PUBLICATIONS
August 22, 2019
Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription.
Suh J, Romano DM, Nitschke L, Herrick SP, DiMarzio BA, Dzhala V, Bae JS, Oram MK, Zheng Y, Hooli B, Mullin K, Gennarino VA, Wasco W, Schmahmann JD, Albers MW, Zoghbi HY, Tanzi RE.
Cell, Aug 22;178:1159-1175.
February 22, 2018
A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures.
Gennarino VA†, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RL, Lichtarge O, Tang J, Boycott KM, Holder JL, and Zoghbi HY†. (†Corresponding authors).
Recommended by T. Hall and A. Durr in F1000Prime.
Commented on Epilepsy Curr. 2019 Mar-Apr;19(2):122-123.
Cell, Feb 22; 172:924-936.
August 27, 2015
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
Gennarino VA*, Alcott CA*, Chen CA, Chaudhury A, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DDG, Roney EK, Smith JL, Cheung SW, Li W, Nailson JR, Schaaf CP, Zoghbi HY. (*Contributed equally).
eLife Aug 27;4. doi: 10.7554/eLife.10782.
March 12, 2015
Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels.
Gennarino VA, Singh RK, White JJ, De Maio A, Han K, Kim JY, Jafar-Nejad P, di Ronza A, Kang H, Sayegh LS, Cooper TA, Orr HT, Sillitoe RV and Zoghbi HY. This paper was highlighted in an ALZ forum press release.
Cell, Mar 12;160(6):1087-98.
March 01, 2013
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p.
Han K*, Gennarino VA*, Lee Y, Pang K, Hashimoto-Torii K, Choufani S, Raju CS, Oldham MC, Weksberg R, Rakic P, Liu Z, and Zoghbi HY. (*Contributed equally). This paper was selected for the journal cover.
Genes & Development, Mar 1;27(5):485-90.
June 22, 2012
Identification of microRNA-regulated gene networks by expression analysis of target genes.
Gennarino VA, D’angelo G, Dharmalingam G, Fernandez S, Russolillo G, Sanges R, Mutarelli M, Belcastro V, Ballabio A, Verde P, Sardiello M, Banfi S. Website: http://cometa.tigem.it/
Genome Research, Jun;22(6):1163-72. Epub 2012 Feb 24.
July 01, 2011
HOCTAR database: a unique resource for microRNA target prediction.
Gennarino VA†, Sardiello M, Mutarelli M, Dharmalingam G, Maselli V, Lago G and Banfi S. (†Corresponding author). Website: http://hoctar.tigem.it/index.php
Gene, Jul 1;480(1-2):51-8. Epub 2011 Mar 22.
October 30, 2009
UTRdb and UTRsite (release 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs.
Grillo G, Turi A, Licciulli F, Mignone F, Liuni S, Banfi S, Gennarino VA, Horner DS, Pavesi G, Picardi E, Pesole G.
Nucleic Acids Research, 2010 Jan;38 (Database issue):D75-80. Epub 2009 Oct 30.
July 24, 2009
A gene network regulating lysosomal biogenesis and function.
Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A. F1000Prime recommended.
Science, Jul 24;325(5939):473-7. Epub 2009 Jun 25.
March 19, 2009
MicroRNA target prediction by expression analysis of host genes.
Gennarino VA, Sardiello M, Avellino R, Meola N, Maselli V, Anand S, Cutillo L, Ballabio A and Banfi S. Website: http://hoctar1.0.tigem.it/
Genome Research, Mar;19(3):481-90. Epub 2008 Dec.
