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:
Bibliographische Detailangaben
Hauptverfasser: Issop, Yasmin (VerfasserIn) , Hathazi, Denisa (VerfasserIn) , Khan, Muzamil Majid (VerfasserIn) , Rudolf, Rüdiger (VerfasserIn) , Weis, Joachim (VerfasserIn) , Spendiff, Sally (VerfasserIn) , Slater, Clarke R. (VerfasserIn) , Roos, Andreas (VerfasserIn) , Lochmüller, Hanns (VerfasserIn)
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
Volltext
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