| No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease. | No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease.
Huang TT, Smith R, Bacos K, Song DY, Faull RM, Waldvogel HJ, Li JY., Free PMC Article | 05/29/2021 |
| In an analysis comparing 1,942 cases with lifetime diagnosis of MDD and 4,565 controls, PCLO showed a genome-wide significant association with major depressive disorder at SNP (rs2715157, p = 2.91 x 10-8) and gene-based (p = 1.48 x 10-7) level. | Genome-Wide Significance for PCLO as a Gene for Major Depressive Disorder.
Mbarek H, Milaneschi Y, Hottenga JJ, Ligthart L, de Geus EJC, Ehli EA, Willemsen G, Davies GE, Smit JH, Boomsma DI, Penninx BWJH. | 02/10/2018 |
| The results showed that Piccolo, a protein that is essential in the maintenance of active zone structure, constitutes a potential serological correlate of recovery from GBS. | Quantitative proteomics reveals Piccolo as a candidate serological correlate of recovery from Guillain-Barré syndrome.
Mateos-Hernández L, Villar M, Doncel-Pérez E, Trevisan-Herraz M, García-Forcada Á, Ganuza FR, Vázquez J, de la Fuente J., Free PMC Article | 02/10/2018 |
| we report an additional patient with the 7q21.11 deletion syndrome and provide evidence that haploinsufficiency for a single gene may not be the disease mechanism. In vitro studies of the interaction between PCLO and CACNA2D1 will be required to examine the hypothesis that combined haploinsufficiency for these two synaptic proteins results in neuronal dysfunction | A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy.
Siddique A, Willoughby J, DDD Study, McNeill A. | 12/2/2017 |
| Piccolo contributes to tumor aggressiveness in esophageal squamous cell carcinoma, likely by stabilizing EGFR and promoting EGFR-dependent signaling. | Piccolo mediates EGFR signaling and acts as a prognostic biomarker in esophageal squamous cell carcinoma.
Zhang W, Hong R, Xue L, Ou Y, Liu X, Zhao Z, Xiao W, Dong D, Dong L, Fu M, Ma L, Lu N, Chen H, Song Y, Zhan Q. | 09/23/2017 |
| Results provide some support for the involvement of BICC1 and PCLO in late-life depressive disorders and preliminary evidence that these genetic variants may also influence brain structural volumes | GWAS-identified risk variants for major depressive disorder: Preliminary support for an association with late-life depressive symptoms and brain structural alterations.
Ryan J, Artero S, Carrière I, Maller JJ, Meslin C, Ritchie K, Ancelin ML. | 10/29/2016 |
| Study created and characterized a knock-in mouse model carrying the PCLO Ser to Ala missense variant rs2522833, which has shown suggestive association with major depressive disorder in human population studies | Functional characterization of the PCLO p.Ser4814Ala variant associated with major depressive disorder reveals cellular but not behavioral differences.
Giniatullina A, Maroteaux G, Geerts CJ, Koopmans B, Loos M, Klaassen R, Chen N, van der Schors RC, van Nierop P, Li KW, de Jong J, Altrock WD, Cornelisse LN, Toonen RF, van der Sluis S, Sullivan PF, Stiedl O, Posthuma D, Smit AB, Groffen AJ, Verhage M. | 04/2/2016 |
| PCLO intron rs13438494 is associated with drug abuse and contributes to the pathogenesis of psychiatric disorders via modulation of neurotransmitter turnover. | The Piccolo Intronic Single Nucleotide Polymorphism rs13438494 Regulates Dopamine and Serotonin Uptake and Shows Associations with Dependence-Like Behavior in Genomic Association Study.
Uno K, Nishizawa D, Seo S, Takayama K, Matsumura S, Sakai N, Ohi K, Nabeshima T, Hashimoto R, Ozaki N, Hasegawa J, Sato N, Tanioka F, Sugimura H, Fukuda KI, Higuchi S, Ujike H, Inada T, Iwata N, Sora I, Iyo M, Kondo N, Won MJ, Naruse N, Uehara-Aoyama K, Itokawa M, Yamada M, Ikeda K, Miyamoto Y, Nitta A. | 02/13/2016 |
| PCLO risk allele carrying remitted depressed patients did not show more negatively biased memory than non-risk allele carriers, not even patients with stressful childhood events. | No evidence for the association between a polymorphism in the PCLO depression candidate gene with memory bias in remitted depressed patients and healthy individuals.
Vrijsen JN, Speckens A, Arias-Vásquez A, Franke B, Becker ES, van Oostrom I., Free PMC Article | 12/19/2015 |
| The subsequent validation study on 68 LCBs identified recurrent mutations in TERT promoter, chromatin regulators (BAP1, PBRM1 and ARID2), a synapse organization gene (PCLO), IDH genes and KRAS. | Whole-genome mutational landscape of liver cancers displaying biliary phenotype reveals hepatitis impact and molecular diversity.
Fujimoto A, Furuta M, Shiraishi Y, Gotoh K, Kawakami Y, Arihiro K, Nakamura T, Ueno M, Ariizumi S, Nguyen HH, Shigemizu D, Abe T, Boroevich KA, Nakano K, Sasaki A, Kitada R, Maejima K, Yamamoto Y, Tanaka H, Shibuya T, Shibata T, Ojima H, Shimada K, Hayami S, Shigekawa Y, Aikata H, Ohdan H, Marubashi S, Yamada T, Kubo M, Hirano S, Ishikawa O, Yamamoto M, Yamaue H, Chayama K, Miyano S, Tsunoda T, Nakagawa H. | 10/31/2015 |
| A homozygous, nonsense PCLO mutation underlies the autosomal recessive neurodegenerative disorder pontocerebellar hypoplasia type III. | Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH., Free PMC Article | 07/25/2015 |
| PCLO and CACNA1C depression risk alleles jointly affect memory-related subgenual cingulate activity. | Epistatic interaction of genetic depression risk variants in the human subgenual cingulate cortex during memory encoding.
Schott BH, Assmann A, Schmierer P, Soch J, Erk S, Garbusow M, Mohnke S, Pöhland L, Romanczuk-Seiferth N, Barman A, Wüstenberg T, Haddad L, Grimm O, Witt S, Richter S, Klein M, Schütze H, Mühleisen TW, Cichon S, Rietschel M, Noethen MM, Tost H, Gundelfinger ED, Düzel E, Heinz A, Meyer-Lindenberg A, Seidenbecher CI, Walter H., Free PMC Article | 03/7/2015 |
| For neither PCLO nor GRM7 we found a more associated variant. For SLC6A4, we found a new SNP that showed a lower P-value than in the GAIN-MDD GWAS | Resequencing three candidate genes for major depressive disorder in a Dutch cohort.
Verbeek EC, Bevova MR, Bochdanovits Z, Rizzu P, Bakker IM, Uithuisje T, De Geus EJ, Smit JH, Penninx BW, Boomsma DI, Hoogendijk WJ, Heutink P., Free PMC Article | 09/27/2014 |
| The results demonstrate that rs13438494 intron 24 of PCLO gene alters the splicing efficiency by creating or disrupting a splicing motif that functions by binding of the splicing regulatory protein and may ultimately influence bipolar disorder. | Functional analysis of deep intronic SNP rs13438494 in intron 24 of PCLO gene.
Seo S, Takayama K, Uno K, Ohi K, Hashimoto R, Nishizawa D, Ikeda K, Ozaki N, Nabeshima T, Miyamoto Y, Nitta A., Free PMC Article | 07/12/2014 |
| The role of the PCLO risk allele on functional magnetic resonance imaging (MRI) correlates of emotional memory in a sample of 89 major depressive disorder patients, was investigated. | Modulatory effects of the piccolo genotype on emotional memory in health and depression.
Woudstra S, van Tol MJ, Bochdanovits Z, van der Wee NJ, Zitman FG, van Buchem MA, Opmeer EM, Aleman A, Penninx BW, Veltman DJ, Hoogendijk WJ., Free PMC Article | 11/16/2013 |
| Single-nucleotide polymorphism rs2522833 within the PCLO gene might increase vulnerability to major depression both by physiological and behavioral pathways. | PCLO rs2522833 impacts HPA system activity in healthy young adults.
Kuehner C, Huffziger S, Witt SH, Rietschel M., Free PMC Article | 04/6/2013 |
| The PCLO risk allele was found to be specifically associated with altered emotion processing, but not with executive dysfunction. Moreover, the PCLO risk allele appears to modulate amygdala function during fearful facial processing. | Piccolo genotype modulates neural correlates of emotion processing but not executive functioning.
Woudstra S, Bochdanovits Z, van Tol MJ, Veltman DJ, Zitman FG, van Buchem MA, van der Wee NJ, Opmeer EM, Demenescu LR, Aleman A, Penninx BW, Hoogendijk WJ., Free PMC Article | 03/9/2013 |
| In this study, the genotype distributions and allele frequencies of PCLO rs2522833 polymorphisms were examined in 267 Japanese healthy subjects | Genotype distributions and allele frequencies of possible major depressive disorder-associated single nucleotide polymorphisms, cyclic adenosine monophosphate response element binding protein 1 rs4675690 and Piccolo rs2522833, in a Japanese population.
Inoue K, Ando N, Suzuki E, Hayashi H, Tsuji D, Itoh K. | 07/7/2012 |
| Piccolo transgenic mice exhibit depression-like behavior in forced swim and tail suspension tests, which may suggest that a single nucleotide polymorphism in the piccolo C2A domain may be a causal risk factor for major depression. | Overexpression of piccolo C2A domain induces depression-like behavior in mice.
Furukawa-Hibi Y, Nitta A, Fukumitsu H, Somiya H, Furukawa S, Nabeshima T, Yamada K. | 11/12/2011 |
| In major depressive disorder genome-wide association study, best femalee-specific SNP was rs2715148 within PCLO gene | Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.
Aragam N, Wang KS, Pan Y. | 11/5/2011 |
| one SNP (rs13438494), in an intron of the piccolo gene, was significantly associated with bipolar disorder | Gene expression and genetic variation data implicate PCLO in bipolar disorder.
Choi KH, Higgs BW, Wendland JR, Song J, McMahon FJ, Webster MJ., Free PMC Article | 05/7/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M, Tokunaga K. | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| PCLO is associated with depressive disorders in a population-based study. | The PCLO gene and depressive disorders: replication in a population-based study.
Hek K, Mulder CL, Luijendijk HJ, van Duijn CM, Hofman A, Uitterlinden AG, Tiemeier H. | 04/12/2010 |
| Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) | Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
Liu Y, Blackwood DH, Caesar S, de Geus EJ, Farmer A, Ferreira MA, Ferrier IN, Fraser C, Gordon-Smith K, Green EK, Grozeva D, Gurling HM, Hamshere ML, Heutink P, Holmans PA, Hoogendijk WJ, Hottenga JJ, Jones L, Jones IR, Kirov G, Lin D, McGuffin P, Moskvina V, Nolen WA, Perlis RH, Posthuma D, Scolnick EM, Smit AB, Smit JH, Smoller JW, St Clair D, van Dyck R, Verhage M, Willemsen G, Young AH, Zandbelt T, Boomsma DI, Craddock N, O'Donovan MC, Owen MJ, Penninx BW, Purcell S, Sklar P, Sullivan PF, Wellcome Trust Case-Control Consortium., Free PMC Article | 04/7/2010 |