Dosage sensitivity to Pumilio1 variants in the mouse brain reflects distinct molecular mechanisms

Botta S, de Prisco N, Chemiakine A, Brandt V, Cabaj M, Patel P, Doron-Mandel E, Treadway CJ, Jovanovic M, Brown NG, Soni RK, Gennarino VA.

EMBO J, April 18, 2023

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Gehin C*, Lone MA*, Lee W*, Capolupo L*, Ho S, Adeyemi MA, Gerkes EH, Stegmann APA, López-Martín E, Bermejo-Sánchez E, Maartínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt MV, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernámdez-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Mau-Them FT, Maddocks ABR, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cerchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jaksic AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, and Gennarino VA.

Journal of Clinical Investigation, March 28, 2023.

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

de Prisco N, Ford C, Elrod ND, Lee W, Tang LC, Huang KL, Lin A, Ji P, Jonnakuti VS, Boyle L, Cabaj M, Botta S, Õunap K, Reinson K, Wojcik MH, Rosenfeld JA, Bi W, Tveten K, Prescott T, Gerstner T, Schroeder A, Fong CT, Georg-Abraham JK, Buchanan CA, Hanson-Khan A, Bernstein JA, Nella AA, Chung WK, Brandt V, Jovanovic M, Targoff KL, Yalamanchili HK, Wagner EJ, Gennarino VA.

Science Advances, February 17, 2023.

How to expand the method details in your Cell Press paper with
step-by-step STAR Protocols

Lee W, de Prisco N, Gennarino VA, and Buttery S.

STAR Protocols Cell Press, September 16, 2022.

Dual antibody strategy for high-resolution imagining of murine Purkinje cells and their dendrites across multiple layers.

Botta S, Chemiakine A, and Gennarino VA.

STAR Protocols Cell Press, June 9, 2022.

Protocol to asses the effect of disease-driving variants on mouse morphology and primary hippocampal neurons.

de Prisco N, Chemiakine A, Lee W, Botta S, and Gennarino VA.

STAR Protocols Cell Press, March 17, 2022.

Protocol for recording epileptiform discharges of EEG and
behavioral seizures in freely-moving mice

Wang Q, de Prisco N, Tang J, and Gennarino VA.

STAR Protocols Cell Press, March 17, 2022.

Determining the effects of loss of function mutations
in human cell lines.

de Prisco N, Botta S, Lee W, Rezazedeh S, Chemiakine A, and Gennarino VA.

STAR Protocols Cell Press, March 17, 2022.

Upregulation of BMI1-suppressor miRNAs (miR-200c, miR-203) during terminal differentiation of colon epithelial cells.

Hisamori S, Mukohyama J, Sanjay K, Hayashi T, Rothenberg ME, Maeda M, Isobe T, Salazar LEV, Qian X, Johnston DM, Qian D, Lao K, Asai N, Kakeji Y, Gennarino VA, Sahoo D, Dalerba P, and Shimono Y.

Journal of Gastroenterology, March 4, 2022.

Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene

Lee W, de Prisco N, Gennarino VA.

STAR Protocols Cell Press, February 3, 2022.

Modulation of pancreatic neuroendocrine neoplastic cell fate by autophagy mediated death

Matrood S, de Prisco N, Wissniowski TT, Wiese D, Jabari S, Griesmann H, Wanzel M, Stiewe T, Neureiter D, Klieser E, Mintziras I, Bucholz M, Bartsch DK, Gennarino VA and Di Fazio P.

Neuroendocrinology, Oct 27 2020, ahead of print.

MiR760 regulates ATXN1 levels via interaction with its 5’ untranslated region

Nitschke L, Tewari A, Coffin SL, Xhako E, Pang K, Gennarino VA, Johnson JL, Blanco FA, Liu Z, Zoghbi HY.

Genes & Development, , Sep 1 2020;34:1147-1160.

Pumilio proteins utilize distinct regulatory mechanisms to achieve complementary functions required for pluripotency and embryogenesis

Uyhazi KE, Yang Y, Liu N, Qi H, Huang XA, Mark W, Weatherbee SD, de Prisco N,

Gennarino VA, Song X, Lin H.

PNAS, Apr 7 2020;14:7851-7862.

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 2019;178:1159-1175

RBM17 interacts with U2SURP and CHERP to regulate expression and splicing of RNA-processing proteins

De Maio A*, Yalamanchili HK*, Adamski CJ, Gennarino VA, Liu Z, Qui J, Jung SY, Richman R, Orr H, Zoghbi HY. (*Contributed equally).

Cell Reports, Oct 16 2018; 25(3):726-736.e7.

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)

Cell, Feb 22 2018; 172:924-936.

Recommended by T. Hall and A. Durr in F1000Prime.

Commented on Epilepsy Curr. 2019 Mar-Apr;19(2):122-123.

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 2015;4.

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.

Cell, Mar 12 2015;160(6):1087-98.

This paper was highlighted in an ALZ forum press release.

Fragile X-like behaviors and abnormal cortical dendritic spines in Cytoplasmic FMR1-interacting protein 2-mutant mice

Han K, Chen H, Gennarino VA, Richman R, Lu H, and Zoghbi HY.

Human Molecular Genetics, Apr 1 2014;24(7):1813-23.

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.

Genes & Development, Mar 1 2013;27(5):485-90. (*Contributed equally).

This paper was selected for the journal cover.

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.

Genome Research, Jun 22 2012;22(6):1163-72. Epub 2012 Feb 24.

Website: http://cometa.tigem.it/

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).

Gene, Jul 1 2011;480(1-2):51-8. Epub 2011 Mar 22.

Website: http://hoctar.tigem.it/index.php

miRNeye: a microRNA expression atlas of the mouse eye

Karali M, Peluso I, Gennarino VA, Bilio M, Verde R, Lago G, Dollé P, Banfi S.

BMC Genomics, 2010 Dec 11:715.

Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements

Licastro D*, Gennarino VA*, Petrera F, Sanges R, Banfi S§ and Stupka E§. (*Contributed equally).

BMC Genomics, 2010 Mar 4;11:151.

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, 2009 Jan;38 (Database issue):D75-80. Epub 2009 Oct 30.

Website: http://utrdb.ba.itb.cnr.it/

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.

Science, Jul 24 2009;325(5939):473-7. Epub 2009 Jun 25.

Recommended by S. Di Donato in F1000Prime.

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.

Genome Research, Mar 2019;19(3):481-90. Epub 2008 Dec 16.