Succinic semialdehyde dehydrogenase deficiency: an update
Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter γ-amino butyric acid (GABA). The disease is caused by impaired activity of the mitochondrial enzyme succinic semialdehyde dehydrogenase. SSADH-D...
Gespeichert in:
| Hauptverfasser: | , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
19 February 2020
|
| In: |
Cells
Year: 2020, Jahrgang: 9, Heft: 2 |
| ISSN: | 2073-4409 |
| DOI: | 10.3390/cells9020477 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3390/cells9020477 Verlag, lizenzpflichtig, Volltext: https://www.mdpi.com/2073-4409/9/2/477 
|
| Verfasserangaben: | Miroslava Didiasova, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, Thomas Opladen and Ritva Tikkanen |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1696149576 | ||
| 003 | DE-627 | ||
| 005 | 20230426182217.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200427s2020 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.3390/cells9020477 |2 doi | |
| 035 | |a (DE-627)1696149576 | ||
| 035 | |a (DE-599)KXP1696149576 | ||
| 035 | |a (OCoLC)1341316800 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Didiášová, Miroslava |e VerfasserIn |0 (DE-588)1078045151 |0 (DE-627)837982200 |0 (DE-576)448890186 |4 aut | |
| 245 | 1 | 0 | |a Succinic semialdehyde dehydrogenase deficiency |b an update |c Miroslava Didiasova, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, Thomas Opladen and Ritva Tikkanen |
| 264 | 1 | |c 19 February 2020 | |
| 300 | |a 26 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 27.04.2020 | ||
| 520 | |a Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter γ-amino butyric acid (GABA). The disease is caused by impaired activity of the mitochondrial enzyme succinic semialdehyde dehydrogenase. SSADH-D manifests as varying degrees of mental retardation, autism, ataxia, and epileptic seizures, but the clinical picture is highly heterogeneous. So far, there is no approved curative therapy for this disease. In this review, we briefly summarize the molecular genetics of SSADH-D, the past and ongoing clinical trials, and the emerging features of the molecular pathogenesis, including redox imbalance and mitochondrial dysfunction. The main aim of this review is to discuss the potential of further therapy approaches that have so far not been tested in SSADH-D, such as pharmacological chaperones, read-through drugs, and gene therapy. Special attention will also be paid to elucidating the role of patient advocacy organizations in facilitating research and in the communication between researchers and patients. | ||
| 650 | 4 | |a autophagy | |
| 650 | 4 | |a clinical trials | |
| 650 | 4 | |a enzyme replacement therapy | |
| 650 | 4 | |a gamma-amino butyric acid | |
| 650 | 4 | |a organic acidurias | |
| 650 | 4 | |a pharmacological chaperones | |
| 650 | 4 | |a succinic semialdehyde dehydrogenase deficiency | |
| 700 | 1 | |a Brennenstuhl, Heiko |d 1987- |e VerfasserIn |0 (DE-588)1105686965 |0 (DE-627)862755344 |0 (DE-576)473681382 |4 aut | |
| 700 | 1 | |a Jung-Klawitter, Sabine |d 1979- |e VerfasserIn |0 (DE-588)133247821 |0 (DE-627)539315338 |0 (DE-576)299723895 |4 aut | |
| 700 | 1 | |a Opladen, Thomas |d 1974- |e VerfasserIn |0 (DE-588)124489656 |0 (DE-627)642820481 |0 (DE-576)335321291 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Cells |d Basel : MDPI, 2012 |g 9(2020,2) Artikel-Nummer 477, 26 Seiten |h Online-Ressource |w (DE-627)718622081 |w (DE-600)2661518-6 |w (DE-576)365412112 |x 2073-4409 |7 nnas |a Succinic semialdehyde dehydrogenase deficiency an update |
| 773 | 1 | 8 | |g volume:9 |g year:2020 |g number:2 |g extent:26 |a Succinic semialdehyde dehydrogenase deficiency an update |
| 856 | 4 | 0 | |u https://doi.org/10.3390/cells9020477 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.mdpi.com/2073-4409/9/2/477 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20200427 | ||
| 993 | |a Article | ||
| 994 | |a 2020 | ||
| 998 | |g 124489656 |a Opladen, Thomas |m 124489656:Opladen, Thomas |d 910000 |d 910500 |e 910000PO124489656 |e 910500PO124489656 |k 0/910000/ |k 1/910000/910500/ |p 6 | ||
| 998 | |g 133247821 |a Jung-Klawitter, Sabine |m 133247821:Jung-Klawitter, Sabine |d 910000 |d 910500 |e 910000PJ133247821 |e 910500PJ133247821 |k 0/910000/ |k 1/910000/910500/ |p 4 | ||
| 998 | |g 1105686965 |a Brennenstuhl, Heiko |m 1105686965:Brennenstuhl, Heiko |d 910000 |d 911500 |e 910000PB1105686965 |e 911500PB1105686965 |k 0/910000/ |k 1/910000/911500/ |p 3 | ||
| 999 | |a KXP-PPN1696149576 |e 3636963597 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"title":[{"title_sort":"Succinic semialdehyde dehydrogenase deficiency","title":"Succinic semialdehyde dehydrogenase deficiency","subtitle":"an update"}],"person":[{"display":"Didiášová, Miroslava","role":"aut","given":"Miroslava","family":"Didiášová"},{"display":"Brennenstuhl, Heiko","family":"Brennenstuhl","role":"aut","given":"Heiko"},{"family":"Jung-Klawitter","role":"aut","given":"Sabine","display":"Jung-Klawitter, Sabine"},{"family":"Opladen","role":"aut","given":"Thomas","display":"Opladen, Thomas"}],"physDesc":[{"extent":"26 S."}],"language":["eng"],"type":{"media":"Online-Ressource","bibl":"article-journal"},"origin":[{"dateIssuedDisp":"19 February 2020","dateIssuedKey":"2020"}],"id":{"eki":["1696149576"],"doi":["10.3390/cells9020477"]},"recId":"1696149576","name":{"displayForm":["Miroslava Didiasova, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, Thomas Opladen and Ritva Tikkanen"]},"note":["Gesehen am 27.04.2020"],"relHost":[{"recId":"718622081","disp":"Succinic semialdehyde dehydrogenase deficiency an updateCells","id":{"eki":["718622081"],"zdb":["2661518-6"],"issn":["2073-4409"]},"origin":[{"dateIssuedDisp":"2012-","publisher":"MDPI","dateIssuedKey":"2012","publisherPlace":"Basel"}],"part":{"issue":"2","year":"2020","extent":"26","text":"9(2020,2) Artikel-Nummer 477, 26 Seiten","volume":"9"},"type":{"media":"Online-Ressource","bibl":"periodical"},"note":["Gesehen am 09.05.12"],"pubHistory":["1.2012 -"],"language":["eng"],"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title":"Cells","subtitle":"open access journal","title_sort":"Cells"}]}]} | ||
| SRT | |a DIDIASOVAMSUCCINICSE1920 | ||