Query author contributions in Reactome

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Details on Person Zschocke, J

Class:Id	Person:69962
_displayName	Zschocke, J
_timestamp	0000-00-00 00:00:00
firstname	Johannes
initial	J
surname	Zschocke
(author)	[LiteratureReference:70832] 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency Is caused by mutations in the HADH2 gene [LiteratureReference:200268] Genetic basis of mitochondrial HMG-CoA synthase deficiency [LiteratureReference:6793615] Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation [LiteratureReference:9865562] A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia [LiteratureReference:9914296] Mutations in the AUH gene cause 3-methylglutaconic aciduria type I [LiteratureReference:9914351] Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism [LiteratureReference:9941167] Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome
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No pathways have been reviewed or authored by Zschocke, J (69962)