Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 update of IUIS Phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42:1508–20.
Fried AJ, Bonilla FA. Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections. Clin Microbiol Rev. 2009;22:396–414.
Article PubMed PubMed Central CAS Google Scholar
Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S, et al. Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol. 2009;27:199–227.
Article PubMed CAS Google Scholar
Amirifar P, Yazdani R, Azizi G, Ranjouri MR, Durandy A, Plebani A et al. F Candotti editor 2021 Known and potential molecules associated with altered B cell development leading to predominantly antibody deficiencies. Pediatr Allergy Immunol 32 1601–15.
Article PubMed CAS Google Scholar
Baris S, Abolhassani H, Massaad MJ, Al-Nesf M, Chavoshzadeh Z, Keles S, et al. The Middle East and North Africa Diagnosis and management guidelines for inborn errors of immunity. J Allergy Clin Immunol Pract. 2023;11:158–e18011.
Article PubMed CAS Google Scholar
Durandy A, Kracker S, Fischer A. Primary antibody deficiencies. Nat Rev Immunol. 2013;13:519–33.
Article PubMed CAS Google Scholar
Kroll J, Jaime Tobón LM, Vogl C, Neef J, Kondratiuk I, König M, et al. Endophilin-A regulates presynaptic ca 2+ influx and synaptic vesicle recycling in auditory hair cells. EMBO J. 2019;38:e100116.
Article PubMed PubMed Central Google Scholar
Malinova D, Wasim L, Newman R, Martínez-Riaño A, Engels N, Tolar P. Endophilin A2 regulates B‐cell endocytosis and is required for germinal center and humoral responses. EMBO Rep. 2021;22:e51328.
Article PubMed PubMed Central CAS Google Scholar
Gortat A, San-Roman MJ, Vannier C, Schmidt AA. Single point mutation in Bin/Amphiphysin/Rvs (BAR) sequence of Endophilin impairs dimerization, membrane shaping, and Src Homology 3 domain-mediated Partnership. J Biol Chem. 2012;287:4232–47.
Article PubMed CAS Google Scholar
Liu C, zhao, Li F, ya, Lv X, fei, Ma M ming, Li X, yu, Lin C et al. xia,. Endophilin A2 regulates calcium-activated chloride channel activity via selective autophagy-mediated TMEM16A degradation. Acta Pharmacol Sin. 2020;41:208–17.
Boucrot E, Ferreira APA, Almeida-Souza L, Debard S, Vallis Y, Howard G, et al. Endophilin marks and controls a clathrin-independent endocytic pathway. Nature. 2015;517:460–5.
Article PubMed CAS Google Scholar
Milosevic I, Giovedi S, Lou X, Raimondi A, Collesi C, Shen H, et al. Recruitment of Endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after Fission. Neuron. 2011;72:587–601.
Article PubMed PubMed Central CAS Google Scholar
Xie MX, Lai RC, Xiao YB, Zhang X, Cao XY, Tian XY, et al. Endophilin A2 controls touch and mechanical allodynia via kinesin-mediated Piezo2 trafficking. Military Med Res. 2024;11:17.
Baldassarre T, Truesdell P, Craig AW. Endophilin A2 promotes HER2 internalization and sensitivity to trastuzumab-based therapy in HER2-positive breast cancers. Breast Cancer Res. 2017;19:110.
Article PubMed PubMed Central Google Scholar
Baldassarre T, Watt K, Truesdell P, Meens J, Schneider MM, Sengupta SK, et al. Endophilin A2 promotes TNBC Cell Invasion and Tumor Metastasis. Mol Cancer Res. 2015;13:1044–55.
Article PubMed CAS Google Scholar
Norin U, Rintisch C, Meng L, Forster F, Ekman D, Tuncel J, et al. Endophilin A2 deficiency protects rodents from autoimmune arthritis by modulating T cell activation. Nat Commun. 2021;12:610.
Article PubMed PubMed Central CAS Google Scholar
Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, et al. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics. 2009;25:2744–50.
Article PubMed PubMed Central CAS Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.
Article PubMed PubMed Central CAS Google Scholar
Desvignes JP, Bartoli M, Delague V, Krahn M, Miltgen M, Béroud C, et al. VarAFT: a variant annotation and filtration system for human next generation sequencing data. Nucleic Acids Res. 2018;46:W545–53.
Article PubMed PubMed Central CAS Google Scholar
Vázquez-Fonseca L, Schäefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, et al. ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes Myopathy Associated with CoQ Deficiency. JCM. 2019;8:1374.
Article PubMed PubMed Central Google Scholar
Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, et al. ADCK3, an ancestral kinase, is mutated in a form of recessive Ataxia Associated with Coenzyme Q10 Deficiency. Am J Hum Genet. 2008;82:661–72.
Article PubMed PubMed Central CAS Google Scholar
Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013;123:5179–89.
Article PubMed PubMed Central CAS Google Scholar
Yang LQ, Huang AF, Xu WD. Biology of endophilin and it’s role in disease. Front Immunol. 2023;14:1297506.
Article PubMed PubMed Central CAS Google Scholar
McShane AN, Malinova D. The Ins and outs of Antigen Uptake in B cells. Front Immunol. 2022;13:892169.
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