Uwe Wolfrum B

Full-length Cryptochrome 1 in the outer segments of the retinal blue cone photoreceptors in humans and great apes suggests a role beyond transcriptional repression

The paper detects full-length CRY1 protein in blue cone photoreceptors of human and great ape retinas, suggesting non-clock functions and potential isoform diversity.

The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to primary cilia

This study identifies the TRiC/CCT-BBS chaperonin co-complex as essential for ADGRV1 localization to primary cilia and shows its role in ciliogenesis and disease.

The adhesion GPCR ADGRV1 controls glutamate homeostasis in hippocampal astrocytes supporting neuron development: First insights into to pathophysiology of ADGRV1-associated epilepsy

This study identifies ADGRV1's role in astrocyte glutamate homeostasis and neuron development, linking its deficiency to epilepsy pathophysiology.

Expression and subcellular localization of USH1C/harmonin in the human retina provide insights into pathomechanisms and therapy

The paper investigates harmonin expression and localization in human retinas to understand USH1C pathophysiology and potential gene therapy approaches.

Early Disruption of Photoreceptor Cell Architecture and Loss of Vision in a Humanized Pig Model of Usher Syndrome

This study creates a humanized pig model of Usher syndrome type 1, showing disrupted photoreceptor architecture and vision loss, and validates gene therapy approaches.

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.