ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae
Citrullinemia type 1 (CTLN1) is a rare autosomal recessive urea cycle disorder caused by deficiency of the cytosolic enzyme argininosuccinate synthetase 1 (ASS1) due to pathogenic variants in the ASS1 gene located on chromosome 9q34.11. Even though hyperammenomia is considered the major pathomechani...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
January 2024
|
| In: |
Molecular genetics and metabolism
Year: 2024, Volume: 141, Issue: 1, Pages: 1-11 |
| ISSN: | 1096-7206 |
| DOI: | 10.1016/j.ymgme.2023.108097 |
| Online Access: | Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.ymgme.2023.108097 Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S1096719223007278 
|
| Author Notes: | Marie J. Seidl, Svenja Scharre, Roland Posset, Ann-Catrin Druck, Friederike Epp, Jürgen G. Okun, Bianca Dimitrov, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1882592824 | ||
| 003 | DE-627 | ||
| 005 | 20240703150836.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240306s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ymgme.2023.108097 |2 doi | |
| 035 | |a (DE-627)1882592824 | ||
| 035 | |a (DE-599)KXP1882592824 | ||
| 035 | |a (OCoLC)1443644723 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Seidl, Marie |e VerfasserIn |0 (DE-588)1322649928 |0 (DE-627)1882604083 |4 aut | |
| 245 | 1 | 0 | |a ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae |c Marie J. Seidl, Svenja Scharre, Roland Posset, Ann-Catrin Druck, Friederike Epp, Jürgen G. Okun, Bianca Dimitrov, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka |
| 264 | 1 | |c January 2024 | |
| 300 | |b Illustrationen | ||
| 300 | |a 11 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Online verfügbar: 28. November 2023, Artikelversion: 18. Dezember 2023 | ||
| 500 | |a Gesehen am 06.03.2024 | ||
| 520 | |a Citrullinemia type 1 (CTLN1) is a rare autosomal recessive urea cycle disorder caused by deficiency of the cytosolic enzyme argininosuccinate synthetase 1 (ASS1) due to pathogenic variants in the ASS1 gene located on chromosome 9q34.11. Even though hyperammenomia is considered the major pathomechanistic factor for neurological impairment and cognitive dysfunction, a relevant subset of individuals presents with a neurodegenerative course in the absence of hyperammonemic decompensations. Here we show, that ASS1 deficiency induced by antisense-mediated knockdown of the zebrafish ASS1 homologue is associated with defective neuronal differentiation ultimately causing neuronal cell loss and consecutively decreased brain size in zebrafish larvae in vivo. Whereas ASS1-deficient zebrafish larvae are characterized by markedly elevated concentrations of citrulline - the biochemical hallmark of CTLN1, accumulation of L-citrulline, hyperammonemia or therewith associated secondary metabolic alterations did not account for the observed phenotype. Intriguingly, coinjection of the human ASS1 mRNA not only normalized citrulline concentration but also reversed the morphological cerebral phenotype and restored brain size, confirming conserved functional properties of ASS1 across species. The results of the present study imply a novel, potentially non-enzymatic (moonlighting) function of the ASS1 protein in neurodevelopment. | ||
| 650 | 4 | |a ASS1 deficiency | |
| 650 | 4 | |a Citrullinemia type 1 | |
| 650 | 4 | |a Moonlighting function | |
| 650 | 4 | |a Neuronal differentiation | |
| 650 | 4 | |a Urea cycle disorders | |
| 650 | 4 | |a Zebrafish model | |
| 700 | 1 | |a Scharré, Svenja |e VerfasserIn |0 (DE-588)1322650187 |0 (DE-627)1882604911 |4 aut | |
| 700 | 1 | |a Posset, Roland |d 1986- |e VerfasserIn |0 (DE-588)1058087347 |0 (DE-627)796372160 |0 (DE-576)414059034 |4 aut | |
| 700 | 1 | |a Druck, Ann-Catrin |e VerfasserIn |4 aut | |
| 700 | 1 | |a Epp, Friederike |e VerfasserIn |0 (DE-588)1322650551 |0 (DE-627)188260668X |4 aut | |
| 700 | 1 | |a Okun, Jürgen G. |d 1968- |e VerfasserIn |0 (DE-588)121578232 |0 (DE-627)705551415 |0 (DE-576)292781296 |4 aut | |
| 700 | 1 | |a Dimitrov, Bianca |e VerfasserIn |0 (DE-588)1148030352 |0 (DE-627)1007508981 |0 (DE-576)496158856 |4 aut | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e VerfasserIn |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 aut | |
| 700 | 1 | |a Kölker, Stefan |e VerfasserIn |0 (DE-588)1022937758 |0 (DE-627)717335771 |0 (DE-576)366197568 |4 aut | |
| 700 | 1 | |a Zielonka, Matthias |d 1983- |e VerfasserIn |0 (DE-588)1056891297 |0 (DE-627)79418670X |0 (DE-576)412871637 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Molecular genetics and metabolism |d Orlando, Fla. : Academic Press, 1998 |g 141(2024), 1 vom: Jan., Artikel-ID 108097, Seite 1-11 |h Online-Ressource |w (DE-627)268125260 |w (DE-600)1471393-7 |w (DE-576)106869493 |x 1096-7206 |7 nnas |a ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae |
| 773 | 1 | 8 | |g volume:141 |g year:2024 |g number:1 |g month:01 |g elocationid:108097 |g pages:1-11 |g extent:11 |a ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.ymgme.2023.108097 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://www.sciencedirect.com/science/article/pii/S1096719223007278 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20240306 | ||
| 993 | |a Article | ||
| 994 | |a 2024 | ||
| 998 | |g 1056891297 |a Zielonka, Matthias |m 1056891297:Zielonka, Matthias |d 910000 |d 910500 |d 50000 |e 910000PZ1056891297 |e 910500PZ1056891297 |e 50000PZ1056891297 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 10 |y j | ||
| 998 | |g 1022937758 |a Kölker, Stefan |m 1022937758:Kölker, Stefan |d 50000 |d 910000 |d 910500 |e 50000PK1022937758 |e 910000PK1022937758 |e 910500PK1022937758 |k 0/50000/ |k 0/910000/ |k 1/910000/910500/ |p 9 | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |d 910000 |d 910500 |e 910000PH115652868 |e 910500PH115652868 |k 0/910000/ |k 1/910000/910500/ |p 8 | ||
| 998 | |g 1148030352 |a Dimitrov, Bianca |m 1148030352:Dimitrov, Bianca |d 700000 |d 801000 |e 700000PD1148030352 |e 801000PD1148030352 |k 0/700000/ |k 1/700000/801000/ |p 7 | ||
| 998 | |g 121578232 |a Okun, Jürgen G. |m 121578232:Okun, Jürgen G. |d 910000 |d 910500 |d 50000 |e 910000PO121578232 |e 910500PO121578232 |e 50000PO121578232 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 6 | ||
| 998 | |g 1322650551 |a Epp, Friederike |m 1322650551:Epp, Friederike |d 50000 |e 50000PE1322650551 |k 0/50000/ |p 5 | ||
| 998 | |g 1058087347 |a Posset, Roland |m 1058087347:Posset, Roland |d 910000 |d 910500 |e 910000PP1058087347 |e 910500PP1058087347 |k 0/910000/ |k 1/910000/910500/ |p 3 | ||
| 998 | |g 1322650187 |a Scharré, Svenja |m 1322650187:Scharré, Svenja |d 910000 |d 910500 |e 910000PS1322650187 |e 910500PS1322650187 |k 0/910000/ |k 1/910000/910500/ |p 2 | ||
| 998 | |g 1322649928 |a Seidl, Marie |m 1322649928:Seidl, Marie |d 50000 |e 50000PS1322649928 |k 0/50000/ |p 1 |x j | ||
| 999 | |a KXP-PPN1882592824 |e 4495971964 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"person":[{"family":"Seidl","display":"Seidl, Marie","role":"aut","given":"Marie"},{"family":"Scharré","display":"Scharré, Svenja","role":"aut","given":"Svenja"},{"role":"aut","given":"Roland","family":"Posset","display":"Posset, Roland"},{"family":"Druck","display":"Druck, Ann-Catrin","role":"aut","given":"Ann-Catrin"},{"role":"aut","given":"Friederike","family":"Epp","display":"Epp, Friederike"},{"family":"Okun","display":"Okun, Jürgen G.","role":"aut","given":"Jürgen G."},{"display":"Dimitrov, Bianca","family":"Dimitrov","given":"Bianca","role":"aut"},{"role":"aut","given":"Georg F.","family":"Hoffmann","display":"Hoffmann, Georg F."},{"role":"aut","given":"Stefan","family":"Kölker","display":"Kölker, Stefan"},{"given":"Matthias","role":"aut","display":"Zielonka, Matthias","family":"Zielonka"}],"id":{"eki":["1882592824"],"doi":["10.1016/j.ymgme.2023.108097"]},"type":{"bibl":"article-journal","media":"Online-Ressource"},"relHost":[{"disp":"ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvaeMolecular genetics and metabolism","note":["Gesehen am 14.02.20"],"part":{"text":"141(2024), 1 vom: Jan., Artikel-ID 108097, Seite 1-11","year":"2024","volume":"141","extent":"11","issue":"1","pages":"1-11"},"recId":"268125260","language":["eng"],"origin":[{"publisherPlace":"Orlando, Fla.","dateIssuedDisp":"1998-","publisher":"Academic Press","dateIssuedKey":"1998"}],"id":{"zdb":["1471393-7"],"eki":["268125260"],"issn":["1096-7206"]},"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title":"Molecular genetics and metabolism","title_sort":"Molecular genetics and metabolism"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"pubHistory":["63.1998 -"]}],"title":[{"title_sort":"ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae","title":"ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae"}],"physDesc":[{"extent":"11 S.","noteIll":"Illustrationen"}],"recId":"1882592824","language":["eng"],"note":["Online verfügbar: 28. November 2023, Artikelversion: 18. Dezember 2023","Gesehen am 06.03.2024"],"origin":[{"dateIssuedKey":"2024","dateIssuedDisp":"January 2024"}],"name":{"displayForm":["Marie J. Seidl, Svenja Scharre, Roland Posset, Ann-Catrin Druck, Friederike Epp, Jürgen G. Okun, Bianca Dimitrov, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka"]}} | ||
| SRT | |a SEIDLMARIEASS1DEFICI2024 | ||