HLA-E-expressing pluripotent stem cells escape allogeneic responses and lysis by NK cells

Germán G. Gornalusse, Roli K. Hirata, Sarah E. Funk, +9

Nature Biotechnology

Induced Pluripotent Stem CellCell TherapyMedicineStem Cell TransplantationImmunology +7

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Edgar A. Otto, Toby W. Hurd, Rannar Airik, +52

Nature Genetics

Ocular DiseaseRetinaOphthalmologyMedicinePathology +4

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Carrie M Louie, Gianluca Caridi, Vanda S. Lopes, +22

Nature Genetics

BiologyOcular DiseaseRetinaPhotoreceptor CellOphthalmology +7

Elevated PGC-1α Activity Sustains Mitochondrial Biogenesis and Muscle Function without Extending Survival in a Mouse Model of Inherited ALS

Sandrine Da Cruz, Philippe A. Parone, Vanda S. Lopes, +10

Cell Metabolism

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisMuscle FunctionMitochondrial BiogenesisMitochondrial Function +9

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus

Vanda S. Lopes, Sanford L. Boye, Carrie M Louie, +6

Gene Therapy

Adeno-associated VirusGene TherapiesRetinal Gene TherapyRetinaOcular Disease +8

Melanosome Maturation Defect in Rab38-deficient Retinal Pigment Epithelium Results in Instability of Immature Melanosomes during Transient Melanogenesis

Vanda S. Lopes, Christina Wasmeier, Miguel C. Seabra, +1

Molecular Biology of the Cell

Melanosome Maturation DefectPhotoreceptor CellDevelopmental BiologyImmature MelanosomesOphthalmology +12

The Ternary Rab27a–Myrip–Myosin VIIa Complex Regulates Melanosome Motility in the Retinal Pigment Epithelium

Vanda S. Lopes, José S. Ramalho, Dylan M. Owen, +2

Traffic

Molecular RegulationMolecular BiologyCytoskeletonMelanosome DynamicsOptogenetics +16

Essential Role of ELOVL4 Protein in Very Long Chain Fatty Acid Synthesis and Retinal Function

Richard Harkewicz, Hongjun Du, Zongzhong Tong, +14

Journal of Biological Chemistry

Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis

Mei Jiang, Julián Esteve-Rudd, Vanda S. Lopes, +4

The Journal of Cell Biology

Amd-like PathogenesisImmunologyMolecular BiologyCytoskeletonMicrotubule Motors +16

The Contribution of Melanoregulin to Microtubule-Associated Protein 1 Light Chain 3 (LC3) Associated Phagocytosis in Retinal Pigment Epithelium

Laura Frost, Vanda S. Lopes, Alvina Bragin, +6

Molecular Neurobiology

Protein FunctionSignal TransductionRetinaOphthalmologyPhotoreceptor Cell +9