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Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).
Klein C. Klein C. J Clin Immunol. 2017 Feb;37(2):117-122. doi: 10.1007/s10875-016-0358-2. Epub 2016 Dec 10. J Clin Immunol. 2017. PMID: 27943080 Review.
This review is focused on the SCN variant caused by mutations in HCLS1 Associated Protein X-1 (HAX1) (SCN3, "Kostmann Disease"). HAX1 is a ubiquitously expressed protein with pleotropic functions, including control of cellul …
This review is focused on the SCN variant caused by mutations in HCLS1 Associated Protein X-1 (HAX1 …
Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.
Quatrana A, Morini E, Tiano F, Vancheri C, Panarello L, Romano S, Marcotulli C, Casali C, Mariotti C, Mongelli A, Fichera M, Rufini A, Condò I, Novelli G, Testi R, Amati F, Malisan F. Quatrana A, et al. Hum Mol Genet. 2022 Jun 22;31(12):2010-2022. doi: 10.1093/hmg/ddac005. Hum Mol Genet. 2022. PMID: 35015850
Moreover, a significant negative correlation between hsa-miR223-3p expression and HAX-1 (HCLS1-associated protein X-1) at mRNA and protein level was observed in all FRDA patients. ...
Moreover, a significant negative correlation between hsa-miR223-3p expression and HAX-1 (HCLS1-associated protein X …
Identification of the Functional Autophagy-Regulatory Domain in HCLS1-Associated Protein X-1 That Resists Against Oxidative Stress.
Li YL, Cai WF, Wang L, Liu GS, Paul C, Jiang L, Wang B, Gao X, Wang Y, Wu SZ. Li YL, et al. DNA Cell Biol. 2018 May;37(5):432-441. doi: 10.1089/dna.2017.3873. Epub 2018 Feb 20. DNA Cell Biol. 2018. PMID: 29461873 Free PMC article.
HCLS1 Associated Protein X-1 (HAX1) promotes cell survival through attenuation of the damaged signals from endoplasmic reticulum and mitochondria, which are known as prominent intracellular compartments for the autophagic process under st …
HCLS1 Associated Protein X-1 (HAX1) promotes cell survival through attenuation of the damaged sign …
Interactions among HCLS1, HAX1 and LEF-1 proteins are essential for G-CSF-triggered granulopoiesis.
Skokowa J, Klimiankou M, Klimenkova O, Lan D, Gupta K, Hussein K, Carrizosa E, Kusnetsova I, Li Z, Sustmann C, Ganser A, Zeidler C, Kreipe HH, Burkhardt J, Grosschedl R, Welte K. Skokowa J, et al. Nat Med. 2012 Oct;18(10):1550-9. doi: 10.1038/nm.2958. Epub 2012 Sep 23. Nat Med. 2012. PMID: 23001182 Free PMC article.
In patients with severe congenital neutropenia, inherited mutations in the gene encoding HCLS1-associated protein X-1 (HAX1) lead to profound defects in G-CSF-triggered phosphorylation of HCLS1 and subsequently to reduced autoregulation a …
In patients with severe congenital neutropenia, inherited mutations in the gene encoding HCLS1-associated protein X …
HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation.
Fan Y, Murgia M, Linder MI, Mizoguchi Y, Wang C, Łyszkiewicz M, Ziȩtara N, Liu Y, Frenz S, Sciuccati G, Partida-Gaytan A, Alizadeh Z, Rezaei N, Rehling P, Dennerlein S, Mann M, Klein C. Fan Y, et al. J Clin Invest. 2022 May 2;132(9):e153153. doi: 10.1172/JCI153153. J Clin Invest. 2022. PMID: 35499078 Free PMC article.
The relevance of molecular mechanisms governing mitochondrial proteostasis to the differentiation and function of hematopoietic and immune cells is largely elusive. Through dissection of the network of proteins related to HCLS1-associated protein X …
The relevance of molecular mechanisms governing mitochondrial proteostasis to the differentiation and function of hematopoietic and immune c …
HAX1 maintains the glioma progression in hypoxia through promoting mitochondrial fission.
Lin J, Wang Y, Lin Z. Lin J, et al. J Cell Mol Med. 2021 Dec;25(24):11170-11184. doi: 10.1111/jcmm.17038. Epub 2021 Nov 10. J Cell Mol Med. 2021. PMID: 34755451 Free PMC article.
HCLS1-associated protein X-1 (HAX1), an anti-apoptotic molecular, overexpresses in glioma. However, the role of HAX1 in glioma cell surviving in hypoxic environment remains unclear. ...
HCLS1-associated protein X-1 (HAX1), an anti-apoptotic molecular, overexpresses in glioma. However …
The interactome of multifunctional HAX1 protein suggests its role in the regulation of energy metabolism, de-aggregation, cytoskeleton organization and RNA-processing.
Wakula M, Balcerak A, Rubel T, Chmielarczyk M, Konopinski R, Lyczek F, Grzybowska EA. Wakula M, et al. Biosci Rep. 2020 Nov 27;40(11):BSR20203094. doi: 10.1042/BSR20203094. Biosci Rep. 2020. PMID: 33146709 Free PMC article.
HCLS1-associated protein X-1 (HAX1) is a multifunctional protein involved in many cellular processes, including apoptosis, cell migration and calcium homeostasis, but its mode of action still remains obscure. ...By characterizing …
HCLS1-associated protein X-1 (HAX1) is a multifunctional protein involved in many cellular …
Gene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells.
Pittermann E, Lachmann N, MacLean G, Emmrich S, Ackermann M, Göhring G, Schlegelberger B, Welte K, Schambach A, Heckl D, Orkin SH, Cantz T, Klusmann JH. Pittermann E, et al. Blood Adv. 2017 Jun 2;1(14):903-914. doi: 10.1182/bloodadvances.2016003798. eCollection 2017 Jun 13. Blood Adv. 2017. PMID: 29296734 Free PMC article.
Severe congenital neutropenia (SCN, Kostmann disease) is a heritable disorder characterized by a granulocytic maturation arrest. Biallelic mutations in HCLS1 associated protein X-1 (HAX1) are frequently detected in affected individuals, i …
Severe congenital neutropenia (SCN, Kostmann disease) is a heritable disorder characterized by a granulocytic maturation arrest. Biallelic m …
Endoplasmic reticulum (ER) stress triggers Hax1-dependent mitochondrial apoptotic events in cardiac cells.
Abdelwahid E, Li H, Wu J, Irioda AC, de Carvalho KA, Luo X. Abdelwahid E, et al. Apoptosis. 2016 Nov;21(11):1227-1239. doi: 10.1007/s10495-016-1286-6. Apoptosis. 2016. PMID: 27654581 Free PMC article.
Recent investigations have provided evidences that the prosurvival protein HCLS1-associated protein X-1 (Hax1) protein is intimately associated with the pathogenesis of heart disease, mitochondrial biology, and protection fr …
Recent investigations have provided evidences that the prosurvival protein HCLS1-associated protein X- …
19 results