GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
Abstract. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors requ
Gespeichert in:
| Hauptverfasser: | , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
14 June 2018
|
| In: |
Human molecular genetics
Year: 2018, Jahrgang: 27, Heft: 18, Pages: 3218-3232 |
| ISSN: | 1460-2083 |
| DOI: | 10.1093/hmg/ddy225 |
| Online-Zugang: | Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1093/hmg/ddy225 Verlag, lizenzpflichtig, Volltext: https://academic.oup.com/hmg/article/27/18/3218/5037908 |
| Verfasserangaben: | Yasmin Issop, Denisa Hathazi, Muzamil Majid Khan, Rüdiger Rudolf, Joachim Weis, Sally Spendiff, Clarke R. Slater, Andreas Roos and Hanns Lochmüller |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1694538966 | ||
| 003 | DE-627 | ||
| 005 | 20241223012920.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200415s2018 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1093/hmg/ddy225 |2 doi | |
| 035 | |a (DE-627)1694538966 | ||
| 035 | |a (DE-599)KXP1694538966 | ||
| 035 | |a (OCoLC)1341314941 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Issop, Yasmin |e VerfasserIn |0 (DE-588)1208304623 |0 (DE-627)1694540294 |4 aut | |
| 245 | 1 | 0 | |a GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice |c Yasmin Issop, Denisa Hathazi, Muzamil Majid Khan, Rüdiger Rudolf, Joachim Weis, Sally Spendiff, Clarke R. Slater, Andreas Roos and Hanns Lochmüller |
| 264 | 1 | |c 14 June 2018 | |
| 300 | |a 15 | ||
| 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 15.04.2020 | ||
| 520 | |a Abstract. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors requ | ||
| 700 | 1 | |8 1\p |a Hathazi, Denisa |d 1989- |e VerfasserIn |0 (DE-588)117715529X |0 (DE-627)1048594327 |0 (DE-576)517310767 |4 aut | |
| 700 | 1 | |a Khan, Muzamil Majid |e VerfasserIn |4 aut | |
| 700 | 1 | |a Rudolf, Rüdiger |e VerfasserIn |0 (DE-588)1056067489 |0 (DE-627)793904439 |0 (DE-576)412074834 |4 aut | |
| 700 | 1 | |8 2\p |a Weis, Joachim |d 1956- |e VerfasserIn |0 (DE-588)131641972 |0 (DE-627)512038007 |0 (DE-576)166052825 |4 aut | |
| 700 | 1 | |a Spendiff, Sally |e VerfasserIn |4 aut | |
| 700 | 1 | |a Slater, Clarke R. |e VerfasserIn |4 aut | |
| 700 | 1 | |8 3\p |a Roos, Andreas |d 1978- |e VerfasserIn |0 (DE-588)140250808 |0 (DE-627)616963963 |0 (DE-576)316094714 |4 aut | |
| 700 | 1 | |8 4\p |a Lochmüller, Hanns |e VerfasserIn |0 (DE-588)1205393498 |0 (DE-627)1691029475 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Human molecular genetics |d Oxford : Oxford Univ. Press, 1992 |g 27(2018), 18, Seite 3218-3232 |h Online-Ressource |w (DE-627)269532722 |w (DE-600)1474816-2 |w (DE-576)082435243 |x 1460-2083 |7 nnas |a GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice |
| 773 | 1 | 8 | |g volume:27 |g year:2018 |g number:18 |g pages:3218-3232 |g extent:15 |a GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice |
| 856 | 4 | 0 | |u https://doi.org/10.1093/hmg/ddy225 |x Resolving-System |x Verlag |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://academic.oup.com/hmg/article/27/18/3218/5037908 |x Verlag |z lizenzpflichtig |3 Volltext |
| 883 | |8 1\p |a cgwrk |d 20241001 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | ||
| 883 | |8 2\p |a cgwrk |d 20241001 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | ||
| 883 | |8 3\p |a cgwrk |d 20241001 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | ||
| 883 | |8 4\p |a cgwrk |d 20241001 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | ||
| 951 | |a AR | ||
| 992 | |a 20200415 | ||
| 993 | |a Article | ||
| 994 | |a 2018 | ||
| 998 | |g 1056067489 |a Rudolf, Rüdiger |m 1056067489:Rudolf, Rüdiger |d 60000 |e 60000PR1056067489 |k 0/60000/ |p 4 | ||
| 999 | |a KXP-PPN1694538966 |e 3623352705 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"id":{"eki":["1694538966"],"doi":["10.1093/hmg/ddy225"]},"name":{"displayForm":["Yasmin Issop, Denisa Hathazi, Muzamil Majid Khan, Rüdiger Rudolf, Joachim Weis, Sally Spendiff, Clarke R. Slater, Andreas Roos and Hanns Lochmüller"]},"recId":"1694538966","physDesc":[{"extent":"15 S."}],"title":[{"title_sort":"GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice","title":"GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice"}],"note":["Gesehen am 15.04.2020"],"language":["eng"],"type":{"media":"Online-Ressource","bibl":"article-journal"},"relHost":[{"disp":"GFPT1 deficiency in muscle leads to myasthenia and myopathy in miceHuman molecular genetics","physDesc":[{"extent":"Online-Ressource"}],"recId":"269532722","note":["Gesehen am 01.12.2020"],"type":{"media":"Online-Ressource","bibl":"periodical"},"language":["eng"],"title":[{"title_sort":"Human molecular genetics","title":"Human molecular genetics","subtitle":"HMG online"}],"origin":[{"publisherPlace":"Oxford","dateIssuedKey":"1992","dateIssuedDisp":"1992-","publisher":"Oxford Univ. Press"}],"part":{"year":"2018","volume":"27","pages":"3218-3232","extent":"15","text":"27(2018), 18, Seite 3218-3232","issue":"18"},"id":{"zdb":["1474816-2"],"issn":["1460-2083"],"eki":["269532722"]},"pubHistory":["1.1992 -"],"titleAlt":[{"title":"HMG online"}]}],"person":[{"family":"Issop","role":"aut","given":"Yasmin","display":"Issop, Yasmin"},{"display":"Hathazi, Denisa","family":"Hathazi","given":"Denisa","role":"aut"},{"display":"Khan, Muzamil Majid","role":"aut","given":"Muzamil Majid","family":"Khan"},{"display":"Rudolf, Rüdiger","given":"Rüdiger","role":"aut","family":"Rudolf"},{"role":"aut","given":"Joachim","family":"Weis","display":"Weis, Joachim"},{"family":"Spendiff","role":"aut","given":"Sally","display":"Spendiff, Sally"},{"role":"aut","given":"Clarke R.","family":"Slater","display":"Slater, Clarke R."},{"display":"Roos, Andreas","family":"Roos","given":"Andreas","role":"aut"},{"display":"Lochmüller, Hanns","given":"Hanns","role":"aut","family":"Lochmüller"}],"origin":[{"dateIssuedKey":"2018","dateIssuedDisp":"14 June 2018"}]} | ||
| SRT | |a ISSOPYASMIGFPT1DEFIC1420 | ||