Citations for
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
Pannicke U, Hönig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K.
Nat Genet 41(1):101-5. Epub 2008 Nov 30. 2009
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.
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, Mullikin JC, Noroski LM, Besse C, Wulffraat NM, Ferster A, Abecasis MM, Calvo F, Petit C, Candotti F, Abel L, Fischer A, Cavazzana-Calvo M.
Nat Genet 41(1):106-11. Epub 2008 Nov 30. 2009
AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10.
Lee HJ, Pyo JO, Oh Y, Kim HJ, Hong SH, Jeon YJ, Kim H, Cho DH, Woo HN, Song S, Nam JH, Kim HJ, Kim KS, Jung YK.
Nat Cell Biol 9(11):1303-1310. Epub 2007 Oct 21. 2007
cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2.
Noma T, Song S, Yoon YS, Tanaka S, Nakazawa A.
Biochim Biophys Acta 1395(1):34-9. 1998
Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues.
Lee Y, Kim JW, Lee SM, Kim HJ, Lee KS, Park C, Choe IS.
J Biochem (Tokyo) 123(1):47-54. 1998
Gene order and localization of enzyme loci on the short arm of chromosome 1.
Carritt B, King J, Welch HM.
Ann Hum Genet 46 : 329-335. 1982
Mapping chromosomes 1 and 2 employing a 1/2 translocation in somatic cell hybrids.
Shows TB, et al.
Cytogenet Cell Genet 14 : 251-255. 1975
Assignment of the second locus of adenylate kinase to chromosome 1p : Preliminary data.
Nguyen Van Cong, et al.
Cytogenet Cell Genet 13 : 173-178. 1974
Existence probable d'un second locus de AK liŽ au groupe PGM1-peptidase C.
Nguyen Van Cong, et al.
Ann Genet 15 : 213-218. 1972