Query author contributions in Reactome

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Details on Person Smeitink, JA

Class:Id	Person:71530
_displayName	Smeitink, JA
_timestamp	2008-12-23 21:44:18
firstname	Jan A M
initial	JA
modified	[InstanceEdit:389226] D'Eustachio, P, 2008-12-23 21:44:12
surname	Smeitink
(author)	[LiteratureReference:71525] X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit [LiteratureReference:164765] cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: [LiteratureReference:389227] Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation [LiteratureReference:5621500] OXPHOS mutations and neurodegeneration [LiteratureReference:5689021] Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly [LiteratureReference:9756892] Statin Lactonization by Uridine 5'-Diphospho-glucuronosyltransferases (UGTs) [LiteratureReference:9864420] Mitochondrial ATP synthase: architecture, function and pathology [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
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No pathways have been reviewed or authored by Smeitink, JA (71530)