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Neuropathology of vitamin B12 deficiency in the Cd320-/- mouse.

Arora K, Sequeira JM, Alarcon JM, Wasek B, Arning E, Bottiglieri T, Quadros EV.

FASEB J. 2018 Oct 10:fj201800754RR. doi: 10.1096/fj.201800754RR. [Epub ahead of print]


Inherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuR.

Battaglia-Hsu SF, Ghemrawi R, Coelho D, Dreumont N, Mosca P, Hergalant S, Gauchotte G, Sequeira JM, Ndiongue M, Houlgatte R, Alberto JM, Umoret R, Robert A, Paoli J, Jung M, Quadros EV, Guéant JL.

Nucleic Acids Res. 2018 Sep 6;46(15):7844-7857. doi: 10.1093/nar/gky634.


Transcellular transport of cobalamin in aortic endothelial cells.

Hannibal L, Bolisetty K, Axhemi A, DiBello PM, Quadros EV, Fedosov S, Jacobsen DW.

FASEB J. 2018 Oct;32(10):5506-5519. doi: 10.1096/fj.201701141RR. Epub 2018 May 9.


Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

Ramaekers VT, Segers K, Sequeira JM, Koenig M, Van Maldergem L, Bours V, Kornak U, Quadros EV.

Mol Genet Metab. 2018 May;124(1):87-93. doi: 10.1016/j.ymgme.2018.03.001. Epub 2018 Mar 3.


Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents.

Quadros EV, Sequeira JM, Brown WT, Mevs C, Marchi E, Flory M, Jenkins EC, Velinov MT, Cohen IL.

Autism Res. 2018 May;11(5):707-712. doi: 10.1002/aur.1934. Epub 2018 Feb 2.


Folate metabolism abnormalities in autism: potential biomarkers.

Frye RE, Slattery JC, Quadros EV.

Biomark Med. 2017 Aug 3. doi: 10.2217/bmm-2017-0109. [Epub ahead of print]


Behavioral alterations are associated with vitamin B12 deficiency in the transcobalamin receptor/CD320 KO mouse.

Arora K, Sequeira JM, Hernández AI, Alarcon JM, Quadros EV.

PLoS One. 2017 May 18;12(5):e0177156. doi: 10.1371/journal.pone.0177156. eCollection 2017.


Maternofetal transport of vitamin B12: role of TCblR/CD320 and megalin.

Arora K, Sequeira JM, Quadros EV.

FASEB J. 2017 Jul;31(7):3098-3106. doi: 10.1096/fj.201700025R. Epub 2017 Mar 28.


Thyroid dysfunction in children with autism spectrum disorder is associated with folate receptor α autoimmune disorder.

Frye RE, Wynne R, Rose S, Slattery J, Delhey L, Tippett M, Kahler SG, Bennuri SC, Melnyk S, Sequeira JM, Quadros EV.

J Neuroendocrinol. 2017 Mar;29(3). doi: 10.1111/jne.12461.


Folinic acid improves verbal communication in children with autism and language impairment: a randomized double-blind placebo-controlled trial.

Frye RE, Slattery J, Delhey L, Furgerson B, Strickland T, Tippett M, Sailey A, Wynne R, Rose S, Melnyk S, Jill James S, Sequeira JM, Quadros EV.

Mol Psychiatry. 2018 Feb;23(2):247-256. doi: 10.1038/mp.2016.168. Epub 2016 Oct 18.


Prevention of behavioral deficits in rats exposed to folate receptor antibodies: implication in autism.

Desai A, Sequeira JM, Quadros EV.

Mol Psychiatry. 2017 Sep;22(9):1291-1297. doi: 10.1038/mp.2016.153. Epub 2016 Sep 20.


The basis for folinic acid treatment in neuro-psychiatric disorders.

Ramaekers VT, Sequeira JM, Quadros EV.

Biochimie. 2016 Jul;126:79-90. doi: 10.1016/j.biochi.2016.04.005. Epub 2016 Apr 8. Review.


Exposure to Folate Receptor Alpha Antibodies during Gestation and Weaning Leads to Severe Behavioral Deficits in Rats: A Pilot Study.

Sequeira JM, Desai A, Berrocal-Zaragoza MI, Murphy MM, Fernandez-Ballart JD, Quadros EV.

PLoS One. 2016 Mar 24;11(3):e0152249. doi: 10.1371/journal.pone.0152249. eCollection 2016.


The metabolic basis for developmental disorders due to defective folate transport.

Desai A, Sequeira JM, Quadros EV.

Biochimie. 2016 Jul;126:31-42. doi: 10.1016/j.biochi.2016.02.012. Epub 2016 Feb 24. Review.


Folate receptor autoantibodies in pregnancy related complications.

Shapira I, Sequeira JM, Quadros EV.

Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1028-30. doi: 10.1002/bdra.23436. Epub 2015 Sep 21.


The role of folate receptor autoantibodies in preterm birth.

Vo HD, Sequeira JM, Quadros EV, Schwarz SM, Perenyi AR.

Nutrition. 2015 Oct;31(10):1224-7. doi: 10.1016/j.nut.2015.04.008. Epub 2015 May 11.


Folinic acid treatment for schizophrenia associated with folate receptor autoantibodies.

Ramaekers VT, Thöny B, Sequeira JM, Ansseau M, Philippe P, Boemer F, Bours V, Quadros EV.

Mol Genet Metab. 2014 Dec;113(4):307-14. doi: 10.1016/j.ymgme.2014.10.002. Epub 2014 Oct 12.


Folate deficiency in rat pups during weaning causes learning and memory deficits.

Berrocal-Zaragoza MI, Sequeira JM, Murphy MM, Fernandez-Ballart JD, Abdel Baki SG, Bergold PJ, Quadros EV.

Br J Nutr. 2014 Oct 28;112(8):1323-32. doi: 10.1017/S0007114514002116.


Mapping the functional domains of TCblR/CD320, the receptor for cellular uptake of transcobalamin-bound cobalamin.

Jiang W, Nakayama Y, Sequeira JM, Quadros EV.

FASEB J. 2013 Aug;27(8):2988-94. doi: 10.1096/fj.13-230185. Epub 2013 Apr 19.


The transcobalamin receptor knockout mouse: a model for vitamin B12 deficiency in the central nervous system.

Lai SC, Nakayama Y, Sequeira JM, Wlodarczyk BJ, Cabrera RM, Finnell RH, Bottiglieri T, Quadros EV.

FASEB J. 2013 Jun;27(6):2468-75. doi: 10.1096/fj.12-219055. Epub 2013 Feb 21.


Cellular uptake of cobalamin: transcobalamin and the TCblR/CD320 receptor.

Quadros EV, Sequeira JM.

Biochimie. 2013 May;95(5):1008-18. doi: 10.1016/j.biochi.2013.02.004. Epub 2013 Feb 14. Review.


The diagnostic utility of folate receptor autoantibodies in blood.

Sequeira JM, Ramaekers VT, Quadros EV.

Clin Chem Lab Med. 2013 Mar 1;51(3):545-54. doi: 10.1515/cclm-2012-0577. Review.


Clinical recognition and aspects of the cerebral folate deficiency syndromes.

Ramaekers V, Sequeira JM, Quadros EV.

Clin Chem Lab Med. 2013 Mar 1;51(3):497-511. doi: 10.1515/cclm-2012-0543. Review.


Vitamin B12 deficiency in the brain leads to DNA hypomethylation in the TCblR/CD320 knockout mouse.

Fernàndez-Roig S, Lai SC, Murphy MM, Fernandez-Ballart J, Quadros EV.

Nutr Metab (Lond). 2012 May 18;9:41. doi: 10.1186/1743-7075-9-41.


Role of folate receptor autoantibodies in infantile autism.

Ramaekers VT, Quadros EV, Sequeira JM.

Mol Psychiatry. 2013 Mar;18(3):270-1. doi: 10.1038/mp.2012.22. Epub 2012 Apr 10. No abstract available.


Cerebral folate receptor autoantibodies in autism spectrum disorder.

Frye RE, Sequeira JM, Quadros EV, James SJ, Rossignol DA.

Mol Psychiatry. 2013 Mar;18(3):369-81. doi: 10.1038/mp.2011.175. Epub 2012 Jan 10.


Soluble transcobalamin receptor, sCD320, is present in human serum and relates to serum cobalamin - establishment and validation of an ELISA.

Arendt JF, Quadros EV, Nexo E.

Clin Chem Lab Med. 2011 Dec 5;50(3):515-9. doi: 10.1515/CCLM.2011.810.


Down-regulation of transcobalamin receptor TCblR/CD320 by siRNA inhibits cobalamin uptake and proliferation of cells in culture.

Lai SC, Nakayama Y, Sequeira JM, Quadros EV.

Exp Cell Res. 2011 Jul 1;317(11):1603-7. doi: 10.1016/j.yexcr.2011.02.016. Epub 2011 Mar 4.


Targeted delivery of saporin toxin by monoclonal antibody to the transcobalamin receptor, TCblR/CD320.

Quadros EV, Nakayama Y, Sequeira JM.

Mol Cancer Ther. 2010 Nov;9(11):3033-40. doi: 10.1158/1535-7163.MCT-10-0513. Epub 2010 Sep 21.


Characterizing monoclonal antibodies to antigenic domains of TCblR/CD320, the receptor for cellular uptake of transcobalamin-bound cobalamin.

Jiang W, Nakayama Y, Sequeira JM, Quadros EV.

Drug Deliv. 2011 Jan;18(1):74-8. doi: 10.3109/10717544.2010.509745. Epub 2010 Sep 20.


Characterization of the promoter region of TCblR/CD320 gene, the receptor for cellular uptake of transcobalamin-bound cobalamin.

Jiang W, Sequeira JM, Nakayama Y, Lai SC, Quadros EV.

Gene. 2010 Oct 15;466(1-2):49-55. doi: 10.1016/j.gene.2010.07.004. Epub 2010 Jul 11.


Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.

Pangilinan F, Mitchell A, VanderMeer J, Molloy AM, Troendle J, Conley M, Kirke PN, Sutton M, Sequeira JM, Quadros EV, Scott JM, Mills JL, Brody LC.

J Med Genet. 2010 Oct;47(10):677-85. doi: 10.1136/jmg.2009.073775. Epub 2010 Jun 24. Erratum in: J Med Genet. 2012 Dec;49(12):784.


Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).

Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher RC, Anastasio N, Watkins D, Rosenblatt DS.

Hum Mutat. 2010 Aug;31(8):924-9. doi: 10.1002/humu.21297.


Advances in the understanding of cobalamin assimilation and metabolism.

Quadros EV.

Br J Haematol. 2010 Jan;148(2):195-204. doi: 10.1111/j.1365-2141.2009.07937.x. Epub 2009 Oct 12. Review.


Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

Hasselmann O, Blau N, Ramaekers VT, Quadros EV, Sequeira JM, Weissert M.

Mol Genet Metab. 2010 Jan;99(1):58-61. doi: 10.1016/j.ymgme.2009.08.005.


Lack of association between folate-receptor autoantibodies and neural-tube defects.

Molloy AM, Quadros EV, Sequeira JM, Troendle JF, Scott JM, Kirke PN, Mills JL.

N Engl J Med. 2009 Jul 9;361(2):152-60. doi: 10.1056/NEJMoa0803783.


Acetoacetate reduces growth and ATP concentration in cancer cell lines which over-express uncoupling protein 2.

Fine EJ, Miller A, Quadros EV, Sequeira JM, Feinman RD.

Cancer Cell Int. 2009 May 29;9:14. doi: 10.1186/1475-2867-9-14.


High milk consumers have an increased risk of folate receptor blocking autoantibody production but this does not affect folate status in Spanish men and women.

Berrocal-Zaragoza MI, Murphy MM, Ceruelo S, Quadros EV, Sequeira JM, Fernandez-Ballart JD.

J Nutr. 2009 May;139(5):1037-41. doi: 10.3945/jn.108.102475. Epub 2009 Mar 12.


Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF.

Ament AE, Li Z, Sturm AC, Perko JD, Lawson S, Masterson M, Quadros EV, Tanner SM.

Br J Haematol. 2009 Feb;144(4):622-4. doi: 10.1111/j.1365-2141.2008.07496.x. Epub 2008 Nov 19. No abstract available.


Association between blocking folate receptor autoantibodies and subfertility.

Berrocal-Zaragoza MI, Fernandez-Ballart JD, Murphy MM, Cavallé-Busquets P, Sequeira JM, Quadros EV.

Fertil Steril. 2009 Apr;91(4 Suppl):1518-21. doi: 10.1016/j.fertnstert.2008.08.104. Epub 2008 Oct 23.


Progressive encephalopathy in a child with cerebral folate deficiency syndrome.

Bonkowsky JL, Ramaekers VT, Quadros EV, Lloyd M.

J Child Neurol. 2008 Dec;23(12):1460-3. doi: 10.1177/0883073808318546. Epub 2008 Oct 14.


The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin.

Quadros EV, Nakayama Y, Sequeira JM.

Blood. 2009 Jan 1;113(1):186-92. doi: 10.1182/blood-2008-05-158949. Epub 2008 Sep 8.


Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits.

Ramaekers VT, Blau N, Sequeira JM, Nassogne MC, Quadros EV.

Neuropediatrics. 2007 Dec;38(6):276-81. doi: 10.1055/s-2008-1065354.


Mitochondrial diseases associated with cerebral folate deficiency.

Garcia-Cazorla A, Quadros EV, Nascimento A, Garcia-Silva MT, Briones P, Montoya J, Ormazábal A, Artuch R, Sequeira JM, Blau N, Arenas J, Pineda M, Ramaekers VT.

Neurology. 2008 Apr 15;70(16):1360-2. doi: 10.1212/01.wnl.0000309223.98616.e4. No abstract available.


A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome.

Ramaekers VT, Sequeira JM, Blau N, Quadros EV.

Dev Med Child Neurol. 2008 May;50(5):346-52. doi: 10.1111/j.1469-8749.2008.02053.x. Epub 2008 Mar 19.


Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency.

Ramaekers VT, Weis J, Sequeira JM, Quadros EV, Blau N.

Neuropediatrics. 2007 Aug;38(4):184-7.


Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome.

Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazabal A, Pineda M, Aracil A, Roelens F, Laccone F, Quadros EV.

Neuropediatrics. 2007 Aug;38(4):179-83.


Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2).

Guéant JL, Chabi NW, Guéant-Rodriguez RM, Mutchinick OM, Debard R, Payet C, Lu X, Villaume C, Bronowicki JP, Quadros EV, Sanni A, Amouzou E, Xia B, Chen M, Anello G, Bosco P, Romano C, Arrieta HR, Sánchez BE, Romano A, Herbeth B, Anwar W, Namour F.

J Med Genet. 2007 Jun;44(6):363-7. Epub 2007 Jan 12.


Characterization of a monoclonal antibody with specificity for holo-transcobalamin.

Orning L, Rian A, Campbell A, Brady J, Fedosov SN, Bramlage B, Thompson K, Quadros EV.

Nutr Metab (Lond). 2006 Jan 4;3:3.

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