2024
Vascular endothelial cells derived from transgene-free pig induced pluripotent stem cells for vascular tissue engineering
Batty L, Park J, Qin L, Riaz M, Lin Y, Xu Z, Gao X, Li X, Lopez C, Zhang W, Hoareau M, Fallon M, Huang Y, Luo H, Luo J, Ménoret S, Li P, Jiang Z, Smith P, Sachs D, Tellides G, Anegon I, Pober J, Liu P, Qyang Y. Vascular endothelial cells derived from transgene-free pig induced pluripotent stem cells for vascular tissue engineering. Acta Biomaterialia 2024, 193: 171-184. PMID: 39681154, DOI: 10.1016/j.actbio.2024.12.033.Peer-Reviewed Original ResearchThis study created transgene-free pig induced pluripotent stem cells for engineered blood vessels that prevent clots, opening new possibilities for modeling improved cardiovascular treatments.Rare genetic variation in fibronectin 1 (FN1) protects against APOE ɛ4 in Alzheimer’s Disease
Bhattarai P, Gunasekaran T, Uzrek B, Reyes‐Dumeyer D, Jülich D, Lee A, Yilmaz E, Tayran H, Lantigua R, Medrano M, Mejia D, Recio P, Flaherty D, Dalgard C, Nuriel T, Ertekin‐Taner N, Dickson D, Teich A, Holley S, Mayeux R, Kizil C, Vardarajan B. Rare genetic variation in fibronectin 1 (FN1) protects against APOE ɛ4 in Alzheimer’s Disease. Alzheimer's & Dementia 2024, 20: e089111. PMCID: PMC11710415, DOI: 10.1002/alz.089111.Peer-Reviewed Original ResearchWhole-genome sequencingLoss-of-functionIn vivo functional studiesFibronectin 1Genetic variationAlzheimer's diseaseFunctional studiesWhole-genome sequence analysisTarget genesRare genetic variationLoss-of-function mutationsPotential gene variantsZebrafish modelGenome sequenceProtective variantsAPOE variantsGenetic variantsECM proteinsZebrafish AD modelBioinformatics analysisAD pathologyPotential therapeutic interventional targetsPathway analysisPostmortem human brain tissueRare variantsRare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease
Bhattarai P, Gunasekaran T, Belloy M, Reyes-Dumeyer D, Jülich D, Tayran H, Yilmaz E, Flaherty D, Turgutalp B, Sukumar G, Alba C, McGrath E, Hupalo D, Bacikova D, Le Guen Y, Lantigua R, Medrano M, Rivera D, Recio P, Nuriel T, Ertekin-Taner N, Teich A, Dickson D, Holley S, Greicius M, Dalgard C, Zody M, Mayeux R, Kizil C, Vardarajan B. Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease. Acta Neuropathologica 2024, 147: 70. PMID: 38598053, PMCID: PMC11006751, DOI: 10.1007/s00401-024-02721-1.Peer-Reviewed Original ResearchConceptsLoss-of-functionWhole-genome sequencingFibronectin 1Genetic variationAlzheimer's diseaseAD riskRare coding variantsLoss-of-function variantsRare genetic variationGene Ontology termsFamily based studyIn vivo functional studiesAD-related pathologyAlpha 2 chainOntology termsPresence of cellular mechanismsProtective variantsECM proteinsAD pathologyPathway analysisFunctional studiesUnaffected carriersZebrafish modelAPOEe4 alleleProtein levels
2013
Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations
Tzoulis C, Tran G, Schwarzlmüller T, Specht K, Haugarvoll K, Balafkan N, Lilleng P, Miletic H, Biermann M, Bindoff L. Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. Brain 2013, 136: 2393-2404. PMID: 23625061, DOI: 10.1093/brain/awt103.Peer-Reviewed Original ResearchConceptsMitochondrial DNA abnormalitiesPolymerase gamma-encephalopathyCatalytic subunit of polymerase gammaMitochondrial diseaseCopy number of mitochondrial DNAMitochondrial DNA homeostasisDNA abnormalitiesMitochondrial quality controlPolymerase gamma mutationDopamine transporter imagingComplex I deficiencyLevels of deletionIn vivo functional studiesPositron emission tomographyPathogenesis of neurodegenerationMitochondrial DNADNA homeostasisSubstantia nigraPolymerase gammaCatalytic subunitNeurons of patientsRespiratory chainCopy numberClinical parkinsonismGamma mutations
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