Hermine O, Jeziorski E, Landman-Parker J, Leverger G, Mahlaoui N, Michel G, Pellier I, Suarez F, Thuret I, de Saint-Basile G, Picard C, Fischer A, Neven B, Rieux-Laucat F, Quartier P; Members of the French reference center for pediatric autoimmune cytopenias (CEREVANCE).

Clin Immunol. 2018 Mar;188:52-57. doi: 10.1016/j.clim.2017.12.009. Epub 2018 Jan 10.

PMID:
29330115
11.

Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.

Soheili T, Durand A, Sepulveda FE, Rivière J, Lagresle-Peyrou C, Sadek H, de Saint Basile G, Martin S, Mavilio F, Cavazzana M, André-Schmutz I.

Blood Adv. 2017 Dec 21;1(27):2781-2789. doi: 10.1182/bloodadvances.2017012088. eCollection 2017 Dec 26.

12.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschké P, Garrigue A, de Saint Basile G, Kivuva E; DDD Study, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J.

Am J Hum Genet. 2017 Dec 7;101(6):995-1005. doi: 10.1016/j.ajhg.2017.10.009. Epub 2017 Nov 30.

13.

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

Benezech S, Walzer T, Charrier E, Heidelberg D, De Saint-Basile G, Bertrand Y, Belot A.

Clin Case Rep. 2017 Sep 12;5(11):1743-1749. doi: 10.1002/ccr3.1135. eCollection 2017 Nov.

14.

Hemophagocytic syndrome: primary forms and predisposing conditions.

Sepulveda FE, de Saint Basile G.

Curr Opin Immunol. 2017 Dec;49:20-26. doi: 10.1016/j.coi.2017.08.004. Epub 2017 Sep 1. Review.

PMID:
28866302
15.

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

Grandin V, Sepulveda FE, Lambert N, Al Zahrani M, Al Idrissi E, Al-Mousa H, Almanjomi F, Al-Ghonaium A, K Habazi M, A Alghamdi H, Picard C, Bole-Feysot C, Nitschke P, Ménasché G, de Saint Basile G.

Hum Mutat. 2017 Oct;38(10):1355-1359. doi: 10.1002/humu.23274. Epub 2017 Jun 19.

PMID:
28585352
16.

Familial haemophagocytosis lymphohisticytosis type 3: A case report.

Kamoun F, Hsairi M, Grandin V, Ben Ameur S, De Saint Basile G, Hachicha M.

Arch Pediatr. 2017 Jan;24(1):33-35. doi: 10.1016/j.arcped.2016.10.021. Epub 2016 Nov 30.

PMID:
27914778
17.

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 IK, Huang JD, Fischer A, González-Espinosa C, de Saint Basile G, Blank U, Ménasché G.

J Cell Biol. 2016 Oct 24;215(2):203-216.

18.

Gene-corrected human Munc13-4-deficient CD8+ T cells can efficiently restrict EBV-driven lymphoproliferation in immunodeficient mice.

Soheili T, Rivière J, Ricciardelli I, Durand A, Verhoeyen E, Derrien AC, Lagresle-Peyrou C, de Saint Basile G, Cosset FL, Amrolia P, André-Schmutz I, Cavazzana M.

Blood. 2016 Dec 15;128(24):2859-2862. Epub 2016 Oct 31. No abstract available.

19.

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

Leclerc-Mercier S, Lemoine R, Bigorgne AE, Sepulveda F, Leveau C, Fischer A, Mahlaoui N, Hadj-Rabia S, de Saint Basile G.

Br J Dermatol. 2016 Nov;175(5):1061-1064. doi: 10.1111/bjd.14644. Epub 2016 Aug 31. No abstract available.

PMID:
27059536
20.

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, André-Schmutz I.

J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. doi: 10.1016/j.jaci.2016.04.032. Epub 2016 Jun 4.

PMID:
27405666
21.

Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice.

Maschalidi S, Sepulveda FE, Garrigue A, Fischer A, de Saint Basile G.

Blood. 2016 Jul 7;128(1):60-71. doi: 10.1182/blood-2016-02-700013. Epub 2016 May 24.

22.

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

Sepulveda FE, Garrigue A, Maschalidi S, Garfa-Traore M, Ménasché G, Fischer A, de Saint Basile G.

Blood. 2016 Apr 28;127(17):2113-21. doi: 10.1182/blood-2015-12-688960. Epub 2016 Feb 10.

23.

Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis.

de Saint Basile G, Sepulveda FE, Maschalidi S, Fischer A.

F1000Res. 2015 Sep 30;4(F1000 Faculty Rev):930. doi: 10.12688/f1000research.6754.1. eCollection 2015. Review.

24.

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

Sepulveda FE, Maschalidi S, Vosshenrich CA, Garrigue A, Kurowska M, Ménasche G, Fischer A, Di Santo JP, de Saint Basile G.

Blood. 2015 Feb 26;125(9):1427-34. doi: 10.1182/blood-2014-09-602946. Epub 2014 Dec 18.

25.

LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.

Sepulveda FE, Burgess A, Heiligenstein X, Goudin N, Ménager MM, Romao M, Côte M, Mahlaoui N, Fischer A, Raposo G, Ménasché G, de Saint Basile G.

Traffic. 2015 Feb;16(2):191-203. doi: 10.1111/tra.12244. Epub 2015 Jan 6.

26.

Synaptic release of CCL5 storage vesicles triggers CXCR4 surface expression promoting CTL migration in response to CXCL12.

Franciszkiewicz K, Boutet M, Gauthier L, Vergnon I, Peeters K, Duc O, Besse B, de Saint Basile G, Chouaib S, Mami-Chouaib F.

J Immunol. 2014 Nov 15;193(10):4952-61. doi: 10.4049/jimmunol.1401184. Epub 2014 Oct 10.

27.

Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion.

Yılmaz M, Çağdaş D, Grandin V, Altıntaş DU, Tezcan İ, de Saint Basile G, Sanal Ö.

Pediatr Allergy Immunol. 2014 Dec;25(8):817-9. doi: 10.1111/pai.12285. Epub 2014 Oct 31. No abstract available.

PMID:
25283056
28.

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.

Lemoine R, Pachlopnik-Schmid J, Farin HF, Bigorgne A, Debré M, Sepulveda F, Héritier S, Lemale J, Talbotec C, Rieux-Laucat F, Ruemmele F, Morali A, Cathebras P, Nitschke P, Bole-Feysot C, Blanche S, Brousse N, Picard C, Clevers H, Fischer A, de Saint Basile G.

J Allergy Clin Immunol. 2014 Dec;134(6):1354-1364.e6. doi: 10.1016/j.jaci.2014.07.019. Epub 2014 Aug 28.

PMID:
25174867
29.

Motor neuronopathy in Chediak-Higashi syndrome.

Mathis S, Cintas P, de Saint-Basile G, Magy L, Funalot B, Vallat JM.

J Neurol Sci. 2014 Sep 15;344(1-2):203-7. doi: 10.1016/j.jns.2014.06.026. Epub 2014 Jun 21.

PMID:
25043664
30.

Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.

Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S.

Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28.

31.

Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice.

Jessen B, Kögl T, Sepulveda FE, de Saint Basile G, Aichele P, Ehl S.

Front Immunol. 2013 Dec 16;4:448. doi: 10.3389/fimmu.2013.00448. eCollection 2013.

32.

Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.

Lorenzi L, Tabellini G, Vermi W, Moratto D, Porta F, Notarangelo LD, Patrizi O, Sozzani S, de Saint Basile G, Latour S, Pace D, Lonardi S, Facchetti F, Badolato R, Parolini S.

PLoS One. 2013 Nov 26;8(11):e80131. doi: 10.1371/journal.pone.0080131. eCollection 2013.

33.

TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

Bigorgne AE, Farin HF, Lemoine R, Mahlaoui N, Lambert N, Gil M, Schulz A, Philippet P, Schlesser P, Abrahamsen TG, Oymar K, Davies EG, Ellingsen CL, Leteurtre E, Moreau-Massart B, Berrebi D, Bole-Feysot C, Nischke P, Brousse N, Fischer A, Clevers H, de Saint Basile G.

J Clin Invest. 2014 Jan;124(1):328-37.

34.

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S.

Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.

35.

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome.

Mahlaoui N, Pellier I, Mignot C, Jais JP, Bilhou-Nabéra C, Moshous D, Neven B, Picard C, de Saint-Basile G, Cavazzana-Calvo M, Blanche S, Fischer A.

Blood. 2013 Feb 28;121(9):1510-6. doi: 10.1182/blood-2012-08-448118. Epub 2012 Dec 20.

36.

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").

Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G.

J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10.

37.

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

Sepulveda FE, Debeurme F, Ménasché G, Kurowska M, Côte M, Pachlopnik Schmid J, Fischer A, de Saint Basile G.

Blood. 2013 Jan 24;121(4):595-603. doi: 10.1182/blood-2012-07-440339. Epub 2012 Nov 16.

38.

Persistence of natural killer cells with expansion of a hypofunctional CD56-CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3-deficient severe combined immunodeficiency.

Farnault L, Chambost H, Michel G, Thuret I, de Saint Basile G, Fischer A, Picard C, Picard C, Orlanducci F, Farnarier C, Moretta A, Olive D.

J Allergy Clin Immunol. 2013 Apr;131(4):1230-3, 1233.e1-2. doi: 10.1016/j.jaci.2012.08.047. Epub 2012 Oct 12. No abstract available.

PMID:
23069490
39.
40.

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.

Crequer A, Picard C, Patin E, D'Amico A, Abhyankar A, Munzer M, Debré M, Zhang SY, de Saint-Basile G, Fischer A, Abel L, Orth G, Casanova JL, Jouanguy E.

PLoS One. 2012;7(8):e44010. doi: 10.1371/journal.pone.0044010. Epub 2012 Aug 27.

41.

Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

Cağdaş D, Ozgür TT, Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O.

Eur J Pediatr. 2012 Oct;171(10):1527-31. Epub 2012 Jun 19.

PMID:
22711375
42.

Munc13-4*rab27 complex tethers secretory lysosomes at the plasma membrane.

Elstak ED, Neeft M, Nehme NT, Callebaut I, de Saint Basile G, van der Sluijs P.

Commun Integr Biol. 2012 Jan 1;5(1):64-7.

43.

CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis.

Deiva K, Mahlaoui N, Beaudonnet F, de Saint Basile G, Caridade G, Moshous D, Mikaeloff Y, Blanche S, Fischer A, Tardieu M.

Neurology. 2012 Apr 10;78(15):1150-6. doi: 10.1212/WNL.0b013e31824f800a. Epub 2012 Mar 14.

PMID:
22422896
44.

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

Kurowska M, Goudin N, Nehme NT, Court M, Garin J, Fischer A, de Saint Basile G, Ménasché G.

Blood. 2012 Apr 26;119(17):3879-89. doi: 10.1182/blood-2011-09-382556. Epub 2012 Feb 3. Erratum in: Blood. 2014 Feb 27;123(9):1432.

45.

Inherited defects causing hemophagocytic lymphohistiocytic syndrome.

de Saint Basile G, Ménasché G, Latour S.

Ann N Y Acad Sci. 2011 Dec;1246:64-76. doi: 10.1111/j.1749-6632.2011.06307.x.

PMID:
22236431
46.

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.

Nehme NT, Schmid JP, Debeurme F, André-Schmutz I, Lim A, Nitschke P, Rieux-Laucat F, Lutz P, Picard C, Mahlaoui N, Fischer A, de Saint Basile G.

Blood. 2012 Apr 12;119(15):3458-68. doi: 10.1182/blood-2011-09-378364. Epub 2011 Dec 14.

47.

Control of Plasmodium falciparum erythrocytic cycle: γδ T cells target the red blood cell-invasive merozoites.

Costa G, Loizon S, Guenot M, Mocan I, Halary F, de Saint-Basile G, Pitard V, Déchanet-Merville J, Moreau JF, Troye-Blomberg M, Mercereau-Puijalon O, Behr C.

Blood. 2011 Dec 22;118(26):6952-62. doi: 10.1182/blood-2011-08-376111. Epub 2011 Nov 1.

48.

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.

Yu GP, Nadeau KC, Berk DR, de Saint Basile G, Lambert N, Knapnougel P, Roberts J, Kavanau K, Dunn E, Stiehm ER, Lewis DB, Umetsu DT, Puck JM, Cowan MJ.

Pediatr Transplant. 2011 Nov;15(7):733-41. doi: 10.1111/j.1399-3046.2011.01563.x. Epub 2011 Aug 23.

49.

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.

Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T.

Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512.

50.

The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane.

Elstak ED, Neeft M, Nehme NT, Voortman J, Cheung M, Goodarzifard M, Gerritsen HC, van Bergen En Henegouwen PM, Callebaut I, de Saint Basile G, van der Sluijs P.

Blood. 2011 Aug 11;118(6):1570-8. doi: 10.1182/blood-2011-02-339523. Epub 2011 Jun 21.

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