2004
MitoP2, an integrated database on mitochondrial proteins in yeast and man
Andreoli C, Prokisch H, Hörtnagel K, Mueller JC, Münsterkötter M, Scharfe C, Meitinger T. MitoP2, an integrated database on mitochondrial proteins in yeast and man. Nucleic Acids Research 2004, 32: d459-d462. PMID: 14681457, PMCID: PMC308871, DOI: 10.1093/nar/gkh137.Peer-Reviewed Original ResearchConceptsMitochondrial proteinsProtein-protein interactionsMitochondrial proteomeHuman mitochondriopathiesMutant screeningHuman proteinsProteome mappingExpression profilingGenetic characterizationYeastProteinComputational predictionsSearch toolsMitoP2ProteomeReference setComprehensive listProfilingSequenceMitochondriopathy
2000
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
Pusch C, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi F, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nature Genetics 2000, 26: 324-327. PMID: 11062472, DOI: 10.1038/81627.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid MotifsAmino Acid SequenceBrainChromosome MappingDNA Mutational AnalysisDNA, ComplementaryElectroretinographyEye ProteinsFemaleGene Expression ProfilingGenesGenetic HeterogeneityGenetic MarkersGlycosylphosphatidylinositolsHumansKidneyLeucineMaleModels, MolecularMolecular Sequence DataMultigene FamilyMuscle ProteinsMusclesNerve Tissue ProteinsNight BlindnessOrgan SpecificityPedigreeProtein ConformationProteoglycansRepetitive Sequences, Amino AcidRetinaReverse Transcriptase Polymerase Chain ReactionSequence DeletionSequence Homology, Amino AcidTestisX ChromosomeConceptsLeucine-rich repeatsLeucine-rich repeat proteinFuture functional analysisProtein-protein interactionsCell-cell contactProximal short armCongenital stationary night blindnessGenetic mappingNew genesX chromosome2Repeat proteinsExtracellular proteinsLinkage intervalFunctional analysisStationary night blindnessDifferent lociShort armCell adhesionAmino acidsGenesCSNB1 locusProteinDifferent mutationsLociMutation analysis