Selected Publications

Adaptive downregulation of mitochondrial function in Down’s syndrome.
Helguera P, Seiglie J, Rodriguez J, Hanna M, and Busciglio J.
Submitted

Low cost electrode assembly for EEG recordings in mice.
Vogler E, Flynn D, Busciglio F, Bohannan RC, Tran A, Mahavongtrakul M, Busciglio J.
Front Neurosci. 2017 Nov 14;11:629. doi: 10.3389/fnins.2017.00629. eCollection 2017.
PMID: 29184480

Dendritic spine pathology and thrombospondin-1 deficits in Down syndrome.
Torres MD, Garcia O, Tang C, Busciglio J.
Free Radic Biol Med. 2017 Sep 28. pii: S0891-5849(17)30778-5.
PMID: 28965914

Metabolic and Growth Rate Alterations in Lymphoblastic Cell Lines Discriminate Between Down Syndrome and Alzheimer’s Disease.
Coskun P, Helguera P, Nemati Z, Bohannan RC, Thomas J, Samuel SE, Argueta J, Doran E, Wallace DC, Lott IT, Busciglio J.
J Alzheimers Dis. 2017;55(2):737-748.
PMID: 27802222

Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society.
Delabar JM, Allinquant B, Bianchi D, Blumenthal T, Dekker A, Edgin J, O’Bryan J, Dierssen M, Potier MC, Wiseman F, Guedj F, Créau N, Reeves R, Gardiner K, Busciglio J.
Mol Syndromol. 2016 Oct;7(5):251-261. Epub 2016 Sep 16.
PMID: 27867340

A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes.
Peiris H, Duffield MD, Fadista J, Jessup CF, Kashmir V, Genders AJ, McGee SL, Martin AM, Saiedi M, Morton N, Carter R, Cousin MA, Kokotos AC, Oskolkov N, Volkov P, Hough TA, Fisher EM, Tybulewicz VL, Busciglio J, Coskun PE, Becker A, Belichenko PV, Mobley WC, Ryan MT, Chan JY, Laybutt DR, Coates PT, Yang S, Ling C, Groop L, Pritchard MA, Keating DJ.
PLoS Genet. 2016 May 19;12(5):e1006033. doi: 10.1371/journal.pgen.1006033. eCollection 2016 May.
PMID: 27195491

Nerve growth factor metabolic dysfunction in Down’s syndrome brains.
Iulita MF, Do Carmo S, Ower AK, Fortress AM, Flores Aguilar L, Hanna M, Wisniewski T, Granholm AC, Buhusi M, Busciglio J, Cuello AC.
Brain. 2014 Mar;137(Pt 3):860-72. doi: 10.1093/brain/awt372. Epub 2014 Feb 11.
PMID: 24519975

Disruption of zinc neuromodulation by Aß oligomers: therapeutic implications.
Vogler EC, Busciglio J.
Curr Pharm Des. 2014;20(15):2520-4. Review.
PMID: 23859544

Dosage of amyloid precursor protein affects axonal contact guidance in Down syndrome.
Sosa LJ, Postma NL, Estrada-Bernal A, Hanna M, Guo R, Busciglio J, Pfenninger KH.
FASEB J. 2014 Jan;28(1):195-205. doi: 10.1096/fj.13-232686. Epub 2013 Sep 13.
PMID: 24036883

Bisphenol A delays the perinatal chloride shift in cortical neurons by epigenetic effects on the Kcc2 promoter.
Yeo M, Berglund K, Hanna M, Guo JU, Kittur J, Torres MD, Abramowitz J, Busciglio J, Gao Y, Birnbaumer L, Liedtke WB.
Proc Natl Acad Sci U S A. 2013 Mar 12;110(11):4315-20. doi: 10.1073/pnas.1300959110. Epub 2013 Feb 25.
PMID: 23440186

Adaptive downregulation of mitochondrial function in down syndrome.
Helguera P, Seiglie J, Rodriguez J, Hanna M, Helguera G, Busciglio J.
Cell Metab. 2013 Jan 8;17(1):132-40. doi: 10.1016/j.cmet.2012.12.005.
PMID: 23312288

Down syndrome: genes, model systems, and progress towards pharmacotherapies and clinical trials for cognitive deficits.
Busciglio J, Capone G, O’Bryan J, Gardiner KJ.
Cytogenet Genome Res. 2013;141(4):260-71. doi: 10.1159/000354306. Epub 2013 Aug 30. Erratum in: Cytogenet Genome Res. 2014;142(2):94. O’Byran, J P [corrected to O’Bryan, J].
PMID: 24008277

Oxidative Stress and Mitochondrial Dysfunction in Down’s Syndrome: Relevance to Aging and Dementia.
Coskun PE, Busciglio J.
Curr Gerontol Geriatr Res. 2012;2012:383170. doi: 10.1155/2012/383170. Epub 2012 Apr 29.
PMID: 22611387

Mitochondrial dysfunction and Down’s syndrome: is there a role for coenzyme Q(10) ?
Tiano L, Busciglio J.
Biofactors. 2011 Sep-Oct;37(5):386-92. doi: 10.1002/biof.184. Review.
PMID: 22009852

A role for thrombospondin-1 deficits in astrocyte-mediated spine and synaptic pathology in Down’s syndrome.
Garcia O, Torres M, Helguera P, Coskun P, Busciglio J.
PLoS One. 2010 Dec 2;5(12):e14200. doi: 10.1371/journal.pone.0014200.
PMID: 21152035

Cryopreservation of cortical tissue blocks for the generation of highly enriched neuronal cultures.
Rahman AS, Parvinjah S, Hanna MA, Helguera PR, Busciglio J.
J Vis Exp. 2010 Nov 11;(45). pii: 2384. doi: 10.3791/2384.
PMID: 21113113

Disruption of fast axonal transport is a pathogenic mechanism for intraneuronal amyloid beta.
Pigino G, Morfini G, Atagi Y, Deshpande A, Yu C, Jungbauer L, LaDu M, Busciglio J, Brady S.
Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5907-12. doi: 10.1073/pnas.0901229106. Epub 2009 Mar 24.
PMID: 19321417

A role for synaptic zinc in activity-dependent Abeta oligomer formation and accumulation at excitatory synapses.
Deshpande A, Kawai H, Metherate R, Glabe CG, Busciglio J.
J Neurosci. 2009 Apr 1;29(13):4004-15. doi: 10.1523/JNEUROSCI.5980-08.2009.
PMID: 19339596

Tau isoform expression and regulation in human cortical neurons.
Deshpande A, Win KM, Busciglio J.
FASEB J. 2008 Jul;22(7):2357-67. doi: 10.1096/fj.07-096909. Epub 2008 Feb 8.
PMID: 18263702

Brain oxidative stress in a triple-transgenic mouse model of Alzheimer disease.
Resende R, Moreira PI, Proença T, Deshpande A, Busciglio J, Pereira C, Oliveira CR.
Free Radic Biol Med. 2008 Jun 15;44(12):2051-7. doi: 10.1016/j.freeradbiomed.2008.03.012. Epub 2008 Mar 28.
PMID: 18423383

NAP and ADNF-9 protect normal and Down’s syndrome cortical neurons from oxidative damage and apoptosis.
Busciglio J, Pelsman A, Helguera P, Ashur-Fabian O, Pinhasov A, Brenneman DE, Gozes I.
Curr Pharm Des. 2007;13(11):1091-8.
PMID: 17430172

Beta-amyloid, oxidative stress and down syndrome.
Lott IT, Head E, Doran E, Busciglio J.
Curr Alzheimer Res. 2006 Dec;3(5):521-8. Review.
PMID: 17168651

Phosphorylation of actin-depolymerizing factor/cofilin by LIM-kinase mediates amyloid beta-induced degeneration: a potential mechanism of neuronal dystrophy in Alzheimer’s disease.
Heredia L, Helguera P, de Olmos S, Kedikian G, Solá Vigo F, LaFerla F, Staufenbiel M, de Olmos J, Busciglio J, Cáceres A, Lorenzo A.
J Neurosci. 2006 Jun 14;26(24):6533-42.
PMID: 16775141