New insights into creatine transporter deficiency
Creatine (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...
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| Format: | Online |
| Language: | English |
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Firenze University Press
2022
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| Online Access: | ONIX_20220531_9788855180825_913 |
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| author | molinaro, angela |
| author_browse | molinaro, angela |
| author_facet | molinaro, angela |
| author_sort | molinaro, angela |
| collection | Directory of Open Access Books |
| description | Creatine (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. |
| format | Online |
| id | doab-20.500.12854ir-82538 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | Firenze University Press |
| publisherStr | Firenze University Press |
| record_format | ojs |
| spelling | doab-20.500.12854ir-825382025-03-15T12:59:36Z New insights into creatine transporter deficiency molinaro, angela creatine transporter brain Creatine (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. 2022-06-02T04:12:40Z 2022-06-02T04:12:40Z 2022-05-31T10:35:51Z 2020 book ONIX_20220531_9788855180825_913 OCN: 1229754390 2612-8020 https://library.oapen.org/handle/20.500.12657/55629 9788855180825 9788855180818 9788855180832 https://directory.doabooks.org/handle/20.500.12854/82538 eng Premio Tesi di Dottorato open access image/jpeg image/jpeg image/jpeg Attribution 4.0 International Attribution 4.0 International Attribution 4.0 International https://library.oapen.org/bitstream/20.500.12657/55629/1/9788855180825.pdf https://library.oapen.org/bitstream/20.500.12657/55629/1/9788855180825.pdf https://library.oapen.org/bitstream/20.500.12657/55629/1/9788855180825.pdf Firenze University Press 10.36253/978-88-5518-082-5 10.36253/978-88-5518-082-5 2ec4474d-93b1-4cfa-b313-9c6019b51b1a 9788855180825 9788855180818 9788855180832 116 Florence open access |
| spellingShingle | creatine transporter brain molinaro, angela New insights into creatine transporter deficiency |
| title | New insights into creatine transporter deficiency |
| title_full | New insights into creatine transporter deficiency |
| title_fullStr | New insights into creatine transporter deficiency |
| title_full_unstemmed | New insights into creatine transporter deficiency |
| title_short | New insights into creatine transporter deficiency |
| title_sort | new insights into creatine transporter deficiency |
| topic | creatine transporter brain |
| topic_facet | creatine transporter brain |
| url | ONIX_20220531_9788855180825_913 |
| work_keys_str_mv | AT molinaroangela newinsightsintocreatinetransporterdeficiency |