New insights into creatine transporter deficiency : : Identification of neuropathological and metabolic targets for treatment / / Angelo Molinaro.
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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Place / Publishing House: | Firenze, Italy : : Firenze University Press,, 2020. |
Year of Publication: | 2020 |
Language: | English |
Physical Description: | 1 online resource (110 pages) :; illustrations |
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Molinaro, Angelo, author. New insights into creatine transporter deficiency : Identification of neuropathological and metabolic targets for treatment / Angelo Molinaro. New insights into creatine transporter deficiency Firenze, Italy : Firenze University Press, 2020. 1 online resource (110 pages) : illustrations text txt rdacontent computer c rdamedia online resource cr rdacarrier Description based on publisher supplied metadata and other sources. 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. Neurodegenerative diseases. 88-5518-082-7 |
language |
English |
format |
eBook |
author |
Molinaro, Angelo, |
spellingShingle |
Molinaro, Angelo, New insights into creatine transporter deficiency : Identification of neuropathological and metabolic targets for treatment / |
author_facet |
Molinaro, Angelo, |
author_variant |
a m am |
author_role |
VerfasserIn |
author_sort |
Molinaro, Angelo, |
title |
New insights into creatine transporter deficiency : Identification of neuropathological and metabolic targets for treatment / |
title_sub |
Identification of neuropathological and metabolic targets for treatment / |
title_full |
New insights into creatine transporter deficiency : Identification of neuropathological and metabolic targets for treatment / Angelo Molinaro. |
title_fullStr |
New insights into creatine transporter deficiency : Identification of neuropathological and metabolic targets for treatment / Angelo Molinaro. |
title_full_unstemmed |
New insights into creatine transporter deficiency : Identification of neuropathological and metabolic targets for treatment / Angelo Molinaro. |
title_auth |
New insights into creatine transporter deficiency : Identification of neuropathological and metabolic targets for treatment / |
title_alt |
New insights into creatine transporter deficiency |
title_new |
New insights into creatine transporter deficiency : |
title_sort |
new insights into creatine transporter deficiency : identification of neuropathological and metabolic targets for treatment / |
publisher |
Firenze University Press, |
publishDate |
2020 |
physical |
1 online resource (110 pages) : illustrations |
isbn |
88-5518-082-7 |
callnumber-first |
R - Medicine |
callnumber-subject |
RC - Internal Medicine |
callnumber-label |
RC522 |
callnumber-sort |
RC 3522 M655 42020 |
illustrated |
Illustrated |
dewey-hundreds |
600 - Technology |
dewey-tens |
610 - Medicine & health |
dewey-ones |
616 - Diseases |
dewey-full |
616 |
dewey-sort |
3616 |
dewey-raw |
616 |
dewey-search |
616 |
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(CKB)5340000000066021 (NjHacI)995340000000066021 (EXLCZ)995340000000066021 |
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New insights into creatine transporter deficiency : Identification of neuropathological and metabolic targets for treatment / |
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