Reactome | Smeitink, JA

Schema > Person > Entries

dbId	71530
displayName	Smeitink, JA
firstname	Jan A M
initial	JA
modified	[InstanceEdit:389226] D'Eustachio, P, 2008-12-23 21:44:12
publications	[LiteratureReference:9864420] Mitochondrial ATP synthase: architecture, function and pathology [LiteratureReference:5621500] OXPHOS mutations and neurodegeneration [LiteratureReference:9756892] Statin Lactonization by Uridine 5'-Diphospho-glucuronosyltransferases (UGTs) [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: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
schemaClass	Person
surname	Smeitink

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