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ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.
Zulato E, Favaretto F, Veronese C, Campanaro S, Marshall JD, Romano S, Cabrelle A, Collin GB, Zavan B, Belloni AS, Rampazzo E, Naggert JK, Abatangelo G, Sicolo N, Maffei P, Milan G, Vettor R. Zulato E, et al. Among authors: favaretto f. PLoS One. 2011 Apr 26;6(4):e19081. doi: 10.1371/journal.pone.0019081. PLoS One. 2011. PMID: 21541333 Free PMC article.
The progression from obesity to type 2 diabetes in Alström syndrome.
Bettini V, Maffei P, Pagano C, Romano S, Milan G, Favaretto F, Marshall JD, Paisey R, Scolari F, Greggio NA, Tosetto I, Naggert JK, Sicolo N, Vettor R. Bettini V, et al. Among authors: favaretto f. Pediatr Diabetes. 2012 Feb;13(1):59-67. doi: 10.1111/j.1399-5448.2011.00789.x. Epub 2011 Jul 3. Pediatr Diabetes. 2012. PMID: 21722283 Free PMC article.
Alström syndrome is associated with short stature and reduced GH reserve.
Romano S, Maffei P, Bettini V, Milan G, Favaretto F, Gardiman M, Marshall JD, Greggio NA, Pozzan GB, Collin GB, Naggert JK, Bronson R, Vettor R. Romano S, et al. Among authors: favaretto f. Clin Endocrinol (Oxf). 2013 Oct;79(4):529-36. doi: 10.1111/cen.12180. Epub 2013 Mar 26. Clin Endocrinol (Oxf). 2013. PMID: 23445176 Free PMC article.
Alström Syndrome: Mutation Spectrum of ALMS1.
Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK. Marshall JD, et al. Among authors: favaretto f. Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18. Hum Mutat. 2015. PMID: 25846608 Free PMC article.
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Astuti D, et al. Among authors: favaretto f. Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1. Hum Mutat. 2017. PMID: 28432734 Free PMC article.
Increased mitochondrial calcium uniporter in adipocytes underlies mitochondrial alterations associated with insulin resistance.
Wright LE, Vecellio Reane D, Milan G, Terrin A, Di Bello G, Belligoli A, Sanna M, Foletto M, Favaretto F, Raffaello A, Mammucari C, Nitti D, Vettor R, Rizzuto R. Wright LE, et al. Among authors: favaretto f. Am J Physiol Endocrinol Metab. 2017 Dec 1;313(6):E641-E650. doi: 10.1152/ajpendo.00143.2016. Epub 2017 Aug 8. Am J Physiol Endocrinol Metab. 2017. PMID: 28790027 Free PMC article.
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