Query author contributions in Reactome

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Details on Person Prokisch, H

Class:Id	Person:196832
_displayName	Prokisch, H
_timestamp	2007-07-09 22:03:54
created	[InstanceEdit:196747] Jassal, B, 2007-04-24 08:38:46
firstname	Holger
initial	H
modified	[InstanceEdit:199189] D'Eustachio, P, 2007-07-09 22:03:12
surname	Prokisch
(author)	[LiteratureReference:196762] An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria [LiteratureReference:1252314] Reconstituted TOM core complex and Tim9/Tim10 complex of mitochondria are sufficient for translocation of the ADP/ATP carrier across membranes [LiteratureReference:1252376] Tim50, a novel component of the TIM23 preprotein translocase of mitochondria [LiteratureReference:2162291] COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness [LiteratureReference:5696063] Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome [LiteratureReference:6786797] ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy [LiteratureReference:6787376] MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast [LiteratureReference:6787419] MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention [LiteratureReference:6787458] Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis [LiteratureReference:9035243] Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration List all 12 refering instances
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No pathways have been reviewed or authored by Prokisch, H (196832)