Reactome | Prokisch, H

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Prokisch, H Show undefined attributes

created	[InstanceEdit:196747] Jassal, B, 2007-04-24 08:38:46
dbId	196832
displayName	Prokisch, H
firstname	Holger
initial	H
modified	[InstanceEdit:199189] D'Eustachio, P, 2007-07-09 22:03:12
publications	[LiteratureReference:196762] An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria [LiteratureReference:1252376] Tim50, a novel component of the TIM23 preprotein translocase of 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:6787458] Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis [LiteratureReference:9906775] Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency [LiteratureReference:6787419] MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention [LiteratureReference:6787376] MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast [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:2162291] COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness [LiteratureReference:9916618] Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
schemaClass	Person
surname	Prokisch

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