2021
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
Moss T, May M, Flanagan-Steet H, Caylor R, Jiang YH, McDonald M, Friez M, McConkie-Rosell A, Steet R. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant. Molecular Case Studies 2021, 7: a006081. PMID: 34117073, PMCID: PMC8208043, DOI: 10.1101/mcs.a006081.Peer-Reviewed Original ResearchConceptsMitochondrial flavin adenine dinucleotideCaspase-independent typeRespiratory complex assemblyFunctional studiesApoptosis inducer staurosporineGalactose-containing mediumNicotinamide adenine dinucleotide (phosphate) oxidoreductaseApoptotic stimuliSteady-state levelsComplex assemblyGene productsReactive oxygen speciesMitochondrial deficiencyTissue-specific effectsNuclear condensationFlavin adenine dinucleotideReduced abundanceMitochondrial complexesComplex IPyruvate dehydrogenaseMitochondrial dysfunctionPatient cellsExome sequencingOxygen speciesElevated sensitivity
2013
Modeling Autism by SHANK Gene Mutations in Mice
Jiang YH, Ehlers MD. Modeling Autism by SHANK Gene Mutations in Mice. Neuron 2013, 78: 8-27. PMID: 23583105, PMCID: PMC3659167, DOI: 10.1016/j.neuron.2013.03.016.Peer-Reviewed Original ResearchConceptsSHANK mutationsRecent human genetic studiesSHANK family genesHuman genetic studiesPostsynaptic densityPathophysiology of ASDProtein complexesConserved featuresFamily genesFamily proteinsGene productsDivergent phenotypesSame geneExcitatory glutamatergic synapsesMolecular diversityHuman autism spectrum disorderMouse mutantsMolecular geneticsGenetic studiesMouse phenotypeSynaptic dysfunctionIdiopathic autism spectrum disorderSuch mutationsCausative genesGenes
1997
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
Matsuura T, Sutcliffe J, Fang P, Galjaard R, Jiang Y, Benton C, Rommens J, Beaudet A. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genetics 1997, 15: 74-77. PMID: 8988172, DOI: 10.1038/ng0197-74.Peer-Reviewed Original ResearchConceptsGene productsAngelman syndromeNovo truncating mutationsUbiquitin protein ligase geneUbiquitin-dependent proteolytic pathwayE6-AP ubiquitin-protein ligaseHuman genetic disordersUbiquitin-protein ligaseUBE3A geneTruncating mutationsEvidence of expressionUnlikely candidate geneGenetic disordersLigase geneParental allelesAS genesHuman chromosomesPaternal uniparental disomyCandidate genesDe novo truncating mutationsProteolytic pathwayNovo nonsense mutationGenesIntragenic mutationsMolecular defects