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The University of Tennessee Health Science Center


2021


Molecular Changes in Prader-Willi Syndrome Neurons Reveals Clues About Increased Autism Susceptibility.
Victor AK, Donaldson M, Johnson D, Miller W, Reiter LT. Front Mol Neurosci. 2021 Oct 29:14:747855. doi: 10.3389/fnmol.2021.747855. Front Mol Neurosci. 2021. PMID: 34776864 Free PMC article.

2020


An Unbiased Drug Screen for Seizure Suppressors in Duplication 15q Syndrome Reveals 5-HT1A and Dopamine Pathway Activation as Potential Therapies.
Roy B, Han J, Hope KA, Peters TL, Palmer G, Reiter LT. Biol Psychiatry. 2020 Apr 13:S0006-3223(20)31491-8. doi: 10.1016/j.biopsych.2020.03.021. Online ahead of print. Biol Psychiatry. 2020. PMID: 32507391

Transcriptomic and proteomic profiling of glial versus neuronal Dube3a overexpression reveals common molecular changes in gliopathic epilepsies.
Hope KA, Johnson D, Miller PW, Lopez-Ferrer D, Kakhniashvili D, Reiter LT. Neurobiol Dis. 2020 Jul;141:104879. doi: 10.1016/j.nbd.2020.104879. Epub 2020 Apr 25. Neurobiol Dis. 2020. PMID: 32344153 Free PMC article.

Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.
Chen H, Victor AK, Klein J, Fon Tacer K, Jc Tai D, de Esch C, Nuttle A, Temirov J, Burnett LC, Rosenbaum M, Zhang Y, Ding L, Moresco JJ, Diedrich JK, Yates 3rd JR, Tillman HS, Leibel RL, Talkowsky ME, Billadeau DD, Reiter LT., Potts PR. JCI Insight. 2020 Sep;5(17):e138576. doi: 10.1172/jci.insight.138576. Epub 2020 Sep 3. JCI Insight 2020. PMID: 32879135 Free PMC article.

Properties of beta oscillations in Dup15q syndrome.
Saravanapandian V, Frohlich J, Hipp JF, Hyde C, Scheffler AW, Golshani P, Cook EH, Reiter LT., Senturk D, Jeste SS. J Neurodev Disord. 2020 Aug;12(1):22. doi: 10.1186/s11689-020-09326-1. Epub 2020 Aug 3. J Neurodev Disord 2020. PMID: 32791992 Free PMC article.

Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.
DiStefano C, Wilson RB, Hyde C, Cook EH, Thibert RL, Reiter LT, Vogel-Farley V, Hipp J, Jeste S. Am J Med Genet A. 2020 Jan;182(1):71-84. doi: 10.1002/ajmg.a.61385. Epub 2019 Oct 26. Am J Med Genet A. 2020. PMID: 31654560 Free PMC article.

2019


Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome.
Frohlich J, Reiter LT, Saravanapandian V, DiStefano C, Huberty S, Hyde C, Chamberlain S, Bearden CE, Golshani P, Irimia A, Olsen RW, Hipp JF, Jeste SS. Mol Autism. 2019 Nov 6;10:37. doi: 10.1186/s13229-019-0288-y. eCollection 2019. Mol Autism. 2019. PMID: 31709034 Free PMC article.

Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.
DiStefano C, Wilson RB, Hyde C, Cook EH, Thibert RL, Reiter LT, Vogel-Farley V, Hipp J, Jeste S. Am J Med Genet A. 2020 Jan;182(1):71-84. doi: 10.1002/ajmg.a.61385. Epub 2019 Oct 26. Am J Med Genet A. 2020. PMID: 31654560 Free PMC article.

The Drosophila Gene Sulfateless Modulates Autism-Like Behaviors.
Hope KA, Flatten D, Cavitch P, May B, Sutcliffe JS, O'Donnell J, Reiter LT. Front Genet. 2019 Jun 19;10:574. doi: 10.3389/fgene.2019.00574. eCollection 2019. Front Genet. 2019. PMID: 31316544 Free PMC article.

Mechanisms underlying the EEG biomarker in Dup15q syndrome.
Frohlich J, Reiter LT, Saravanapandian V, DiStefano C, Huberty S, Hyde C, Chamberlain S, Bearden CE, Golshani P, Irimia A, Olsen RW, Hipp JF, Jeste SS. Mol Autism. 2019 Jul 3;10:29. doi: 10.1186/s13229-019-0280-6. eCollection 2019. Mol Autism. 2019. PMID: 31312421 Free PMC article. Clinical Trial.

A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster.
Hope KA, McGinn A, Reiter LT. Sci Rep. 2019 Feb 20;9(1):2382. doi: 10.1038/s41598-019-38663-y. Sci Rep. 2019. PMID: 30787400 Free PMC article.

2018


Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.
Urraca N, Hope K, Victor AK, Belgard TG, Memon R, Goorha S, Valdez C, Tran QT, Sanchez S, Ramirez J, Donaldson M, Bridges D, Reiter LT. Mol Autism. 2018 Jan 27;9:6. doi: 10.1186/s13229-018-0191-y. eCollection 2018. Mol Autism. 2018. PMID: 29423132 Free PMC article.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group, LeDoux MS. Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435. Hum Mol Genet. 2018. PMID: 29300972 Free PMC article.

Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses.
Ajayi OJ, Smith EJ, Viangteeravat T, Huang EY, Nagisetty NSVR, Urraca N, Lusk L, Finucane B, Arkilo D, Young J, Jeste S, Thibert R; Dup15q Alliance, Reiter LT. JMIR Res Protoc. 2017 Oct 18;6(10):e194. doi: 10.2196/resprot.7989. JMIR Res Protoc. 2017. PMID: 29046268 Free PMC article.

Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.
Copping NA, Christian SGB, Ritter DJ, Islam MS, Buscher N, Zolkowska D, Pride MC, Berg EL, LaSalle JM, Ellegood J, Lerch JP, Reiter LT, Silverman JL, Dindot SV. Hum Mol Genet. 2017 Oct 15;26(20):3995-4010. doi: 10.1093/hmg/ddx289. Hum Mol Genet. 2017. PMID: 29016856 Free PMC article.

Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na+/K+ pump ATPα.
Hope KA, LeDoux MS, Reiter LT. Neurobiol Dis. 2017 Dec;108:238-248. doi: 10.1016/j.nbd.2017.09.003. Epub 2017 Sep 6. Neurobiol Dis. 2017. PMID: 28888970 Free PMC article.

Dental pulp stem cells for the study of neurogenetic disorders.
Victor AK, Reiter LT. Hum Mol Genet. 2017 Oct 1;26(R2):R166-R171. doi: 10.1093/hmg/ddx208. Hum Mol Genet. 2017. PMID: 28582499 Free PMC article. Review.

Etiology of Human Genetic Disease on the Fly.
Chow CY, Reiter LT. Trends Genet. 2017 Jun;33(6):391-398. doi: 10.1016/j.tig.2017.03.007. Epub 2017 Apr 15. Trends Genet. 2017. PMID: 28420493 Review.

Culturing and Neuronal Differentiation of Human Dental Pulp Stem Cells.
Goorha S, Reiter LT. Curr Protoc Hum Genet. 2017 Jan 11;92:21.6.1-21.6.10. doi: 10.1002/cphg.28. Curr Protoc Hum Genet. 2017. PMID: 28075485/span> Free PMC article.

Dental Pulp Stem Cells Model Early Life and Imprinted DNA Methylation Patterns.
Dunaway K, Goorha S, Matelski L, Urraca N, Lein PJ, Korf I, Reiter LT, LaSalle JM. Stem Cells. 2017 Apr;35(4):981-988. doi: 10.1002/stem.2563. Epub 2017 Jan 19. Stem Cells. 2017. PMID: 28032673 Free PMC article.


A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome.
Frohlich J, Senturk D, Saravanapandian V, Golshani P, Reiter LT, Sankar R, Thibert RL, DiStefano C, Huberty S, Cook EH, Jeste SS. PLoS One. 2016 Dec 15;11(12):e0167179. doi: 10.1371/journal.pone.0167179. eCollection 2016. PLoS One. 2016. PMID: 27977700 Free PMC article.

A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.
Urraca N, Potter B, Hundley R, Pivnick EK, McVicar K, Thibert RL, Ledbetter C, Chamberlain R, Miravalle L, Sirois CL, Chamberlain S, Reiter LT. Front Genet. 2016 Nov 25;7:205. doi: 10.3389/fgene.2016.00205. eCollection 2016. Front Genet. 2016. PMID: 27933089 Free PMC article.

The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons.
Hope KA, LeDoux MS, Reiter LT. Epigenetics. 2016 Sep;11(9):637-642. doi: 10.1080/15592294.2016.1214783. Epub 2016 Aug 11. Epigenetics. 2016. PMID: 27599063 Free PMC article.

15q Duplication Syndrome and Related Disorders.
Finucane BM, Lusk L, Arkilo D, Chamberlain S, Devinsky O, Dindot S, Jeste SS, LaSalle JM, Reiter LT, Schanen NC, Spence SJ, Thibert RL, Calvert G, Luchsinger K, Cook EH. 2016 Jun 16. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 27308687 Free Books & Documents. Review.

Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome.
DiStefano C, Gulsrud A, Huberty S, Kasari C, Cook E, Reiter LT, Thibert R, Jeste SS. J Neurodev Disord. 2016 May 6;8:19. doi: 10.1186/s11689-016-9152-y. eCollection 2016. J Neurodev Disord. 2016. PMID: 27158270 Free PMC article.

Effects of hTERT immortalization on osteogenic and adipogenic differentiation of dental pulp stem cells.
Ikbale el-A, Goorha S, Reiter LT, Miranda-Carboni GA. Data Brief. 2016 Jan 14;6:696-9. doi: 10.1016/j.dib.2016.01.009. eCollection 2016 Mar. Data Brief. 2016. PMID: 26958627 Free PMC article.

Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders.
Urraca N, Memon R, El-Iyachi I, Goorha S, Valdez C, Tran QT, Scroggs R, Miranda-Carboni GA, Donaldson M, Bridges D, Reiter LT. Stem Cell Res. 2015 Nov;15(3):722-730. doi: 10.1016/j.scr.2015.11.004. Epub 2015 Dec 1. Stem Cell Res. 2015. PMID: 26599327 Free PMC article.

Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.
LaSalle JM, Reiter LT, Chamberlain SJ. Epigenomics. 2015 Oct;7(7):1213-28. doi: 10.2217/epi.15.70. Epub 2015 Nov 20. Epigenomics. 2015. PMID: 26585570 Free PMC article. Review.

Assessment of the Tumorigenic Potential of Spontaneously Immortalized and hTERT-Immortalized Cultured Dental Pulp Stem Cells.
Wilson R, Urraca N, Skobowiat C, Hope KA, Miravalle L, Chamberlin R, Donaldson M, Seagroves TN, Reiter LT. Stem Cells Transl Med. 2015 Aug;4(8):905-12. doi: 10.5966/sctm.2014-0196. Epub 2015 Jun 1. Stem Cells Transl Med. 2015. PMID: 26032749 Free PMC article.

Variation in Dube3a expression affects neurotransmission at the Drosophila neuromuscular junction.
Valdez C, Scroggs R, Chassen R, Reiter LT. Biol Open. 2015 May 6;4(7):776-82. doi: 10.1242/bio.20148045. Biol Open. 2015. PMID: 25948754 Free PMC article.

The role of TORC1 in muscle development in Drosophila.
Hatfield I, Harvey I, Yates ER, Redd JR, Reiter LT, Bridges D. Sci Rep. 2015 Apr 13;5:9676. doi: 10.1038/srep09676. Sci Rep. 2015. PMID: 25866192 Free PMC article.

Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1.
Germain ND, Chen PF, Plocik AM, Glatt-Deeley H, Brown J, Fink JJ, Bolduc KA, Robinson TM, Levine ES, Reiter LT, Graveley BR, Lalande M, Chamberlain SJ. Mol Autism. 2014 Aug 20;5:44. doi: 10.1186/2040-2392-5-44. eCollection 2014. Mol Autism. 2014. PMID: 25694803 Free PMC article.

A survey of seizures and current treatments in 15q duplication syndrome.
Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C, Devinsky O, Cook EH, LaSalle J, Reiter LT, Thibert RL. Epilepsia. 2014 Mar;55(3):396-402. doi: 10.1111/epi.12530. Epub 2014 Feb 6. Epilepsia. 2014. PMID: 24502430 Free article.

Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis.
Jensen L, Farook MF, Reiter LT. PLoS One. 2013 Apr 23;8(4):e61952. doi: 10.1371/journal.pone.0061952. Print 2013. PLoS One. 2013. PMID: 23626758 Free PMC article.

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.
Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT. Autism Res. 2013 Aug;6(4):268-79. doi: 10.1002/aur.1284. Epub 2013 Mar 14. Autism Res. 2013. PMID: 23495136 Free PMC article.

Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models.
Farook MF, DeCuypere M, Hyland K, Takumi T, LeDoux MS, Reiter LT. PLoS One. 2012;7(8):e43030. doi: 10.1371/journal.pone.0043030. Epub 2012 Aug 16. PLoS One. 2012. PMID: 22916201 Free PMC article.

Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples.
Scoles HA, Urraca N, Chadwick SW, Reiter LT, Lasalle JM. Mol Autism. 2011 Dec 12;2(1):19. doi: 10.1186/2040-2392-2-19. Mol Autism. 2011. PMID: 22152151 Free PMC article.

Comprehensive motor testing in Fmr1-KO mice exposes temporal defects in oromotor coordination.
Roy S, Zhao Y, Allensworth M, Farook MF, LeDoux MS, Reiter LT, Heck DH. Behav Neurosci. 2011 Dec;125(6):962-9. doi: 10.1037/a0025920. Epub 2011 Oct 17. Behav Neurosci. 2011. PMID: 22004265 Free PMC article.

Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila.
Wangler MF, Reiter LT, Zimm G, Trimble-Morgan J, Wu J, Bier E. Protein Cell. 2011 Jul;2(7):554-63. doi: 10.1007/s13238-011-1073-7. Epub 2011 Aug 6. Protein Cell. 2011. PMID: 21822800 Free PMC article.

Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome.
Allensworth M, Saha A, Reiter LT, Heck DH. BMC Genet. 2011 Jan 14;12:7. doi: 10.1186/1471-2156-12-7. BMC Genet. 2011. PMID: 21235769 Free PMC article.

Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism.
Ferdousy F, Bodeen W, Summers K, Doherty O, Wright O, Elsisi N, Hilliard G, O'Donnell JM, Reiter LT. Neurobiol Dis. 2011 Mar;41(3):669-77. doi: 10.1016/j.nbd.2010.12.001. Epub 2010 Dec 13. Neurobiol Dis. 2011. PMID: 21147225 Free PMC article.

A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.
Urraca N, Davis L, Cook EH Jr, Schanen NC, Reiter LT. Genet Test Mol Biomarkers. 2010 Aug;14(4):571-6. doi: 10.1089/gtmb.2010.0030. Genet Test Mol Biomarkers. 2010. PMID: 20642357 Free PMC article.

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