LEADER 02411nam 2200385 450 001 9910571727703321 005 20230516214302.0 024 7 $a10.36253/978-88-5518-082-5 035 $a(CKB)5860000000047634 035 $a(NjHacI)995860000000047634 035 $a(EXLCZ)995860000000047634 100 $a20230516d2020 uy 0 101 0 $aeng 135 $aur||||||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aNew insights into creatine transporter deficiency $eIdentification of neuropathological and metabolic targets for treatment /$fAngelo Molinaro 210 1$aFirenze :$cFirenze University Press,$d2020. 215 $a1 online resource (116 pages) 225 1 $aPremio tesi di dottorato 311 $a88-5518-083-5 330 $aCreatine (Cr) transporter deficiency (CCDS1) is a very rare and severe condition due to impaired energetic metabolism. In this work we showed for the first time the following facts: this diseases is a progressive neurodegenerative disorder in which a set of maladaptive compensatory mechanisms leads to a progressive damage of brain functions; cell energy metabolism and mitochondria seem strongly involved in the pathogenesis and they could represent useful potential targets for therapeutic interventions; inflammation seems to play an important part in this progressive damage, and this observation can pave the way to treatment strategies; neural circuits disruption involving inhibitory systems could give a huge contribute to many of the clinical aspects observed in patients, as epilepsy and cognitive impairment, since the excitatory/inhibitory balance is fundamental for the normal function of neural circuits. Factors outside the CNS are important in the pathogenesis of at least some aspects of the disorder, since the conditional KO model show difference in the timing of onset of some cognitive defects and in the presence of stereotypies. 410 0$aPremio tesi di dottorato. 517 $aNew insights into creatine transporter deficiency 606 $aNervous system$xDegeneration 615 0$aNervous system$xDegeneration. 676 $a616.8 700 $aMolinaro$b Angelo$01277734 801 0$bNjHacI 801 1$bNjHacl 906 $aBOOK 912 $a9910571727703321 996 $aNew insights into creatine transporter deficiency$93011961 997 $aUNINA