• Deline ML, Grashei M, van Heijster FHA, Schilling F, Straub J, Fromme T. Adenylate kinase derived ATP shapes respiration and calcium storage of isolated mitochondria. Biochim Biophys Acta Bioenerg. 2021;1862(7):148409.

    CAS 
    Article 

    Google Scholar
     

  • Chou J, Alazami AM, Jaber F, Hoyos-Bachiloglu R, Jones J, Weeks S, Alosaimi MF, Bainter W, Cangemi B, Badran YR, et al. Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B cell activation. J Allergy Clin Immunol. 2019;146(1):192–202.

    Article 

    Google Scholar
     

  • Kong J, Li J, Lu J, Li W, Wang W. Role of substrate-product frustration on enzyme functional dynamics. Phys Rev E. 2019;100(5–1):052409.

    CAS 
    Article 

    Google Scholar
     

  • Muller WEG, Wang S, Neufurth M, Kokkinopoulou M, Feng Q, Schroder HC, Wang X. Polyphosphate as a donor of high-energy phosphate for the synthesis of ADP and ATP. J Cell Sci. 2017;130(16):2747–56.

    CAS 
    PubMed 

    Google Scholar
     

  • Wang J, Peng C, Yu Y, Chen Z, Xu Z, Cai T, Shao Q, Shi J, Zhu W. Exploring conformational change of adenylate kinase by replica exchange molecular dynamic simulation. Biophys J. 2020;118(5):1009–18.

    CAS 
    Article 

    Google Scholar
     

  • Nair S, Strohecker AM, Persaud AK, Bissa B, Muruganandan S, McElroy C, Pathak R, Williams M, Raj R, Kaddoumi A, et al. Adult stem cell deficits drive Slc29a3 disorders in mice. Nat Commun. 2019;10(1):2943.

    Article 

    Google Scholar
     

  • Panayiotou C, Solaroli N, Xu Y, Johansson M, Karlsson A. The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes. Biochem J. 2011;433(3):527–34.

    CAS 
    Article 

    Google Scholar
     

  • Lagresle-Peyrou C, Six EM, Picard C, Rieux-Laucat F, Michel V, Ditadi A, Demerens-de Chappedelaine C, Morillon E, Valensi F, Simon-Stoos KL, et al. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet. 2009;41(1):106–11.

    CAS 
    Article 

    Google Scholar
     

  • Fermo E, Bianchi P, Vercellati C, Micheli S, Marcello AP, Portaleone D, Zanella A. A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia. Blood Cells Mol Dis. 2004;33(2):146–9.

    CAS 
    Article 

    Google Scholar
     

  • Roy NB, Wilson EA, Henderson S, Wray K, Babbs C, Okoli S, Atoyebi W, Mixon A, Cahill MR, Carey P, et al. A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias. Br J Haematol. 2016;175(2):318–30.

    CAS 
    Article 

    Google Scholar
     

  • Kedar PS, Gupta V, Dongerdiye R, Chiddarwar A, Warang P, Madkaikar MR. Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients. J Clin Pathol. 2019;72(1):81–5.

    CAS 
    Article 

    Google Scholar
     

  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.

    Article 

    Google Scholar
     

  • Dongerdiye R, Kamat P, Jain P, Warang P, Devendra R, Wasekar N, Sharma R, Mhaskar K, Madkaikar MR, Manglani MV, et al. Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A). J Clin Pathol. 2019;72(6):393–8.

    CAS 
    Article 

    Google Scholar
     

  • Matsuura S, Igarashi M, Tanizawa Y, Yamada M, Kishi F, Kajii T, Fujii H, Miwa S, Sakurai M, Nakazawa A. Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase. J Biol Chem. 1989;264(17):10148–55.

    CAS 
    Article 

    Google Scholar
     

  • Bianchi P, Zappa M, Bredi E, Vercellati C, Pelissero G, Barraco F, Zanella A. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 –> Stop, CGA –> TGA) associated with chronic haemolytic anaemia. Br J Haematol. 1999;105(1):75–9.

    CAS 
    Article 

    Google Scholar
     

  • Qualtieri A, Pedace V, Bisconte MG, Bria M, Gulino B, Andreoli V, Brancati C. Severe erythrocyte adenylate kinase deficiency due to homozygous A–>G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia. Br J Haematol. 1997;99(4):770–6.

    CAS 
    Article 

    Google Scholar
     

  • Corrons JL, Garcia E, Tusell JJ, Varughese KI, West C, Beutler E. Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. Blood. 2003;102(1):353–6.

    CAS 
    Article 

    Google Scholar
     

  • Niizuma H, Kanno H, Sato A, Ogura H, Imaizumi M. Splenectomy resolves hemolytic anemia caused by adenylate kinase deficiency. Pediatr Int. 2017;59(2):228–30.

    Article 

    Google Scholar
     

  • Dongerdiye R, Sampagar A, Devendra R, Warang P, Kedar P. Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family. BMC Med Genomics. 2021;14(1):191.

    CAS 
    Article 

    Google Scholar
     

  • Klepinin A, Zhang S, Klepinina L, Rebane-Klemm E, Terzic A, Kaambre T, Dzeja P. Adenylate kinase and metabolic signaling in cancer cells. Front Oncol. 2020;10:660.

    Article 

    Google Scholar
     

  • Abrusci P, Chiarelli LR, Galizzi A, Fermo E, Bianchi P, Zanella A, Valentini G. Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia. Exp Hematol. 2007;35(8):1182–9.

    CAS 
    Article 

    Google Scholar
     

  • Gomez-Gonzalez V, Docampo-Alvarez B, Cabeza O, Fedorov M, Lynden-Bell RM, Gallego LJ, Varela LM. Molecular dynamics simulations of the structure and single-particle dynamics of mixtures of divalent salts and ionic liquids. J Chem Phys. 2015;143(12):124507.

    Article 

    Google Scholar
     

  • Chen H, Qian Y, Yu S, Xiao D, Guo X, Wang Q, Hao L, Yan K, Lu Y, Dong X, et al. Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants. Eur J Med Genet. 2019;62(2):149–60.

    Article 

    Google Scholar
     

  • Beutler E, Carson D, Dannawi H, Forman L, Kuhl W, West C, Westwood B. Metabolic compensation for profound erythrocyte adenylate kinase deficiency. A hereditary enzyme defect without hemolytic anemia. J Clin Invest. 1983;72(2):648–55.

    CAS 
    Article 

    Google Scholar
     

  • Janssen E, de Groof A, Wijers M, Fransen J, Dzeja PP, Terzic A, Wieringa B. Adenylate kinase 1 deficiency induces molecular and structural adaptations to support muscle energy metabolism. J Biol Chem. 2003;278(15):12937–45.

    CAS 
    Article 

    Google Scholar
     

  • Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, et al. Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019;24(7):1027–39.

    CAS 
    Article 

    Google Scholar
     

  • Toren A, Brok-Simoni F, Ben-Bassat I, Holtzman F, Mandel M, Neumann Y, Ramot B, Rechavi G, Kende G. Congenital haemolytic anaemia associated with adenylate kinase deficiency. Br J Haematol. 1994;87(2):376–80.

    CAS 
    Article 

    Google Scholar
     

  • Boivin P, Galand C, Hakim J, Simony D, Seligman M. A new erythroenzymopathy: congenital non-spherocytic hemolytic anemia and hereditary erythrocytic adenylate kinase deficiency. Presse Med. 1971;79(6):215–8.

    CAS 
    PubMed 

    Google Scholar
     

  • Muzammal M, Ali MZ, Brugger B, Blatterer J, Ahmad S, Taj S, Shah SK, Khan S, Enzinger C, Petek E, et al. A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family. Metab Brain Dis. 2022;37(1):243–52.

    CAS 
    Article 

    Google Scholar
     

  • Ajzner EE, Balogh I, Szabo T, Marosi A, Haramura G, Muszbek L. Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene. Blood. 2002;99(2):702–5.

    CAS 
    Article 

    Google Scholar
     

  • Kim HJ, Song MJ, Lee KO, Kim SH, Kim HJ. Paternal somatic mosaicism of a novel frameshift mutation in ELANE causing severe congenital neutropenia. Pediatr Blood Cancer. 2015;62(12):2229–31.

    CAS 
    Article 

    Google Scholar
     

  • Park H, Kam TI, Kim Y, Choi H, Gwon Y, Kim C, Koh JY, Jung YK. Neuropathogenic role of adenylate kinase-1 in Abeta-mediated tau phosphorylation via AMPK and GSK3beta. Hum Mol Genet. 2012;21(12):2725–37.

    CAS 
    Article 

    Google Scholar
     

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