المؤلفون: BATTAGLIA, Giuseppe, BRUNO, Valeria Maria Gloria, FRATI, Luigi, NICOLETTI, Ferdinando, SQUITIERI, Ferdinando, Milena Cannella, Barbara Riozzi, Sara Orobello, Marion L. Maat Schieman, Eleonora Aronica, Carla Letizia Busceti, Andrea Ciarmiello, Silvia Alberti, Enrico Amico, Jenny Sassone, Simonetta Sipione

المساهمون: Battaglia, Giuseppe, Milena, Cannella, Barbara, Riozzi, Sara, Orobello, Marion L., Maat Schieman, Eleonora, Aronica, Carla Letizia, Busceti, Andrea, Ciarmiello, Silvia, Alberti, Enrico, Amico, Jenny, Sassone, Simonetta, Sipione, Bruno, Valeria Maria Gloria, Frati, Luigi, Nicoletti, Ferdinando, Squitieri, Ferdinando

مصطلحات موضوعية: ransforming growth factor-beta, brain cortex, transforming growth factor-β, huntington's disease, neurodegeneration, neurodysfunction, peripheral marker, transforming growth factor-beta

الوصف: A defective expression or activity of neurotrophic factors, such as brain- and glial-derived neurotrophic factors, contributes to neuronal damage in Huntington's disease (HD). Here, we focused on transforming growth factor-beta (TGF-beta(1)), a pleiotropic cytokine with an established role in mechanisms of neuroprotection. Asymptomatic HD patients showed a reduction in TGF-beta(1) levels in the peripheral blood, which was related to trinucleotide mutation length and glucose hypometabolism in the caudate nucleus. Immunohistochemical analysis in post-mortem brain tissues showed that TGF-beta(1) was reduced in cortical neurons of asymptomatic and symptomatic HD patients. Both YAC128 and R6/2 HD mutant mice showed a reduced expression of TGF-beta(1) in the cerebral cortex, localized in neurons, but not in astrocytes. We examined the pharmacological regulation of TGF-beta(1) formation in asymptomatic R6/2 mice, where blood TGF-beta(1) levels were also reduced. In these R6/2 mice, both the mGlu2/3 metabotropic glutamate receptor agonist, LY379268, and riluzole failed to increase TGF-beta(1) formation in the cerebral cortex and corpus striatum, suggesting that a defect in the regulation of TGF-beta(1) production is associated with HD. Accordingly, reduced TGF-beta(1) mRNA and protein levels were found in cultured astrocytes transfected with mutated exon 1 of the human huntingtin gene, and in striatal knock-in cell lines expressing full-length huntingtin with an expanded glutamine repeat. Taken together, our data suggest that serum TGF-beta(1) levels are potential biomarkers of HD development during the asymptomatic phase of the disease, and raise the possibility that strategies aimed at rescuing TGF-beta(1) levels in the brain may influence the progression of HD.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20082658; info:eu-repo/semantics/altIdentifier/wos/WOS:000288798000010; volume:15; issue:3; firstpage:555; lastpage:571; numberofpages:17; journal:JOURNAL OF CELLULAR AND MOLECULAR MEDICINE; http://hdl.handle.net/11573/376481Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79953298589; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000288798000010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-79953298589&partnerID=65&md5=c888b2ee901c0023fd11e112f022eb90Test

الإتاحة: https://doi.org/10.1111/j.1582-4934.2010.01011.xTest
http://hdl.handle.net/11573/376481Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000288798000010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-79953298589&partnerID=65&md5=c888b2ee901c0023fd11e112f022eb90Test

المؤلفون: BLASI, PAOLA, CALDAROLA, SARA, NOVELLETTO, ANDREA, MALASPINA, PATRIZIA, Palmerio, F, Rizzo, C, Carrozzo, R, Gibson, K. M, Deodato, F, Cappa, M, Dionisi_Vici, C

المساهمون: Blasi, P, Palmerio, F, Caldarola, S, Rizzo, C, Carrozzo, R, Gibson, Km, Novelletto, A, Deodato, F, Cappa, M, Dionisi_vici, C, Malaspina, P

مصطلحات موضوعية: succinate semialdehyde dehydrogenase, brain cortex atrophy, case report, chemical analysi, clinical feature, consanguinity, disease severity, electroencephalogram, electroencephalography, enzyme deficiency, family history, female, gene location, gene mutation, genotype, human, infant, letter, molecular genetic, muscle hypotonia, phenotype, priority journal, psychomotor disorder, reverse transcription polymerase chain reaction, speech disorder, strabismu, Base Sequence, DNA, Mental Retardation, Mutation

الوصف: [No abstract available]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16542398; info:eu-repo/semantics/altIdentifier/wos/WOS:000235840300018; volume:69; issue:3; firstpage:294; lastpage:296; journal:CLINICAL GENETICS; http://hdl.handle.net/2108/37937Test; info:eu-repo/semantics/altIdentifier/scopus/http://www.scopus.com/inward/record.url?eid=2-s2.0-33644799832&partnerID=40&md5=13ffd8e8cc20db3c46e7c47d6434d830Test

الإتاحة: https://doi.org/10.1111/j.1399-0004.2006.00579.xTest
http://hdl.handle.net/2108/37937Test

المؤلفون: Blasi, P, Palmerio, F, Caldarola, S, Rizzo, C, Carrozzo, R, Gibson, Km, Novelletto, A, Deodato, F, Cappa, M, Dionisi_vici, C, Malaspina, P

مصطلحات موضوعية: Genotype, phenotype, letter, speech disorder, reverse transcription polymerase chain reaction, consanguinity, Mental Retardation, case report, Humans, succinate semialdehyde dehydrogenase, gene mutation, human, gene location, family history, muscle hypotonia, Base Sequence, brain cortex atrophy, chemical analysis, clinical feature, disease severity, electroencephalogram, electroencephalography, enzyme deficiency, female, genotype, infant, molecular genetics, priority journal, psychomotor disorder, strabismus, DNA, Female, Infant, Mutation, Phenotype, Succinate-Semialdehyde Dehydrogenase, Settore BIO/18 - Genetica

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3667::326ebdb1c436e0fb34ef7fbf9e08ce5fTest
http://hdl.handle.net/2108/37937Test

المؤلفون: Ribases, M., Ramos-Quiroga, J. A., Sanchez-Mora, C., Bosch, R., Richarte, V., Palomar, G., Gastaminza, X., Biesla, A., Muenke, Maximilian, Arcos-Burgos, Mauricio, Castellanos, Francisco Xavier

المصدر: Genes, Brain and Behavior

مصطلحات موضوعية: Keywords: G protein coupled receptor, latrophilin 3, unclassified drug, adult, amygdaloid nucleus, article, attention deficit disorder, brain cortex, case control study, caudate nucleus, cerebellum, Colombia, controlled study, developmental disorder, female, gene i Adult ADHD, Attention-deficit/hyperactivity disorder, Case-control association study, LPHN3

الوصف: Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable developmental disorder characterized by a persistent impairing pattern of inattention and/or hyperactivity-impulsivity. Using families from a genetic isolate, the Paisa population from Colombia, and five independent datasets from four different populations (United States, Germany, Norway and Spain), a highly consistent association was recently reported between ADHD and the latrophilin 3 (LPHN3) gene, a brain-specific member of the LPHN subfamily of G-protein-coupled receptors that is expressed in ADHD-related regions, such as amygdala, caudate nucleus, cerebellum and cerebral cortex. To replicate the association between LPHN3 and ADHD in adults, we undertook a case-control association study in 334 adult patients with ADHD and 334 controls with 43 single nucleotide polymorphisms (SNPs) covering the LPNH3 gene. Single- and multiple-marker analyses showed additional evidence of association between LPHN3 and combined type ADHD in adulthood [P = 0.0019; df = 1; odds ratio (OR) = 1.82 (1.25-2.70) and P = 5.1e-05; df = 1; OR = 2.25 (1.52-3.34), respectively]. These results further support the LPHN3 contribution to combined type ADHD, and specifically to the persistent form of the disorder, and point at this new neuronal pathway as a common susceptibility factor for ADHD throughout the lifespan.

العلاقة: http://hdl.handle.net/1885/78498Test; https://openresearch-repository.anu.edu.au/bitstream/1885/78498/7/01_Ribases_Contribution_of_LPHN3_to_the_2011.pdf.jpgTest

الإتاحة: https://doi.org/10.1111/j.1601-183X.2010.00649.xTest
http://hdl.handle.net/1885/78498Test
https://openresearch-repository.anu.edu.au/bitstream/1885/78498/7/01_Ribases_Contribution_of_LPHN3_to_the_2011.pdf.jpgTest

المصدر: Genes, Brain and Behavior

مستخلص: Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable developmental disorder characterized by a persistent impairing pattern of inattention and/or hyperactivity-impulsivity. Using families from a genetic isolate, the Paisa population from Colombia, and five independent datasets from four different populations (United States, Germany, Norway and Spain), a highly consistent association was recently reported between ADHD and the latrophilin 3 (LPHN3) gene, a brain-specific member of the LPHN subfamily of G-protein-coupled receptors that is expressed in ADHD-related regions, such as amygdala, caudate nucleus, cerebellum and cerebral cortex. To replicate the association between LPHN3 and ADHD in adults, we undertook a case-control association study in 334 adult patients with ADHD and 334 controls with 43 single nucleotide polymorphisms (SNPs) covering the LPNH3 gene. Single- and multiple-marker analyses showed additional evidence of association between LPHN3 and combined type ADHD in adulthood [P = 0.0019; df = 1; odds ratio (OR) = 1.82 (1.25-2.70) and P = 5.1e-05; df = 1; OR = 2.25 (1.52-3.34), respectively]. These results further support the LPHN3 contribution to combined type ADHD, and specifically to the persistent form of the disorder, and point at this new neuronal pathway as a common susceptibility factor for ADHD throughout the lifespan.

مصطلحات الفهرس: Keywords: G protein coupled receptor; latrophilin 3; unclassified drug; adult; amygdaloid nucleus; article; attention deficit disorder; brain cortex; case control study; caudate nucleus; cerebellum; Colombia; controlled study; developmental disorder; female; gene i Adult ADHD; Attention-deficit/hyperactivity disorder; Case-control association study; LPHN3, Journal article

URL: http://hdl.handle.net/1885/78498Test