Efficient protein targeting to the inner nuclear membrane requires Atlastin-dependent maintenance of ER topology

Autor: Sumit Pawar, Rosemarie Ungricht, Peter Tiefenboeck, Jean-Christophe Leroux, Ulrike Kutay

Publikováno v: eLife, Vol 6 (2017)

Newly synthesized membrane proteins are targeted to the inner nuclear membrane (INM) by diffusion within the membrane system of the endoplasmic reticulum (ER), translocation through nuclear pore complexes (NPCs) and retention on nuclear partners. Usi

Externí odkaz: https://doaj.org/article/900938b06bf7471b821a53e3f3b8e6bc

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

Autor: Christoph B. Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M McNulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A. Connelly, David C. Dale, Ekaterina Deordieva, Morna J. Dorsey, Simon B. Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E. Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M. Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A. Naoum, Suzie A. Noronha, Monia Ouederni, Shuichi Ozono, G. Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O. Sharapova, Katja Sockel, Alla Volokha, Malte von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A. Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L. Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E. Walter

Publikováno v: Journal of Clinical Immunology. 42:1748-1765

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec3dbe757488d15524fabc139819f46
https://doi.org/10.1007/s10875-022-01312-7

Genotype-phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4

Autor: Katarina, Zmajkovicova, Sumit, Pawar, Sabine, Maier-Munsa, Barbara, Maierhofer, Ivana, Wiest, Renato, Skerlj, Arthur G, Taveras, Adriana, Badarau

Publikováno v: Genes and immunity. 23(6)

Warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome is a rare primary immunodeficiency predominantly caused by heterozygous gain-of-function mutations in CXCR4 C-terminus. We assessed genotype-phenotype correlations for known path

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fc4d613faaa8dc45da0660bdbc6df0c6
https://pubmed.ncbi.nlm.nih.gov/36089616

Effects Of Mavorixafor On Functional Impairments Due To A Novel Missense CXCR4 Mutation In A Patient With WHIM-Like Syndrome

Autor: Jolan Walter, Sumit Pawar, Chi Nguyen, Katarina Zmajkovicova, Svetlana Sharapova, Ivana Wiest, Halenya Monticelli, Sabine Maier-Munsa, Christoph Geier, Neal Sondheimer, Boglarka Ujhazi, Sumai Gordon, Maryssa Ellison, Arthur Taveras, Adriana Badarau, Teresa Tarrant

Publikováno v: Journal of Allergy and Clinical Immunology. 149:AB20

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::669f621ed4725c722cbe20fea70cfca8
https://doi.org/10.1016/j.jaci.2021.12.102

Characterization of a Novel Missense CXCR4 Mutation in a Patient with WHIM-like Syndrome

Autor: Sumit Pawar, Christoph B. Geier, Sabine Maier-Munsa, Maryssa Ellison, Svetlana O. Sharapova, Chi Nguyen, Boglarka Ujhazi, Ivana Wiest, Neal Sondheimer, Arthur G. Taveras, Adriana Badarau, Jolan E. Walter, Halenya Monticelli, Katarina Zmajkovicova, Teresa K. Tarrant, Sumai Gordon

Publikováno v: Blood. 138:4309-4309

Background: WHIM (Warts, Hypogammaglobulinemia, Infections, Myelokathexis) syndrome is a rare primary immunodeficiency with a heterogeneous presentation of symptoms defining its acronym as well as panleukopenia. The majority of cases are inherited in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::292f03c0f0462ff7161a6ca280220a0d
https://doi.org/10.1182/blood-2021-153062