Query author contributions in Reactome

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Details on Person Zeviani, Massimo

Class:Id	Person:5432482
_displayName	Zeviani, Massimo
_timestamp	2014-05-11 03:22:37
created	[InstanceEdit:5432556] May, Bruce, 2014-05-11
firstname	Massimo
initial	M
surname	Zeviani
(author)	[LiteratureReference:5432433] The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex [LiteratureReference:5696063] Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome [LiteratureReference:6782365] Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) [LiteratureReference:6785498] Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects [LiteratureReference:6787376] MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast [LiteratureReference:6787458] Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis [LiteratureReference:8986160] Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration [LiteratureReference:9837211] FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency [LiteratureReference:9854991] Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB [LiteratureReference:9865591] MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase List all 21 refering instances
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No pathways have been reviewed or authored by Zeviani, Massimo (5432482)