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Enzyme deficiency causes abnormal substrate accumulation in lysosomes, leading to progressive and severe neurodegeneration, somatic pathology and early death. There is no cure for MPSIIIC, and development of new therapies is challenging because of the unfeasibility of cross-correction. In this study, we generated a new mouse model of MPSIIIC by targeted disruption of the Hgsnat gene. Successful targeting left LacZ expression under control of the Hgsnat promoter, allowing investigation into sites of endogenous expression, which was particularly prominent in the CNS, but was also detectable in peripheral organs. Signs of CNS storage pathology, including glycosaminoglycan accumulation, lysosomal distension, lysosomal dysfunction and neuroinflammation were detected in 2-month-old animals and progressed with age. Glycosaminoglycan accumulation and ultrastructural changes were also observed in most somatic organs, but lysosomal pathology seemed most severe in liver. Furthermore, HGSNAT-deficient mice had altered locomotor and exploratory activity and shortened lifespan. Hence, this animal model recapitulates human MPSIIIC and provides a useful tool for the study of disease physiopathology and the development of new therapeutic approaches.<\/jats:p>","DOI":"10.1242\/dmm.025171","type":"journal-article","created":{"date-parts":[[2016,8,5]],"date-time":"2016-08-05T01:03:38Z","timestamp":1470359018000},"page":"999-1013","source":"Crossref","is-referenced-by-count":28,"title":["Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC"],"prefix":"10.1242","volume":"9","author":[{"given":"Sara","family":"Marc\u00f3","sequence":"first","affiliation":[{"name":"Center of Animal Biotechnology and Gene Therapy, Universitat Aut\u00f2noma de Barcelona 1 , Bellaterra 08193 , Spain"},{"name":"Universitat Aut\u00f2noma de Barcelona 2 Department of Biochemistry and Molecular Biology , , Bellaterra 08193 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pujol","sequence":"additional","affiliation":[{"name":"Center of Animal Biotechnology and Gene Therapy, Universitat Aut\u00f2noma de Barcelona 1 , Bellaterra 08193 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas 3 , Barcelona 08036 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carles","family":"Roca","sequence":"additional","affiliation":[{"name":"Center of Animal Biotechnology and Gene Therapy, Universitat Aut\u00f2noma de Barcelona 1 , Bellaterra 08193 , Spain"},{"name":"Universitat Aut\u00f2noma de Barcelona 2 Department of Biochemistry and Molecular Biology , , Bellaterra 08193 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas 3 , Barcelona 08036 , 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