Novel implications of a strictly monomorphic (GCC) repeat in the human PRKACB gene

Autor: Ali Bozorgmehr, Mostafa Tavakoli, Zahra Jafarian, Hossein Afshar, Razieh Moayedi, Maryam Keshavarz, Mina Ohadi, Safoura Khamse

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific reports 11(1), 20629 (2021). doi:10.1038/s41598-021-99932-3
Scientific Reports

PRKACB (Protein Kinase CAMP-Activated Catalytic Subunit Beta) is predominantly expressed in the brain, and regulation of this gene links to neuroprotective effects against tau and Aβ-induced toxicity. Here we studied a (GCC)-repeat spanning the core

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32360dac237b0e73b169c40eb7438447
https://doi.org/10.1038/s41598-021-99932-3

Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system

Autor: Nicola Antonino Russo, Matthis Synofzik, Omar Torres-Quesada, Sonia Piccinin, Federica Moraca, Herbert Lindner, Bruno Catalanotti, Antonio Feliciello, Ulrich Stelzl, Verena Bachmann, Rossella Delle Donne, Laura Rinaldi, Corrado Garbi, Robert Nisticò, Antonella Scorziello, Lucio Annunziato, Francesco Chiuso, Eduard Stefan, Florian Enzler

Publikováno v: Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications 10(1), 2572 (2019). doi:10.1038/s41467-019-10037-y

Activation of G-protein coupled receptors elevates cAMP levels promoting dissociation of protein kinase A (PKA) holoenzymes and release of catalytic subunits (PKAc). This results in PKAc-mediated phosphorylation of compartmentalized substrates that c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec72f16970a20ebd84c46f8fee3a1473
http://europepmc.org/articles/PMC6561907

FOXG1 Regulates PRKAR2B Transcriptionally and Posttranscriptionally via miR200 in the Adult Hippocampus

Autor: Madeline Craske, Pavankumar Videm, Viktoria Reimann, Verónica I. Dumit, Oliver Schilling, Ganeshkumar Arumugam, Nils Nebel, Tanja Vogel, Wolfgang R. Hess, Andre Fischer, Alejandro Villarreal, Farahnaz Sananbenesi, Stefan Christopher Weise, Stefanie Heidrich, Rolf Backofen

Publikováno v: Molecular neurobiology 56(7), 5188-5201 (2018). doi:10.1007/s12035-018-1444-7
Molecular Neurobiology

Rett syndrome is a complex neurodevelopmental disorder that is mainly caused by mutations in MECP2. However, mutations in FOXG1 cause a less frequent form of atypical Rett syndrome, called FOXG1 syndrome. FOXG1 is a key transcription factor crucial f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57fbf8778af84b06d294ed1643f520e6
https://doi.org/10.1007/s12035-018-1444-7

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

Autor: Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ, Bakker EB, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J, Netherlands Brain Bank, International Parkinsonism Genetics Network, Ferreira J, Correia Guedes L, Chien HF, Barbosa ER, Merola A, Zibetti M, Lopiano L, Tassorelli C, Pacchetti C, Nappi G, Riboldazzi G, Bono G, Padovani A, Borroni B, Fincati E, Bertolasi L, Tinazzi M, Bonizzato A, Dalla Libera A, Guidi M, Marini P, Massaro F, Marconi R, Onofrj M, Thomas A, Vanacore N, Meco G, Fabbrini G, Fabrizio E, Manfredi M, Berardelli A, Stocchi F, Vacca L, De Mari M, Dell'Aquila C, Iliceto G, Lamberti P, Toni V, Trianni G, Saddi V, Cossu G, Melis M., CORTELLI, PIETRO, CAPELLARI, SABINA

Publikováno v: Brain, 137, 1361-1373
Wong, T H, Chiu, W Z, Breedveld, G J, Li, K W, Verkerk, A J, Hondius, D C, Hukema, R K, Seelaar, H, Frick, P, Severijnen, L A, Lammers, G J, Lebbink, J, van Duinen, S G, Kamphorst, W, Rozemuller, A J M, Bakker, E B, Neumann, M, Willemsen, R, Bonifati, V, Smit, A B & van Swieten, J C 2014, ' PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology ', Brain, vol. 137, no. 5, pp. 1361-1373 . https://doi.org/10.1093/brain/awu067
Brain, 137(5), 1361-1373. Oxford University Press
Brain, 137, 1361-1373. Oxford University Press
Brain: a journal of neurology, 137(Pt 5), 1361-73. Oxford University Press
Brain 137(5), 1361-1373 (2014). doi:10.1093/brain/awu067

Inclusions of intermediate filaments are found in a number of neurodegenerative diseases. Using whole exome sequencing, linkage analysis and proteomics, Wong and Chiu et al. identify a new familial neurodegenerative disease with intermediate filament

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75fa646b3cfb07151e5070a075e377f
https://doi.org/10.1093/brain/awu067

Counterregulation of cAMP-directed kinase activities controls ciliogenesis

Autor: Porpora, Monia, Sauchella, Simona, Bachmann, Verena A, Synofzik, Matthis, Lindner, Herbert H, Conte, Ivan, Stefan, Eduard, Feliciello, Antonio, Rinaldi, Laura, Delle Donne, Rossella, Sepe, Maria, Torres-Quesada, Omar, Intartaglia, Daniela, Garbi, Corrado, Insabato, Luigi, Santoriello, Margherita

Publikováno v: Nature Communications
Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
Nature Communications 9(1), 1224 (2018). doi:10.1038/s41467-018-03643-9

The primary cilium emanates from the cell surface of growth-arrested cells and plays a central role in vertebrate development and tissue homeostasis. The mechanisms that control ciliogenesis have been extensively explored. However, the intersection b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6df9644593bab70b8bc5c09bce98e621
https://pubmed.ncbi.nlm.nih.gov/29581457