A5071901021- Genetic and Kidney Cyst Diseases
- Cellular transport and secretion
- Hedgehog Signaling Pathway Studies
- Retinal Development and Disorders
- Photoreceptor and optogenetics research
- Glaucoma and retinal disorders
- Microtubule and mitosis dynamics
- Cancer and Skin Lesions
- Retinal Diseases and Treatments
- Genetic Syndromes and Imprinting
- Cystic Fibrosis Research Advances
- Genetic and rare skin diseases.
- Renal and related cancers
- Retinopathy of Prematurity Studies
- Neuroscience and Neuropharmacology Research
- Traumatic Brain Injury and Neurovascular Disturbances
- Toxic Organic Pollutants Impact
- Cerebrospinal fluid and hydrocephalus
- Amino Acid Enzymes and Metabolism
- Dermatologic Treatments and Research
- Vascular Malformations and Hemangiomas
- Autoimmune Bullous Skin Diseases
- Epigenetics and DNA Methylation
- Pancreatic function and diabetes
- Biomedical Research and Pathophysiology
Stanford University
2017-2023
Goethe University Frankfurt
2020
University of Sheffield
2020
Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P2, cause syndrome. Previously we showed OCRL localizes to the primary cilium, which has distinct membrane phospholipid composition, but disruption of phosphoinositides ciliary poorly understood. Here, demonstrate cilia from patient fibroblasts...
Mutations in PKD1 (encoding for polycystin-1 [PC1]) are found 80%–85% of patients with autosomal dominant polycystic kidney disease (ADPKD). We tested the hypothesis that changes actin dynamics result from mutations through dysregulation compartmentalized centrosomal RhoA signaling mediated by specific RhoGAP (ARHGAP) proteins resulting complex cellular cystic phenotype. Initial studies revealed cytoskeleton was highly disorganized cells derived and associated an increase total active ROCK...
Lowe syndrome is a rare X-linked disease that characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral of (OCRL) gene are found patients. Although loss vision major concern for families physicians who take care children, definitive cause visual still unclear. Children usually present with bilateral dense at birth glaucoma, which occurs more than half cases, either concurrently or following cataract surgery.A retrospective...
Glaucoma is a group of progressive optic neuropathies that cause irreversible vision loss. Although elevated intraocular pressure (IOP) associated with the development and progression glaucoma, mechanisms for its regulation are not well understood. Here, we have designed CIBN/CRY2-based optogenetic constructs to study phosphoinositide within distinct subcellular compartments. We show stimulation CRY2-OCRL, an inositol 5-phosphatase, increases aqueous humor outflow lowers IOP in vivo, which...
Senior-Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end-stage renal disease progressive blindness. The most frequent cause of juvenile mutation in the type 1 (NPHP1) gene. NPHP1 encodes protein nephrocystin-1, which functions at transition zone (TZ) primary cilia.We report 9-year-old boy deletion, who bilateral vision decrease cystic disease. Renal function deteriorated require nephrectomy transplant. We performed...
Abstract The mammalian visual system is composed of circuitry connecting sensory input from the retina to processing core cortex. two main retinorecipient brain targets, superior colliculus (SC) and dorsal lateral geniculate nucleus (dLGN), bridge retinal output. primary cilium a conserved organelle increasingly viewed as critical sensor for regulation developmental homeostatic pathways in most cell types. Moreover, cilia have been described crucial neurogenesis, neuronal maturation,...
Purpose: Steroid-induced glaucoma is a common form of secondary open angle characterized by ocular hypertension (elevated intraocular pressure [IOP]) in response to prolonged glucocorticoid exposure. Elevated IOP occurs with increased outflow resistance and altered trabecular meshwork (TM) function. Recently, we used an optogenetic approach TM regulate the 5-phosphatase, OCRL, which contributes regulating PI(4,5)P2 levels. Here, applied this system aim reversing compromised function...
Hexachloronaphthalene (PCN67) is one of the most toxic among polychlorinated naphthalenes. Despite known high bioaccumulation and persistence PCN67 in environment, it still unclear to what extent exposure these substances may interfere with normal neuronal physiology lead neurotoxicity. Therefore, primary goal this study was assess effect vitro models. Neuronal death assessed upon treatment using differentiated PC12 cells hippocampal neurons. At 72 h postexposure, cell viability assays...
Senior-Løken syndrome is a rare genetic disorder which presents with nephronophthisis and retinal degeneration, leading to end-stage renal disease progressive blindness. The most frequent cause of juvenile mutation in the type 1 (NPHP1) gene. NPHP1 encodes protein nephrocystin-1, functions at transition zone (TZ) primary cilia. Here we report 9-year-old patient deletion, who decreased electroretinogram consistent early degeneration. had undergone bilateral nephrectomy transplant....