A5025580632- Mitochondrial Function and Pathology
- Retinal Diseases and Treatments
- Intraocular Surgery and Lenses
- Glaucoma and retinal disorders
- Retinal Development and Disorders
- Retinal and Optic Conditions
- Ocular Diseases and Behçet’s Syndrome
- Ocular Disorders and Treatments
- Corneal Surgery and Treatments
- Peroxisome Proliferator-Activated Receptors
- Ocular Infections and Treatments
- Endoplasmic Reticulum Stress and Disease
- Ophthalmology and Eye Disorders
- Genetic Neurodegenerative Diseases
- Cancer, Hypoxia, and Metabolism
- Adipose Tissue and Metabolism
- Developmental Biology and Gene Regulation
- Autophagy in Disease and Therapy
- Retinal and Macular Surgery
- Drug-Induced Ocular Toxicity
- Genetics and Neurodevelopmental Disorders
- Ophthalmology and Visual Health Research
- Connexins and lens biology
- Venous Thromboembolism Diagnosis and Management
- Traumatic Ocular and Foreign Body Injuries
University of Alberta
2013-2024
Nemours Children's Health System
2024
Charles River Laboratories (United Kingdom)
2024
Charles River Laboratories (Netherlands)
2024
Grinnell College
2024
National Eye Institute
2022-2023
National Institutes of Health
2022-2023
University of Michigan
2022
Protein secretion from the endoplasmic reticulum (ER) requires enzymatic activity of chaperones and oxidoreductases that fold polypeptides form disulfide bonds within newly synthesized proteins. The best-characterized ER redox relay depends on transfer oxidizing equivalents molecular oxygen through oxidoreductin 1 (Ero1) protein isomerase to nascent polypeptides. formation is, however, not sole function oxidoreductases, which are also important regulators calcium homeostasis. Given role...
The mitochondria-associated membrane (MAM) has emerged as an endoplasmic reticulum (ER) signaling hub that accommodates ER chaperones, including the lectin calnexin. At MAM, these chaperones control homeostasis but also play a role in onset of stress-mediated apoptosis, likely through modulation calcium signaling. These opposing roles MAM-localized suggest existence mechanisms regulate composition and properties domains. Our results now show GTPase Rab32 localizes to mitochondria, we...
The palmitoylation of calnexin serves to enrich on the mitochondria-associated membrane (MAM). Given a lack information significance this finding, we have investigated how endoplasmic reticulum (ER)-internal sorting signal affects functions calnexin. Our results demonstrate that palmitoylated interacts with sarcoendoplasmic (SR) calcium transport ATPase (SERCA) 2b and interaction determines ER content regulation ER-mitochondria crosstalk. In contrast, non-palmitoylated oxidoreductase ERp57...
Abstract The manufacturing of therapeutic antibodies requires expensive, complex, and frequently challenging production that keeps the cost treatment in clinic high. Alternatively, leveraging novel modalities such as mRNA to encode therapeutics circumvents many problems associated with large-scale biologics, instead relies on vivo expression within patients. Importantly, recent work demonstrates translated from pre-clinical models can be readily detected hours persist up several weeks. Peak...
Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial condition associated early onset and non-progressive ataxia. The cardiac manifestations may be progressive often severe, resulting in significant morbidity mortality. While optic nerve atrophy has been described patients DCMA, to our knowledge, there have no reports of additional ocular phenotypes. We present two related Dariusleut Hutterite documented DCMA disorders motility: poor smooth pursuit difficulty initiating...
Usher syndrome is a genetically heterogeneous condition and represents the most common cause of inherited combined vision hearing loss. Deficits manifest as sensorineural loss that typically develops at young age retinitis pigmentosa can lead to peripheral night blindness. As result, this have significant impact on patient’s quality life. Previous studies described an association between Fuchs’ heterochromic iridocyclitis, form non-granulomatous uveitis generally presents in unilateral...
To analyze the single surgery success rate and anterior segment complications related to phacoemulsification intraocular lens implantation in a series of patients undergoing phacovitrectomy for all types primary rhegmatogenous retinal detachment.We performed retrospective interventional case on 302 eyes detachment repair between November 1, 2016, February 2, 2019, Edmonton, Canada. Primary outcomes included reattachment complications. Secondary effects proliferative vitreoretinopathy macula...
To describe a group of patients with retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy tapetal-like retinal sheen and corresponding changes in the reflectivity ellipsoid zone on optical coherence tomography (OCT) imaging.A retrospective case series 66 disease-causing variant RPGR was performed. An expert examiner, masked to patient demographics, clinical evaluations, specific variant, analyzed color fundus photographs for presence assessed OCT images an abnormally broad...
Abstract Refsum disease is a rare inherited metabolic disorder arising from defect in peroxisomal metabolism. Patients lack the functional enzyme phytanoyl‐CoA hydroxylase, resulting perturbed alpha oxidation of fatty acids. Phytanic acid accumulates nervous and adipose tissue leads to several phenotypes including early‐onset retinal degeneration, hearing loss, peripheral neuropathy, anosmia, cerebellar ataxia, among others. Currently, restricting dietary phytanic only means altering chronic...
To describe a case of Stevens-Johnson syndrome (SJS) diagnosed in patient presenting with primarily ocular findings where SJS had not been initially suspected. A 23-year-old female presented 2 day history bilateral eye pain, conjunctival injection, decreased visual acuity, and photophobia the context 4 fever, headache, sore throat. She was found to have superficial keratitis treated for suspected early infectious secondary extended contact lens wear. returned next worsening symptoms, new...
Background: Canavan disease is an autosomal recessive, neurodegenerative disorder caused by mutations in ASPA, a gene encoding the enzyme aspartoacylase. Patients present with macrocephaly, developmental delay, hypotonia, vision impairment and accumulation of N-acetylaspartic acid. Progressive white matter changes occur central nervous system. The often fatal early childhood, but milder forms exist.Materials methods: Case report.Results: We case 31-year-old male mild/juvenile who had severe...
To report a rare case of congenital glaucoma in patient with CHARGE syndrome, present gonioscopic photographs, and explore mechanisms disease that may account for this association.We describe 35-week-old girl previously diagnosed syndrome who presented corneal edema, buphthalmos, elevated intraocular pressure the left eye. She was subsequently started on topical oral therapy.Examination under anesthesia confirmed above findings as well bilateral abnormal angles an anterior iris insertion at...
Purpose To describe outcomes of combined rituximab and bortezomib treatment for non-paraneoplastic autoimmune retinopathy.Case A 37-year-old female developed photopsias reduced vision. Electroretinography, optical coherence tomography, positive serum anti-retinal antibodies were consistent with retinopathy. negative malignancy work-up specified her presentation. Given absence response to periocular steroids, azathioprine, methotrexate, a combination was initiated as fifth-line...
Peroxisomal biogenesis disorders (PBDs) represent a spectrum of conditions that result in vision loss, sensorineural hearing neurologic dysfunction, and other abnormalities resulting from aberrant peroxisomal function caused by mutations PEX genes. With no treatments currently available, we sought to investigate the disease mechanism patient with PBD defects PEX6 probe whether overexpression could restore peroxisome potentially offer therapeutic benefit.Laboratory-based study.A 12-year-old...
Purpose To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular dystrophy identification of novel PRPH2 variant.