The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A. Sayer, Edgar A. Otto, John F. O’Toole, +39

Nature Genetics

Transcription Factor Atf4Transcriptional RegulationDevelopmental BiologyMendelian DisorderJoubert Syndrome +8

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Edgar A. Otto, Bart Loeys, Hemant Khanna, +30

Nature Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsPathology +4

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Bo Chang, Hemant Khanna, Norman L. Hawes, +17

Human Molecular Genetics

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

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa, +31

Nature Genetics

Ocular DiseaseCommon AlleleRetinaOphthalmologyGenetics +5

CP110 Suppresses Primary Cilia Formation through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease

William Y.W. Tsang, Carine Bossard, Hemant Khanna, +4

Developmental Cell

Signal TransductionMolecular ResearchMolecular RegulationMedicineNatural Sciences +9

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

William A. Beltran, Artur V. Cideciyan, Alfred S. Lewin, +15

Proceedings of the National Academy of Sciences

Gene TherapiesOcular DiseaseRetinaPhotoreceptor CellOphthalmology +11

RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins

Hemant Khanna, Toby W. Hurd, Concepción Lillo, +8

Journal of Biological Chemistry

Photoreceptor CellSignal TransductionRetinaProtein FunctionRetinitis Pigmentosa +12

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

Dyke P. McEwen, Robert K. Koenekoop, Hemant Khanna, +4

Proceedings of the National Academy of Sciences

GeneticsNeurotransmitterMolecular BiologyNeurotransmissionCellular Neurobiology +18

Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL

Edwin C. Oh, Naheed W. Khan, Elena Novelli, +3

Proceedings of the National Academy of Sciences

Molecular BiologySynaptic SignalingTranscriptional RegulationCone PrecursorsRetina +16