Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetic and Kidney Cyst Diseases, Protist diversity and phylogeny, Cellular transport and secretion, and Retinal Development and Disorders.
The EH Binding protein EHBP1 operates in a ciliary functional module affected by INPP5E dysfunction.
Accurate MS-Based Diagnostic Amyloid Typing Using Endogenously Normalized Protein Intensities in Formalin-Fixed Paraffin-Embedded Tissue
Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery
KIF13B controls ciliary protein content by promoting endocytic retrieval and suppressing release of large extracellular vesicles from cilia
Loss of INPP5E affects photoreceptor outer segment membrane biogenesis in iPSC-derived human retinal organoids
Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.
KIF13B controls ciliary protein content by promoting endocytic retrieval and suppressing release of large extracellular vesicles from cilia
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme
Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins
WDR31 displays functional redundancy with GTPase-activating proteins (GAPs) ELMOD and RP2 in regulating IFT complex and recruiting the BBSome to cilium.
PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia.
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of <i>Bbs1</i>.
DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2
Ciliopathy-associated missense mutations in IFT140 are hypomorphic and have edgetic effects on protein interaction networks
Probing the sub-cellular mechanisms of LCA5-Leber Congenital Amaurosis and associated gene therapy with expansion microscopy
The Adhesion GPCR VLGR1/ADGRV1 Regulates the Ca2+ Homeostasis at Mitochondria-Associated ER Membranes
Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1
The Adhesion GPCR VLGR1/ADGRV1 Regulates the Ca<sup>2+</sup> Homeostasis at Mitochondria-Associated ER Membranes.
Synaptotagmin-13 orchestrates pancreatic endocrine cell egression and islet morphogenesis.
Intronic enhancers of the human
<i>SNCA</i>
gene predominantly regulate its expression in brain in vivo
TTC30A and TTC30B Redundancy Protects IFT Complex B Integrity and Its Pivotal Role in Ciliogenesis.
Dimethyl fumarate induces ferroptosis and impairs NF-κB/STAT3 signaling in DLBCL
Dimethyl fumarate induces ferroptosis and impairs NF-κB/STAT3 signaling in DLBCL.
Adhesion G protein-coupled receptor VLGR1/ADGRV1 regulates cell spreading and migration by mechanosensing at focal adhesions
Adhesion G protein-coupled receptor VLGR1/ADGRV1 regulates cell spreading and migration by mechanosensing at focal adhesions
Bardet-Biedl syndrome proteins modulate the release of bioactive extracellular vesicles
Bardet-Biedl syndrome proteins modulate the release of bioactive extracellular vesicles.
Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium
WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium