Iaconis D - Search Results

1

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. Boldt K, et al. Among authors: iaconis d. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. Nat Commun. 2016. PMID: 27173435 Free PMC article.

2

The HOPS complex subunit VPS39 controls ciliogenesis through autophagy.

Iaconis D, Crina C, Brillante S, Indrieri A, Morleo M, Franco B. Iaconis D, et al. Hum Mol Genet. 2020 Apr 15;29(6):1018-1029. doi: 10.1093/hmg/ddaa029. Hum Mol Genet. 2020. PMID: 32077937 Free PMC article.

3

The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.

Alfieri M, Iaconis D, Tammaro R, Perone L, Calì G, Nitsch L, Dougherty GW, Ragnini-Wilson A, Franco B. Alfieri M, et al. Among authors: iaconis d. Tissue Cell. 2020 Jun;64:101369. doi: 10.1016/j.tice.2020.101369. Epub 2020 Apr 21. Tissue Cell. 2020. PMID: 32473706

4

The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets.

Iaconis D, Monti M, Renda M, van Koppen A, Tammaro R, Chiaravalli M, Cozzolino F, Pignata P, Crina C, Pucci P, Boletta A, Belcastro V, Giles RH, Surace EM, Gallo S, Pende M, Franco B. Iaconis D, et al. Sci Rep. 2017 Apr 27;7(1):1224. doi: 10.1038/s41598-017-01156-x. Sci Rep. 2017. PMID: 28450740 Free PMC article.

5

Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.

Morleo M, Iaconis D, Chitayat D, Peluso I, Marzella R, Renieri A, Mari F, Franco B. Morleo M, et al. Among authors: iaconis d. Mol Med Rep. 2008 Jan-Feb;1(1):33-9. Mol Med Rep. 2008. PMID: 21479374

6

Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy.

Morleo M, Brillante S, Formisano U, Ferrante L, Carbone F, Iaconis D, Palma A, Buonomo V, Maione AS, Grumati P, Settembre C, Franco B. Morleo M, et al. Among authors: iaconis d. EMBO J. 2021 Feb 15;40(4):e105120. doi: 10.15252/embj.2020105120. Epub 2020 Dec 28. EMBO J. 2021. PMID: 33368531 Free PMC article.

7

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B. Indrieri A, et al. Among authors: d amato i, iaconis d. Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016. Am J Hum Genet. 2012. PMID: 23122588 Free PMC article.

8

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.

Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dollé P, Igarashi P, Franco B. Zullo A, et al. Among authors: iaconis d. Hum Mol Genet. 2010 Jul 15;19(14):2792-803. doi: 10.1093/hmg/ddq180. Epub 2010 May 5. Hum Mol Genet. 2010. PMID: 20444807 Free PMC article.

9

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.

Abramowicz I, Carpenter G, Alfieri M, Colnaghi R, Outwin E, Parent P, Thauvin-Robinet C, Iaconis D, Franco B, O'Driscoll M. Abramowicz I, et al. Among authors: iaconis d. Hum Mol Genet. 2017 Jan 1;26(1):19-32. doi: 10.1093/hmg/ddw364. Hum Mol Genet. 2017. PMID: 27798113

10

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Wimplinger I, et al. Among authors: iaconis d. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 Sep 6. Am J Hum Genet. 2006. PMID: 17033964 Free PMC article.

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