{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T12:31:24Z","timestamp":1774528284112,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,18]],"date-time":"2013-12-18T00:00:00Z","timestamp":1387324800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Coenzyme Q<jats:sub>10<\/jats:sub> (CoQ<jats:sub>10<\/jats:sub>) plays a key role in the exchange of electrons in lysosomal membrane, which contributes to protons\u2019 translocation into the lumen and to the acidification of intra\u2010lysosomal medium, which is essential for the proteolytic function of hydrolases responsible \u2010when deficient\u2010 of a wide range of inherited lysosomal diseases such as Sanfilippo syndromes. Our aim was to evaluate whether treatment with CoQ<jats:sub>10<\/jats:sub> or with an antioxidant cocktail (\u03b1\u2010tocopherol, N\u2010acetylcysteine and \u03b1\u2010lipoic acid) were able to ameliorate the biochemical phenotype in cultured fibroblasts of Sanfilippo patients. Basal CoQ<jats:sub>10<\/jats:sub> was analyzed in fibroblasts and Sanfilippo A patients showed decreased basal levels. However, no dysfunction in the CoQ<jats:sub>10<\/jats:sub> biosynthesis pathways was found, revealing for the first time a secondary CoQ<jats:sub>10<\/jats:sub> deficiency in Sanfilippo A fibroblasts. Cultured fibroblasts from five patients affected by Sanfilippo A and B diseases were treated with CoQ<jats:sub>10<\/jats:sub> and an antioxidant cocktail. Upon CoQ<jats:sub>10<\/jats:sub> treatment, none of the Sanfilippo A fibroblasts increased their residual enzymatic activity, but the two Sanfilippo B cell lines showed a statistically significant increase of their residual activity. The antioxidant treatment had no effect on the residual activity in all tested cell lines. Moreover, one Sanfilippo A and two Sanfilippo B fibroblasts showed a statistically significant reduction of glycosaminoglycans accumulation both, after 50 \u03bcmol\/L CoQ<jats:sub>10<\/jats:sub> and antioxidant treatment. Fibroblasts responsive to treatment enhanced their exocytosis levels. Our results are encouraging as some cellular alterations observed in Sanfilippo syndrome can be partially restored by CoQ<jats:sub>10<\/jats:sub> or other antioxidant treatment in some patients.<\/jats:p>","DOI":"10.1007\/s10545-013-9668-1","type":"journal-article","created":{"date-parts":[[2013,12,17]],"date-time":"2013-12-17T15:01:44Z","timestamp":1387292504000},"page":"439-446","source":"Crossref","is-referenced-by-count":31,"title":["Treatment effect of coenzyme Q<sub>10<\/sub> and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease"],"prefix":"10.1002","volume":"37","author":[{"given":"Leslie","family":"Matalonga","sequence":"first","affiliation":[{"name":"Secci\u00f3 d'Errors Cong\u00e8nits del Metabolisme\u2010IBC, Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular Hospital Cl\u00ednic, IDIBAPS, CIBER de Enfermedades Raras (CIBERER) Edifici Helios III, planta baixa, C\/Mej\u00eda Lequerica s\/n Barcelona 08028 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