{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:11:59Z","timestamp":1790745119599,"version":"4.1.0"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,1,1]]},"DOI":"10.1093\/hmg\/ddi005","type":"journal-article","created":{"date-parts":[[2004,11,3]],"date-time":"2004-11-03T20:13:08Z","timestamp":1099512788000},"page":"49-57","source":"Crossref","is-referenced-by-count":121,"title":["Deficiency of pantothenate kinase 2 ( Pank2 ) in mice leads to retinal degeneration and azoospermia"],"prefix":"10.1093","volume":"14","author":[{"given":"Yien-Ming","family":"Kuo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacque L.","family":"Duncan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shawn K.","family":"Westaway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haidong","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Nune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugene Yujun","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan J.","family":"Hayflick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Gitschier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2004,11,3]]},"reference":[{"key":"key\n\t\t\t\t20171011132101_DDI005C1","doi-asserted-by":"crossref","unstructured":"Zhou, B., Westaway, S.K., Levinson, B., Johnson, M.A., Gitschier, J. and Hayflick, S.J. ( 2001 ) A novel pantothenate kinase gene ( PANK2 ) is defective in Hallervorden\u2013Spatz syndrome. Nat. Genet. , 28 , 345 \u2013349.","DOI":"10.1038\/ng572"},{"key":"key\n\t\t\t\t20171011132101_DDI005C2","doi-asserted-by":"crossref","unstructured":"Dooling, E.C., Schoene, W.C. and Richardson, E.P., Jr ( 1974 ) Hallervorden\u2013Spatz syndrome. Arch. Neurol. , 30 , 70 \u201383.","DOI":"10.1001\/archneur.1974.00490310072012"},{"key":"key\n\t\t\t\t20171011132101_DDI005C3","doi-asserted-by":"crossref","unstructured":"Hortnagel, K., Prokisch, H. and Meitinger, T. ( 2003 ) An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. Hum. Mol. Genet. , 12 , 321 \u2013327.","DOI":"10.1093\/hmg\/ddg026"},{"key":"key\n\t\t\t\t20171011132101_DDI005C4","doi-asserted-by":"crossref","unstructured":"Johnson, M.A., Kuo, Y.M., Westaway, S.K., Parker, S.M., Ching, K.H.L., Gitschier, J. and Hayflick, S.J. ( 2004 ) Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Ann. N.Y. Acad. Sci. , 1012 , 282 \u2013298.","DOI":"10.1196\/annals.1306.023"},{"key":"key\n\t\t\t\t20171011132101_DDI005C5","doi-asserted-by":"crossref","unstructured":"Deng, W. and Lin, H. ( 2002 ) Miwi , a murine homolog of piwi , encodes a cytoplasmic protein essential for spermatogenesis. Dev. Cell , 2 , 819 \u2013830.","DOI":"10.1016\/S1534-5807(02)00165-X"},{"key":"key\n\t\t\t\t20171011132101_DDI005C6","unstructured":"Crawley, J.N. ( 2000 ) What's Wrong with My Mouse?: Behavioral Phenotyping of Transgenic and Knockout Mice . Wiley\u2013Liss, New York, NY, pp. 31 \u201345, (see also pp. 47\u201363)."},{"key":"key\n\t\t\t\t20171011132101_DDI005C7","doi-asserted-by":"crossref","unstructured":"Whiteley, S.J., Young, M.J., Litchfield, T.M., Coffey, P.J. and Lund, R.D. ( 1998 ) Changes in the pupillary light reflex of pigmented royal college of surgeons rats with age. Exp. Eye Res. , 66 , 719 \u2013730.","DOI":"10.1006\/exer.1997.0479"},{"key":"key\n\t\t\t\t20171011132101_DDI005C8","doi-asserted-by":"crossref","unstructured":"Hayflick, S.J., Westaway, S.K., Levinson, B., Zhou, B., Johnson, M.A., Ching, K.H. and Gitschier, J. ( 2003 ) Genetic, clinical, and radiographic delineation of Hallervorden\u2013Spatz syndrome. N. Engl. J. Med. , 348 , 33 \u201340.","DOI":"10.1056\/NEJMoa020817"},{"key":"key\n\t\t\t\t20171011132101_DDI005C9","doi-asserted-by":"crossref","unstructured":"Afshar, K., Gonczy, P., DiNardo, S. and Wasserman, S.A. ( 2001 ) Fumble encodes a pantothenate kinase homolog required for proper mitosis and meiosis in Drosophila melanogaster . Genetics , 157 , 1267 \u20131276.","DOI":"10.1093\/genetics\/157.3.1267"},{"key":"key\n\t\t\t\t20171011132101_DDI005C10","doi-asserted-by":"crossref","unstructured":"Castrillon, D.H., Gonczy, P., Alexander, S., Rawson, R., Eberhart, C.G., Viswanathan, S., DiNardo, S. and Wasserman, S.A. ( 1993 ) Toward a molecular genetic analysis of spermatogenesis in Drosophila melanogaster : characterization of male-sterile mutants generated by single P element mutagenesis. Genetics , 135 , 489 \u2013505.","DOI":"10.1093\/genetics\/135.2.489"},{"key":"key\n\t\t\t\t20171011132101_DDI005C11","doi-asserted-by":"crossref","unstructured":"Nantel, F., Monaco, L., Foulkes, N.S., Masquilier, D., LeMeur, M., Henriksen, K., Dierich, A., Parvinen, M. and Sassone-Corsi, P. ( 1996 ) Spermiogenesis deficiency and germ-cell apoptosis in CREM-mutant mice. Nature , 380 , 159 \u2013162.","DOI":"10.1038\/380159a0"},{"key":"key\n\t\t\t\t20171011132101_DDI005C12","doi-asserted-by":"crossref","unstructured":"Blendy, J.A., Kaestner, K.H., Weinbauer, G.F., Nieschlag, E. and Schutz, G. ( 1996 ) Severe impairment of spermatogenesis in mice lacking the CREM gene. Nature , 380 , 162 \u2013165.","DOI":"10.1038\/380162a0"},{"key":"key\n\t\t\t\t20171011132101_DDI005C13","doi-asserted-by":"crossref","unstructured":"Bosl, M.R., Stein, V., Hubner, C., Zdebik, A.A., Jordt, S.E., Mukhopadhyay, A.K., Davidoff, M.S., Holstein, A.F. and Jentsch, T.J. ( 2001 ) Male germ cells and photoreceptors, both dependent on close cell\u2013cell interactions, degenerate upon ClC-2 Cl(\u2212) channel disruption. EMBO J. , 20 , 1289 \u20131299.","DOI":"10.1093\/emboj\/20.6.1289"},{"key":"key\n\t\t\t\t20171011132101_DDI005C14","doi-asserted-by":"crossref","unstructured":"Duncan, J.L., LaVail, M.M., Yasumura, D., Matthes, M.T., Yang, H., Trautmann, N., Chappelow, A.V., Feng, W., Earp, H.S., Matsushima, G.K. et\u00a0al. ( 2003 ) An RCS-like retinal dystrophy phenotype in mer knockout mice. Invest. Ophthalmol. Vis. Sci. , 44 , 826 \u2013838.","DOI":"10.1167\/iovs.02-0438"},{"key":"key\n\t\t\t\t20171011132101_DDI005C15","doi-asserted-by":"crossref","unstructured":"Lu, Q., Gore, M., Zhang, Q., Camenisch, T., Boast, S., Casagrada, R., Lai, C., Skinner, M.K., Klein, R., Matsushima, G.K. et\u00a0al. ( 1999 ) Tyro-3 family receptors are essential regulators of mammalian spermatogenesis. Nature , 398 , 723 \u2013728.","DOI":"10.1038\/19554"},{"key":"key\n\t\t\t\t20171011132101_DDI005C16","doi-asserted-by":"crossref","unstructured":"Shinohara, T., Orwig, K.E., Avarbock, M.R. and Brinster, R.L. ( 2003 ) Restoration of spermatogenesis in infertile mice by Sertoli cell transplantation. Biol. Reprod. , 68 , 1064 \u20131071.","DOI":"10.1095\/biolreprod.102.009977"},{"key":"key\n\t\t\t\t20171011132101_DDI005C17","doi-asserted-by":"crossref","unstructured":"Ripps, H., Peachey, N.S., Xu, X., Nozell, S.E., Smith, S.B. and Liou, G.I. ( 2000 ) The rhodopsin cycle is preserved in IRBP \u2018knockout\u2019 mice despite abnormalities in retinal structure and function. Vis. Neurosci. , 17 , 97 \u2013105.","DOI":"10.1017\/S095252380017110X"},{"key":"key\n\t\t\t\t20171011132101_DDI005C18","doi-asserted-by":"crossref","unstructured":"Cole, T.B., Wenzel, H.J., Kafer, K.E., Schwartzkroin, P.A. and Palmiter, R.D. ( 1999 ). Elimination of zinc from synaptic vesicles in the intact mouse brain by disruption of the ZnT3 gene. Proc. Natl Acad. Sci. USA , 96 , 1716 \u20131721.","DOI":"10.1073\/pnas.96.4.1716"},{"key":"key\n\t\t\t\t20171011132101_DDI005C19","doi-asserted-by":"crossref","unstructured":"Manabat, C., Han, B.H., Wendland, M., Derugin, N., Fox, C.K., Choi, J., Holtzman, D.M., Ferriero, D.M. and Vexler, Z.S. ( 2003 ) Reperfusion differentially induces caspase-3 activation in ischemic core and penumbra after stroke in immature brain. Stroke , 34 , 207 \u2013213.","DOI":"10.1161\/01.STR.0000047101.87575.3C"},{"key":"key\n\t\t\t\t20171011132101_DDI005C20","doi-asserted-by":"crossref","unstructured":"Lu, B. and Bishop, C.E. ( 2003 ) Late onset of spermatogenesis and gain of fertility in POG-deficient mice indicate that POG is not necessary for the proliferation of spermatogonia. Biol. Reprod. , 69 , 161 \u2013168.","DOI":"10.1095\/biolreprod.102.014654"},{"key":"key\n\t\t\t\t20171011132101_DDI005C21","doi-asserted-by":"crossref","unstructured":"Kuo, Y.M., Gitschier, J. and Packman, S. ( 1997 ) Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum. Mol. Genet. , 6 , 1043 \u20131049.","DOI":"10.1093\/hmg\/6.7.1043"},{"key":"key\n\t\t\t\t20171011132101_DDI005C22","doi-asserted-by":"crossref","unstructured":"LaVail, M.M. and Battelle, B.A. ( 1975 ) Influence of eye pigmentation and light deprivation on inherited retinal dystrophy in the rat. Exp. Eye Res. , 21 , 167 \u2013192.","DOI":"10.1016\/0014-4835(75)90080-9"},{"key":"key\n\t\t\t\t20171011132101_DDI005C23","unstructured":"LaVail, M.M., Gorrin, G.M., Repaci, M.A., Thomas, L.A. and Ginsberg, H.M. ( 1987 ) Genetic regulation of light damage to photoreceptors. Invest. Ophthalmol. Vis. Sci. , 28 , 1043 \u20131048."},{"key":"key\n\t\t\t\t20171011132101_DDI005C24","doi-asserted-by":"crossref","unstructured":"Bok, D., Yasumura, D., Matthes, M.T., Ruiz, A., Duncan, J.L., Chappelow, A.V., Zolutukhin, S., Hauswirth, W. and LaVail, M.M. ( 2002 ) Effects of adeno-associated virus-vectored ciliary neurotrophic factor on retinal structure and function in mice with a P216L rds\/peripherin mutation. Exp. Eye Res. , 74 , 719 \u2013735.","DOI":"10.1006\/exer.2002.1176"},{"key":"key\n\t\t\t\t20171011132101_DDI005C25","doi-asserted-by":"crossref","unstructured":"Vollrath, D., Feng, W., Duncan, J.L., Yasumura, D., D'Cruz, P.M., Chappelow, A., Matthes, M.T., Kay, M.A. and LaVail, M.M. ( 2001 ) Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc. Natl Acad. Sci. USA , 98 , 12584 \u201312589.","DOI":"10.1073\/pnas.221364198"},{"key":"key\n\t\t\t\t20171011132101_DDI005C26","doi-asserted-by":"crossref","unstructured":"Peachey, N.S., Goto, Y., al-Ubaidi, M.R. and Naash, M.I. ( 1993 ) Properties of the mouse cone-mediated electroretinogram during light adaptation. Neurosci. Lett. , 162 , 9 \u201311.","DOI":"10.1016\/0304-3940(93)90547-X"},{"key":"key\n\t\t\t\t20171011132101_DDI005C27","doi-asserted-by":"crossref","unstructured":"Kuo, Y.M., Su, T., Chen, H., Attieh, Z., Syed, B.A., McKie, A.T., Anderson, G.J., Gitschier, J. and Vulpe, C.D. ( 2004 ) Mislocalisation of hephaestin, a multicopper ferroxidase involved in basolateral intestinal iron transport, in the sex linked anaemia mouse. Gut , 53 , 201 \u2013206.","DOI":"10.1136\/gut.2003.019026"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/14\/1\/49\/17242024\/ddi005.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,27]],"date-time":"2021-06-27T11:48:06Z","timestamp":1624794486000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/14\/1\/49\/2355783\/Deficiency-of-pantothenate-kinase-2-Pank2-in-mice"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11,3]]},"references-count":27,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2004,11,3]]},"published-print":{"date-parts":[[2005,1,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddi005","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published-other":{"date-parts":[[2005,1,1]]},"published":{"date-parts":[[2004,11,3]]}}}