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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT.

JIMD Rep. 2019 Jun 17;48(1):26-35. doi: 10.1002/jmd2.12054. eCollection 2019 Jul.


Scorpiurus aramoana (Diptera: Dolichopodidae), a new species from New Zealand.

Bickel DJ, Kerr DS.

Zootaxa. 2018 May 22;4422(1):78-84. doi: 10.11646/zootaxa.4422.1.4.


Chronic Lithium Treatment Increases Telomere Length in Parietal Cortex and Hippocampus of Triple-Transgenic Alzheimer's Disease Mice.

Cardillo GM, De-Paula VJR, Ikenaga EH, Costa LR, Catanozi S, Schaeffer EL, Gattaz WF, Kerr DS, Forlenza OV.

J Alzheimers Dis. 2018;63(1):93-101. doi: 10.3233/JAD-170838.


Association study of functional polymorphisms of dopaminergic pathway in epilepsy-related factors of temporal lobe epilepsy in Brazilian population.

Alcantara JA, Vincentis S, Kerr DS, Dos Santos B, Alessi R, van der Linden H Jr, Chaim T, Serpa MH, Busatto GF, Gattaz WF, Demarque R, Valente KD.

Eur J Neurol. 2018 Jun;25(6):895-901. doi: 10.1111/ene.13631. Epub 2018 Apr 10.


Improved cardiac outcomes with combined atenolol and diazepam intervention in seizure.

Read MI, Millen RN, McCann DM, Harrison JC, Kerr DS, Sammut IA.

Epilepsia. 2018 Apr;59(4):854-865. doi: 10.1111/epi.14039. Epub 2018 Mar 7.


Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.

Shin HK, Grahame G, McCandless SE, Kerr DS, Bedoyan JK.

Mol Genet Metab. 2017 Nov;122(3):61-66. doi: 10.1016/j.ymgme.2017.09.001. Epub 2017 Sep 8.


Donepezil effects on cholesterol and oxysterol plasma levels of Alzheimer's disease patients.

Costa AC, Joaquim HPG, Nunes VS, Kerr DS, Ferreira GS, Forlenza OV, Gattaz WF, Talib LL.

Eur Arch Psychiatry Clin Neurosci. 2018 Aug;268(5):501-507. doi: 10.1007/s00406-017-0838-2. Epub 2017 Aug 31.


Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA.

Mol Genet Metab. 2017 Apr;120(4):342-349. doi: 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2. Review.


Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.

Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT.

Mol Genet Metab. 2017 Mar;120(3):213-222. doi: 10.1016/j.ymgme.2016.11.005. Epub 2016 Nov 12.


Apolipoprotein E genotype is not associated with cognitive impairment in older adults with bipolar disorder.

Kerr DS, Stella F, Radanovic M, Aprahamian I, Bertollucci PH, Forlenza OV.

Bipolar Disord. 2016 Feb;18(1):71-7. doi: 10.1111/bdi.12367. Epub 2016 Feb 15.


Long-Term Lithium Treatment Increases cPLA₂ and iPLA₂ Activity in Cultured Cortical and Hippocampal Neurons.

De-Paula Vde J, Kerr DS, de Carvalho MP, Schaeffer EL, Talib LL, Gattaz WF, Forlenza OV.

Molecules. 2015 Nov 4;20(11):19878-85. doi: 10.3390/molecules201119663.


Correction: The Absence of CYP3A5*3 Is a Protective Factor to Anticonvulsants Hypersensitivity Reactions: A Case-Control Study in Brazilian Subjects.

Tanno LK, Kerr DS, dos Santos B, Talib LL, Yamaguti C, Rodrigues H, Gattaz WF, Kalil J.

PLoS One. 2015 Sep 29;10(9):e0139861. doi: 10.1371/journal.pone.0139861. eCollection 2015. No abstract available.


Progressive development of cardiomyopathy following altered autonomic activity in status epilepticus.

Read MI, McCann DM, Millen RN, Harrison JC, Kerr DS, Sammut IA.

Am J Physiol Heart Circ Physiol. 2015 Nov;309(9):H1554-64. doi: 10.1152/ajpheart.00256.2015. Epub 2015 Sep 4.


Aging Effects on Whole-Brain Functional Connectivity in Adults Free of Cognitive and Psychiatric Disorders.

Ferreira LK, Regina AC, Kovacevic N, Martin Mda G, Santos PP, Carneiro Cde G, Kerr DS, Amaro E Jr, McIntosh AR, Busatto GF.

Cereb Cortex. 2016 Sep;26(9):3851-65. doi: 10.1093/cercor/bhv190. Epub 2015 Aug 26.


The Absence of CYP3A5*3 Is a Protective Factor to Anticonvulsants Hypersensitivity Reactions: A Case-Control Study in Brazilian Subjects.

Tanno LK, Kerr DS, dos Santos B, Talib LL, Yamaguti C, Rodrigues H, Gattaz WF, Kalil J.

PLoS One. 2015 Aug 20;10(8):e0136141. doi: 10.1371/journal.pone.0136141. eCollection 2015. Erratum in: PLoS One. 2015;10(9):e0139861.


Pinnatoxins E, F and G target multiple nicotinic receptor subtypes.

Hellyer SD, Indurthi D, Balle T, Runder-Varga V, Selwood AI, Tyndall JD, Chebib M, Rhodes L, Kerr DS.

J Neurochem. 2015 Nov;135(3):479-91. doi: 10.1111/jnc.13245. Epub 2015 Aug 3.


Leukocyte telomere length in patients with schizophrenia: A meta-analysis.

Polho GB, De-Paula VJ, Cardillo G, dos Santos B, Kerr DS.

Schizophr Res. 2015 Jul;165(2-3):195-200. doi: 10.1016/j.schres.2015.04.025. Epub 2015 May 12.


Functional preservation of hippocampal CA1 by low-dose GYKI-52466 preconditioning in a rat model of hypoxic-ischemic brain injury.

Nayak PK, Kerr DS.

Brain Res. 2015 Jul 10;1613:100-9. doi: 10.1016/j.brainres.2015.04.004. Epub 2015 Apr 11.


Atenolol offers better protection than clonidine against cardiac injury in kainic acid-induced status epilepticus.

Read MI, Harrison JC, Kerr DS, Sammut IA.

Br J Pharmacol. 2015 Oct;172(19):4626-38. doi: 10.1111/bph.13132. Epub 2015 Aug 24.


Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S.

Mol Genet Metab Rep. 2014 Aug 28;1:362-367. eCollection 2014.


Physical exercise improves peripheral BDNF levels and cognitive functions in mild cognitive impairment elderly with different bdnf Val66Met genotypes.

Nascimento CM, Pereira JR, Pires de Andrade L, Garuffi M, Ayan C, Kerr DS, Talib LL, Cominetti MR, Stella F.

J Alzheimers Dis. 2015;43(1):81-91. doi: 10.3233/JAD-140576.


In vitro labelling of muscle type nicotinic receptors using a fluorophore-conjugated pinnatoxin F derivative.

Hellyer SD, Selwood AI, van Ginkel R, Munday R, Sheard P, Miles CO, Rhodes L, Kerr DS.

Toxicon. 2014 Sep;87:17-25. doi: 10.1016/j.toxicon.2014.05.013. Epub 2014 Jun 2.


Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA.

Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13.


Neuromuscular blocking activity of pinnatoxins E, F and G.

Hellyer SD, Selwood AI, Rhodes L, Kerr DS.

Toxicon. 2013 Dec 15;76:214-20. doi: 10.1016/j.toxicon.2013.10.009. Epub 2013 Oct 15.


Cardiac electrographic and morphological changes following status epilepticus: effect of clonidine.

Read MI, Andreianova AA, Harrison JC, Goulton CS, Sammut IA, Kerr DS.

Seizure. 2014 Jan;23(1):55-61. doi: 10.1016/j.seizure.2013.09.012. Epub 2013 Sep 25.


Antipsychotic drugs decrease iPLA2 gene expression in schizophrenia.

Kerr DS, Talib LL, Yamamoto VJ, Ferreira AS, Zanetti MV, Serpa MH, Busatto GF, Van de Bilt MT, Gattaz WF.

Schizophr Res. 2013 Jun;147(1):203-204. doi: 10.1016/j.schres.2013.03.026. Epub 2013 Apr 13. No abstract available.


Single-nucleotide polymorphisms of GSK3B, GAB2 and SORL1 in late-onset Alzheimer's disease: interactions with the APOE genotype.

Izzo G, Forlenza OV, Santos Bd, Bertolucci PH, Ojopi EB, Gattaz WF, Kerr DS.

Clinics (Sao Paulo). 2013;68(2):277-80.


Review of clinical trials for mitochondrial disorders: 1997-2012.

Kerr DS.

Neurotherapeutics. 2013 Apr;10(2):307-19. doi: 10.1007/s13311-013-0176-7. Review.


Low-dose GYKI-52466: prophylactic preconditioning confers long-term neuroprotection and functional recovery following hypoxic-ischaemic brain injury.

Nayak PK, Kerr DS.

Neuroscience. 2013 Mar 1;232:128-38. doi: 10.1016/j.neuroscience.2012.11.063. Epub 2012 Dec 16.


Design and implementation of the first randomized controlled trial of coenzyme CoQ₁₀ in children with primary mitochondrial diseases.

Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, Miles MV, Robinson BH, Tang PH.

Mitochondrion. 2012 Nov;12(6):623-9. doi: 10.1016/j.mito.2012.09.005. Epub 2012 Sep 25. Erratum in: Mitochondrion. 2013 Nov;13(6):953.


Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS.

Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.


High prevalence of overweight and obesity in females with phenylketonuria.

Burrage LC, McConnell J, Haesler R, O'Riordan MA, Sutton VR, Kerr DS, McCandless SE.

Mol Genet Metab. 2012 Sep;107(1-2):43-8. doi: 10.1016/j.ymgme.2012.07.006. Epub 2012 Jul 16.


COMT Met (158) modulates facial emotion recognition in bipolar I disorder mood episodes.

Soeiro-de-Souza MG, Bio DS, David DP, Rodrigues dos Santos D Jr, Kerr DS, Gattaz WF, Machado-Vieira R, Moreno RA.

J Affect Disord. 2012 Feb;136(3):370-6. doi: 10.1016/j.jad.2011.11.021. Epub 2012 Jan 4.


Marine algal pinnatoxins E and F cause neuromuscular block in an in vitro hemidiaphragm preparation.

Hellyer SD, Selwood AI, Rhodes L, Kerr DS.

Toxicon. 2011 Dec 1;58(8):693-9. doi: 10.1016/j.toxicon.2011.09.006. Epub 2011 Sep 19.


Ischemic cardiomyopathy following seizure induction by domoic Acid.

Vranyac-Tramoundanas A, Harrison JC, Sawant PM, Kerr DS, Sammut IA.

Am J Pathol. 2011 Jul;179(1):141-54. doi: 10.1016/j.ajpath.2011.03.017. Epub 2011 May 14.


Pharmacological Preconditioning with GYKI 52466: A Prophylactic Approach to Neuroprotection.

Goulton CS, Patten AR, Kerr JR, Kerr DS.

Front Neurosci. 2010 Aug 3;4. pii: 54. doi: 10.3389/fnins.2010.00054. eCollection 2010.


Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis.

Singer BH, Iyer RK, Kerr DS, Ahmad A.

Mol Genet Metab. 2010 Sep;101(1):87-9. doi: 10.1016/j.ymgme.2010.05.008. Epub 2010 Jun 11.


Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.

Coughlin CR 2nd, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J.

Mol Genet Metab. 2010 Jul;100(3):296-9. doi: 10.1016/j.ymgme.2010.04.004. Epub 2010 Apr 14.


In vivo seizure induction and affinity studies of domoic acid and isodomoic acids-D, -E and -F.

Sawant PM, Tyndall JD, Holland PT, Peake BM, Mountfort DO, Kerr DS.

Neuropharmacology. 2010 Sep;59(3):129-38. doi: 10.1016/j.neuropharm.2010.03.019. Epub 2010 Apr 21.


Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.

Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML.

Mol Genet Metab. 2010;100 Suppl 1:S97-105. doi: 10.1016/j.ymgme.2010.01.014. Epub 2010 Feb 10. Review.


Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade.

Kerr DS.

Mol Genet Metab. 2010 Mar;99(3):246-55. doi: 10.1016/j.ymgme.2009.11.005. Epub 2009 Nov 26. Review.


Ric-8A, a Galpha protein guanine nucleotide exchange factor potentiates taste receptor signaling.

Fenech C, Patrikainen L, Kerr DS, Grall S, Liu Z, Laugerette F, Malnic B, Montmayeur JP.

Front Cell Neurosci. 2009 Oct 8;3:11. doi: 10.3389/neuro.03.011.2009. eCollection 2009.


Spectral analysis of electrocorticographic activity during pharmacological preconditioning and seizure induction by intrahippocampal domoic acid.

Sawant PM, Mountfort DO, Kerr DS.

Hippocampus. 2010 Aug;20(8):994-1002. doi: 10.1002/hipo.20698.


Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML.

Am J Hum Genet. 2009 Jan;84(1):44-51. doi: 10.1016/j.ajhg.2008.12.009.


Using GEFs to deorphanize odorant receptors.

Malnic B, Kerr DS.

Chem Senses. 2009 Jan;34(1):25-6. doi: 10.1093/chemse/bjn058. Epub 2008 Sep 26. No abstract available.


In vivo seizure induction and pharmacological preconditioning by domoic acid and isodomoic acids A, B and C.

Sawant PM, Holland PT, Mountfort DO, Kerr DS.

Neuropharmacology. 2008 Dec;55(8):1412-8. doi: 10.1016/j.neuropharm.2008.09.001. Epub 2008 Sep 17.


Domoic acid impairment of cardiac energetics.

Vranyac-Tramoundanas A, Harrison JC, Clarkson AN, Kapoor M, Winburn IC, Kerr DS, Sammut IA.

Toxicol Sci. 2008 Oct;105(2):395-407. doi: 10.1093/toxsci/kfn132. Epub 2008 Jul 1.


Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network.

Mol Genet Metab. 2008 Aug;94(4):397-402. doi: 10.1016/j.ymgme.2008.05.004. Epub 2008 Jun 17.

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