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Details on Person Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
| Class:Id | LiteratureReference:9916618 |
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| _displayName | Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement |
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| _timestamp | 2024-07-25 19:35:37 |
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| author | [Person:5696029] Haack, Tobias B
[Person:9916566] Jackson, Christopher B
[Person:8855041] Murayama, Kei
[Person:9035245] Kremer, Laura S
[Person:9916609] Schaller, André
[Person:9916577] Kotzaeridou, Urania
[Person:9916594] de Vries, Maaike C
[Person:9916570] Schottmann, Gudrun
[Person:6787409] Santra, Saikat
[Person:9916582] Büchner, Boriana
[Person:5696071] Wieland, Thomas
[Person:5229124] Graf, Elisabeth
[Person:5638234] Freisinger, Peter
[Person:9916615] Eggimann, Sandra
[Person:8855048] Ohtake, Akira
[Person:3222152] Okazaki, Yasushi
[Person:8855049] Kohda, Masakazu
[Person:8855038] Kishita, Yoshihito
[Person:5607994] Tokuzawa, Yoshimi
[Person:9035198] Sauer, Sascha
[Person:9916612] Memari, Yasin
[Person:9916586] Kolb-Kokocinski, Anja
[Person:8955069] Durbin, Richard
[Person:9916633] Hasselmann, Oswald
[Person:9916600] Cremer, Kirsten
[Person:9916603] Albrecht, Beate
[Person:9651028] Wieczorek, Dagmar
[Person:5678433] Engels, Hartmut
[Person:189110] Hahn, D
[Person:9916607] Zink, Alexander M
[Person:9856319] Alston, Charlotte L
[Person:5657578] Taylor, Robert W
[Person:4549331] Rodenburg, Richard J
[Person:9916622] Trollmann, Regina
[Person:69965] Sperl, W
[Person:159842] Strom, TM
[Person:200236] Hoffmann, GF
[Person:5696075] Mayr, Johannes A
[Person:196863] Meitinger, T
[Person:9916560] Bolognini, Ramona
[Person:164795] Schuelke, Markus
[Person:9916554] Nuoffer, Jean-Marc
[Person:3296238] Kölker, Stefan
[Person:196832] Prokisch, H
[Person:5657586] Klopstock, Thomas |
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| created | [InstanceEdit:9916623] Rothfels, Karen, 2024-07-25 |
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| journal | Ann Clin Transl Neurol |
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| pages | 492-509 |
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| pubMedIdentifier | 26000322 |
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| title | Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement |
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| volume | 2 |
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| year | 2015 |
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| (literatureReference) | [FailedReaction:9916717] ECHS1 mutants don't synthesize beta-hydroxyisobutyryl-CoA [Homo sapiens]
[Pathway:9916720] Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 [Homo sapiens]
[EntityWithAccessionedSequence:9916659] I66T ECHS1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9916665] A132T ECHS1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9916666] Q159R ECHS1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9916667] E77Q ECHS1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9916672] C225R ECHS1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9916674] D150G ECHS1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9916676] R54H ECHS1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9916680] K273E ECHS1 [mitochondrial matrix] [Homo sapiens] |
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No pathways have been reviewed or authored by Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement (9916618)
