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Gargus, John Jay

Title(s)Professor, Physiology and Biophysics
Phone(949) 824-7702
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Nguyen RL, Medvedeva YV, Ayyagari TE, Schmunk G, Gargus JJ. Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways. Biochim Biophys Acta Mol Cell Res. 2018 11; 1865(11 Pt B):1718-1732. PMID: 30992134.
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    2. Schmunk G, Nguyen RL, Ferguson DL, Kumar K, Parker I, Gargus JJ. High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder. Sci Rep. 2017 02 01; 7:40740. PMID: 28145469.
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    3. Schmunk G, Boubion BJ, Smith IF, Parker I, Gargus JJ. Shared functional defect in IP3R-mediated calcium signaling in diverse monogenic autism syndromes. Transl Psychiatry. 2015 Sep 22; 5:e643. PMID: 26393489.
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    4. Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H. The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. Circ Cardiovasc Genet. 2013 Dec; 6(6):615-23. PMID: 24200904.
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    5. Schmunk G, Gargus JJ. Channelopathy pathogenesis in autism spectrum disorders. Front Genet. 2013 Nov 05; 4:222. PMID: 24204377.
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    6. Steller J, Gargus JJ, Gibbs LH, Hasso AN, Kimonis VE. Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1a subunit gene (PDHA1). Neuropediatrics. 2014 Feb; 45(1):56-60. PMID: 23572181.
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    7. Smith M, Flodman PL, Gargus JJ, Simon MT, Verrell K, Haas R, Reiner GE, Naviaux R, Osann K, Spence MA, Wallace DC. Mitochondrial and ion channel gene alterations in autism. Biochim Biophys Acta. 2012 Oct; 1817(10):1796-802. PMID: 22538295.
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    8. Gargus JJ. Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism. Ann N Y Acad Sci. 2009 Jan; 1151:133-56. PMID: 19154521.
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    9. Gargus JJ, Tournay A. Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. Pediatr Neurol. 2007 Dec; 37(6):407-10. PMID: 18021921.
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    10. Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V. Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy. Mitochondrion. 2008 Mar; 8(2):136-45. PMID: 18078792.
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    11. Liang B, Moussaif M, Kuan CJ, Gargus JJ, Sze JY. Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses. Cell Metab. 2006 Dec; 4(6):429-40. PMID: 17141627.
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    12. Blostein R, Segall L, Gargus JJ. [ATP1A2: a key player in familial hemiplegic migraine]. Med Sci (Paris). 2006 Apr; 22(4):341-3. PMID: 16597394.
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    13. Gargus JJ. Ion channel functional candidate genes in multigenic neuropsychiatric disease. Biol Psychiatry. 2006 Jul 15; 60(2):177-85. PMID: 16497276.
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    14. Segall L, Mezzetti A, Scanzano R, Gargus JJ, Purisima E, Blostein R. Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2. Proc Natl Acad Sci U S A. 2005 Aug 02; 102(31):11106-11. PMID: 16037212.
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    15. Filipek PA, Juranek J, Nguyen MT, Cummings C, Gargus JJ. Relative carnitine deficiency in autism. J Autism Dev Disord. 2004 Dec; 34(6):615-23. PMID: 15679182.
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    16. Segall L, Scanzano R, Kaunisto MA, Wessman M, Palotie A, Gargus JJ, Blostein R. Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2. J Biol Chem. 2004 Oct 15; 279(42):43692-6. PMID: 15308625.
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    17. Kaunisto MA, Harno H, Vanmolkot KR, Gargus JJ, Sun G, Hämäläinen E, Liukkonen E, Kallela M, van den Maagdenberg AM, Frants RR, Färkkilä M, Palotie A, Wessman M. A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. Neurogenetics. 2004 Jun; 5(2):141-6. PMID: 15133718.
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    18. Rajpoot DK, Gargus JJ. Acute hemodialysis for hyperammonemia in small neonates. Pediatr Nephrol. 2004 Apr; 19(4):390-5. PMID: 14997371.
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    19. Kolski-Andreaco A, Tomita H, Shakkottai VG, Gutman GA, Cahalan MD, Gargus JJ, Chandy KG. SK3-1C, a dominant-negative suppressor of SKCa and IKCa channels. J Biol Chem. 2004 Feb 20; 279(8):6893-904. PMID: 14638680.
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    20. Sun G, Gargus JJ, Ta DT, Vickery LE. Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone. J Hum Genet. 2003; 48(8):415-9. PMID: 12938016.
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    21. Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M, Masser-Frye D, Laulhere TM, Modahl C, Spence MA, Gargus JJ. Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol. 2003 Jun; 53(6):801-4. PMID: 12783428.
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    22. Tomita H, Shakkottai VG, Gutman GA, Sun G, Bunney WE, Cahalan MD, Chandy KG, Gargus JJ. Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia. Mol Psychiatry. 2003 May; 8(5):524-35, 460. PMID: 12808432.
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    23. Gargus JJ. Unraveling monogenic channelopathies and their implications for complex polygenic disease. Am J Hum Genet. 2003 Apr; 72(4):785-803. PMID: 12629596.
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    24. Gargus JJ, Boyle K, Bocian M, Roe DS, Vianey-Saban C, Roe CR. Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation. J Inherit Metab Dis. 2003; 26(7):659-70. PMID: 14707514.
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    25. Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr. 2002 Jul; 161(7):377-9. PMID: 12111189.
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    26. Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N. Phenotype and genotype variation in primary carnitine deficiency. Genet Med. 2001 Nov-Dec; 3(6):387-92. PMID: 11715001.
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    27. Shakkottai VG, Regaya I, Wulff H, Fajloun Z, Tomita H, Fathallah M, Cahalan MD, Gargus JJ, Sabatier JM, Chandy KG. Design and characterization of a highly selective peptide inhibitor of the small conductance calcium-activated K+ channel, SkCa2. J Biol Chem. 2001 Nov 16; 276(46):43145-51. PMID: 11527975.
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    28. Miller MJ, Rauer H, Tomita H, Rauer H, Gargus JJ, Gutman GA, Cahalan MD, Chandy KG. Nuclear localization and dominant-negative suppression by a mutant SKCa3 N-terminal channel fragment identified in a patient with schizophrenia. J Biol Chem. 2001 Jul 27; 276(30):27753-6. PMID: 11395478.
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    29. Sun G, Tomita H, Shakkottai VG, Gargus JJ. Genomic organization and promoter analysis of human KCNN3 gene. J Hum Genet. 2001; 46(8):463-70. PMID: 11501944.
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    30. Antonarakis SE, Blouin JL, Lasseter VK, Gehrig C, Radhakrishna U, Nestadt G, Housman DE, Kazazian HH, Kalman K, Gutman G, Fantino E, Chandy KG, Gargus JJ, Pulver AE. Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21. Am J Med Genet. 1999 Aug 20; 88(4):348-51. PMID: 10402501.
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    31. Dror V, Shamir E, Ghanshani S, Kimhi R, Swartz M, Barak Y, Weizman R, Avivi L, Litmanovitch T, Fantino E, Kalman K, Jones EG, Chandy KG, Gargus JJ, Gutman GA, Navon R. hKCa3/KCNN3 potassium channel gene: association of longer CAG repeats with schizophrenia in Israeli Ashkenazi Jews, expression in human tissues and localization to chromosome 1q21. Mol Psychiatry. 1999 May; 4(3):254-60. PMID: 10395215.
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    32. Gargus JJ, Fantino E, Gutman GA. A piece in the puzzle: an ion channel candidate gene for schizophrenia. Mol Med Today. 1998 Dec; 4(12):518-24. PMID: 9866821.
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    33. Li T, Hu X, Chandy KG, Fantino E, Kalman K, Gutman G, Gargus JJ, Freeman B, Murray RM, Dawson E, Liu X, Bruinvels AT, Sham PC, Collier DA. Transmission disequilibrium analysis of a triplet repeat within the hKCa3 gene using family trios with schizophrenia. Biochem Biophys Res Commun. 1998 Oct 20; 251(2):662-5. PMID: 9792831.
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    34. Vargas GA, Isas JM, Fantino E, Gargus JJ, Haigler HT. CCG1/TAF(II)250 regulates epidermal growth factor receptor gene transcription in cell cycle mutant ts13. J Cell Physiol. 1998 Sep; 176(3):642-7. PMID: 9699517.
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    35. Ghanshani S, Coleman M, Gustavsson P, Wu AC, Gargus JJ, Gutman GA, Dahl N, Mohrenweiser H, Chandy KG. Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia. Genomics. 1998 Jul 01; 51(1):160-1. PMID: 9693050.
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    36. Bowen T, Guy CA, Craddock N, Cardno AG, Williams NM, Spurlock G, Murphy KC, Jones LA, Gray M, Sanders RD, McCarthy G, Chandy KG, Fantino E, Kalman K, Gutman GA, Gargus JJ, Williams J, McGuffin P, Owen MJ, O'Donovan MC. Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia. Mol Psychiatry. 1998 May; 3(3):266-9. PMID: 9672903.
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    37. Chandy KG, Fantino E, Wittekindt O, Kalman K, Tong LL, Ho TH, Gutman GA, Crocq MA, Ganguli R, Nimgaonkar V, Morris-Rosendahl DJ, Gargus JJ. Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder? Mol Psychiatry. 1998 Jan; 3(1):32-7. PMID: 9491810.
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    38. Nguyen HB, Estacion M, Gargus JJ. Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts. Hum Mol Genet. 1997 May; 6(5):681-8. PMID: 9158142.
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    39. Vargas GA, Fantino E, George-Nascimento C, Gargus JJ, Haigler HT. Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice. J Clin Invest. 1996 Jun 01; 97(11):2426-32. PMID: 8647934.
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    40. Estacion M, Nguyen HB, Gargus JJ. Calcium is permeable through a maitotoxin-activated nonselective cation channel in mouse L cells. Am J Physiol. 1996 Apr; 270(4 Pt 1):C1145-52. PMID: 8928742.
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