Kretschmer et al., 2019 - Google Patents

Progressive characterization of visual phenotype in Bardet-Biedl syndrome mutant mice

Kretschmer et al., 2019

View HTML
Document ID
7969862887069159891
Author
Kretschmer V
Patnaik S
Kretschmer F
Chawda M
Hernandez-Hernandez V
May-Simera H
Publication year
Publication venue
Investigative ophthalmology & visual science

External Links

Snippet

Purpose: Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function. Insights gained from BBS mouse models are applicable to other syndromic and nonsyndromic retinal diseases. This progressive …
Continue reading at iovs.arvojournals.org (HTML) (other versions)

Classifications

    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K38/00Medicinal preparations containing peptides
    • A61K38/16Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/17Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • A61K38/1703Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • A61K38/1709Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K31/00Medicinal preparations containing organic active ingredients
    • A61K31/185Acids; Anhydrides, halides or salts thereof, e.g. sulfur acids, imidic, hydrazonic, hydroximic acids
    • A61K31/19Carboxylic acids, e.g. valproic acid
    • A61K31/20Carboxylic acids, e.g. valproic acid having a carboxyl group bound to a chain of seven or more carbon atoms, e.g. stearic, palmitic, arachidic acids
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K31/00Medicinal preparations containing organic active ingredients
    • A61K31/56Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives, e.g. steroids
    • A61K31/57Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives, e.g. steroids substituted in position 17 beta by a chain of two carbon atoms, e.g. pregnane, progesterone
    • A61K31/573Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives, e.g. steroids substituted in position 17 beta by a chain of two carbon atoms, e.g. pregnane, progesterone substituted in position 21, e.g. cortisone, dexamethasone, prednisone or aldosterone
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K31/00Medicinal preparations containing organic active ingredients
    • A61K31/16Amides, e.g. hydroxamic acids
    • A61K31/165Amides, e.g. hydroxamic acids having aromatic rings, e.g. colchicine, atenolol, progabide
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K31/00Medicinal preparations containing organic active ingredients
    • A61K31/70Carbohydrates; Sugars; Derivatives thereof
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K9/00Medicinal preparations characterised by special physical form
    • A61K9/0012Galenical forms characterised by the site of application

Similar Documents

Publication Publication Date Title
Kretschmer et al. Progressive characterization of visual phenotype in Bardet-Biedl syndrome mutant mice
Berry et al. Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches
Mitsios et al. Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments
Dulac et al. Drp1 knockdown induces severe muscle atrophy and remodelling, mitochondrial dysfunction, autophagy impairment and denervation
Wang et al. Two-step reactivation of dormant cones in retinitis pigmentosa
Pierce et al. The status of RPE65 gene therapy trials: safety and efficacy
Zode et al. Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma
Beltran et al. Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease
Pennesi et al. Choroideremia: retinal degeneration with an unmet need
Arnold et al. The hormone prolactin is a novel, endogenous trophic factor able to regulate reactive glia and to limit retinal degeneration
Gomez-Vicente et al. Neuroprotective effect of tauroursodeoxycholic acid on N-methyl-D-aspartate-induced retinal ganglion cell degeneration
Sahel et al. Depicting brighter possibilities for treating blindness
Duncan et al. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene
Silberman et al. SIRT6 is required for normal retinal function
Jeon et al. Effect of intravitreal triamcinolone in diabetic macular edema unresponsive to intravitreal bevacizumab
Santiago et al. A drug-tunable gene therapy for broad-spectrum protection against retinal degeneration
Collery et al. Loss of zebrafish Mfrp causes nanophthalmia, hyperopia, and accumulation of subretinal macrophages
Leroy et al. Is hyperexcitability really guilty in amyotrophic lateral sclerosis?
Hahn et al. Proapoptotic bcl-2 family members, Bax and Bak, are essential for developmental photoreceptor apoptosis
Ikeda et al. Safety and effectiveness of a novel neuroprotectant, KUS121, in patients with non-arteritic central retinal artery occlusion: an open-label, non-randomized, first-in-humans, phase 1/2 trial
Abu Diab et al. The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
Muraleva et al. The mitochondria-targeted antioxidant SkQ1 restores α B-crystallin expression and protects against AMD-like retinopathy in OXYS rats
Chen et al. The rodent model of glaucoma and its implications
Van Hook Influences of Glaucoma on the Structure and Function of Synapses in the Visual System
Arsenijevic et al. Fine-tuning FAM161A gene augmentation therapy to restore retinal function