{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T10:20:29Z","timestamp":1789986029971,"version":"4.0.1"},"reference-count":44,"publisher":"National Academy of Sciences","issue":"23","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2001,11,6]]},"abstract":"<jats:p>\n                    Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are rare autosomal recessive disorders associated with a defect in the nucleotide excision repair (NER) pathway required for the removal of DNA damage induced by UV light and distorting chemical adducts. Although progressive neurological dysfunction is one of the hallmarks of CS and of some groups of XP patients, the causative mechanisms are largely unknown. Here we show that mice lacking both the\n                    <jats:italic>XPA<\/jats:italic>\n                    (XP-group A) and\n                    <jats:italic>CSB<\/jats:italic>\n                    (CS-group B) genes in contrast to the single mutants display severe growth retardation, ataxia, and motor dysfunction during early postnatal development. Their cerebella are hypoplastic and showed impaired foliation and stunted Purkinje cell dendrites. Reduced neurogenesis and increased apoptotic cell death occur in the cerebellar external granular layer. These findings suggest that\n                    <jats:italic>XPA<\/jats:italic>\n                    and\n                    <jats:italic>CSB<\/jats:italic>\n                    have additive roles in the mouse nervous system and support a crucial role for these genes in normal brain development.\n                  <\/jats:p>","DOI":"10.1073\/pnas.231329598","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:31:44Z","timestamp":1027679504000},"page":"13379-13384","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":91,"title":["Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne Syndrome Group B DNA repair genes"],"prefix":"10.1073","volume":"98","author":[{"given":"Machiko","family":"Murai","sequence":"first","affiliation":[{"name":"Division of Protein Biosynthesis, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Division of Cellular Genetics, Institute for Molecular and Cellular Biology, Osaka University, 1-3 Yamadaoka, Suita, Osaka 565-0871, Japan; and Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University, Rotterdam P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Enokido","sequence":"additional","affiliation":[{"name":"Division of Protein Biosynthesis, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Division of Cellular Genetics, Institute for Molecular and Cellular Biology, Osaka University, 1-3 Yamadaoka, Suita, Osaka 565-0871, Japan; and Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University, Rotterdam P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoko","family":"Inamura","sequence":"additional","affiliation":[{"name":"Division of Protein Biosynthesis, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Division of Cellular Genetics, Institute for Molecular and Cellular Biology, Osaka University, 1-3 Yamadaoka, Suita, Osaka 565-0871, Japan; and Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University, Rotterdam P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masafumi","family":"Yoshino","sequence":"additional","affiliation":[{"name":"Division of Protein Biosynthesis, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Division of Cellular Genetics, Institute for Molecular and Cellular Biology, Osaka University, 1-3 Yamadaoka, Suita, Osaka 565-0871, Japan; and Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University, Rotterdam P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshimichi","family":"Nakatsu","sequence":"additional","affiliation":[{"name":"Division of Protein Biosynthesis, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Division of Cellular Genetics, Institute for Molecular and Cellular Biology, Osaka University, 1-3 Yamadaoka, Suita, Osaka 565-0871, Japan; and Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University, Rotterdam P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gijsbertus T. J.","family":"van der Horst","sequence":"additional","affiliation":[{"name":"Division of Protein Biosynthesis, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Division of Cellular Genetics, Institute for Molecular and Cellular Biology, Osaka University, 1-3 Yamadaoka, Suita, Osaka 565-0871, Japan; and Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University, Rotterdam P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan H. J.","family":"Hoeijmakers","sequence":"additional","affiliation":[{"name":"Division of Protein Biosynthesis, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Division of Cellular Genetics, Institute for Molecular and Cellular Biology, Osaka University, 1-3 Yamadaoka, Suita, Osaka 565-0871, Japan; and Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University, Rotterdam P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoji","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Division of Protein Biosynthesis, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Division of Cellular Genetics, Institute for Molecular and Cellular Biology, Osaka University, 1-3 Yamadaoka, Suita, Osaka 565-0871, Japan; and Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University, Rotterdam P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Hatanaka","sequence":"additional","affiliation":[{"name":"Division of Protein Biosynthesis, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Division of Cellular Genetics, Institute for Molecular and Cellular Biology, Osaka University, 1-3 Yamadaoka, Suita, Osaka 565-0871, Japan; and Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University, Rotterdam P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2001,10,30]]},"reference":[{"key":"e_1_3_3_1_2","first-page":"677","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Bootsma D","year":"2001","unstructured":"D Bootsma, K H Kraemer, J E Cleaver, J H J Hoeijmakers The Metabolic and Molecular Bases of Inherited Disease, eds C R Scriver, A L Beaudet, W S Sly, D Valle (McGraw\u2013Hill, New York), pp. 677\u2013703 (2001)."},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.7.768"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420115"},{"key":"e_1_3_3_4_2","first-page":"677","volume":"50","author":"Greenhaw G A","year":"1992","unstructured":"G A Greenhaw, A Hebert, M E Duke-Woodside, I J Butler, J T Hecht, J E Cleaver, G H Thomas, W A Horton Am J Hum Genet 50, 677\u2013689 (1992).","journal-title":"Am J Hum 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