Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells

Autor: Paolo Enrico Maltese, Benedetto Falsini, Valerio Marino, Elisa De Siena, Giuditta Dal Cortivo, Giorgio Placidi, Matteo Bertelli, Daniele Dell'Orco

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 4030, p 4030 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 8

Guanylate cyclase-activating protein 1 (GCAP1) is involved in the shutdown of the phototransduction cascade by regulating the enzymatic activity of retinal guanylate cyclase via a Ca2+/cGMP negative feedback. While the phototransduction-associated ro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::237383f5a0ddd5f9983f5028632bfb7b
https://www.mdpi.com/1422-0067/22/8/4030

Sporadic adult-onset neuronal intranuclear inclusion disease with abnormal electroretinogram, nerve conduction studies and somatosensory evoked potential

Autor: Bungo Hirose, Haruo Uesugi, Shun Shimohama, Jun Sone, Gen Sobue, Shin Hisahara

Publikováno v: Rinsho Shinkeigaku. 58:407-410

A 70-year-old man, a urinary retention of unknown origin from 10 years ago, decreased cognitive function from 4 years ago, vision impairment advanced a year ago. Brain MRI with DWI showed high intensity erea in the cortico-medullary junction. We diag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1cd757dc9d8ec6c3300745dfc5978a2
https://doi.org/10.5692/clinicalneurol.cn-001154

Deafness and retinal degeneration in a novel USH1C knock-in mouse model

Autor: Glen MacDonald, Edwin W. Rubel, Carol A. Robbins, Dale E. Cunningham, Hamilton E. Farris, William C. Gordon, Nicolas G. Bazan, Bruce L. Tempel, Jennifer J Lentz, Bronya J.B. Keats, Elizabeth C. Oesterle

Publikováno v: Developmental Neurobiology. 70:253-267

Usher syndrome is the leading cause of combined deaf-blindness, but the molecular mechanisms underlying the auditory and visual impairment are poorly understood. Usher I is characterized by profound congenital hearing loss, vestibular dysfunction and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::461dbebc5d259062602e14aa67f0a357
https://doi.org/10.1002/dneu.20771

Ophthalmic Manifestations of Danon Disease

Autor: Matthew R.G. Taylor, F. Ryan Prall, Jeffrey L. Olson, Lisa Ku, Naresh Mandava, Arlene V. Drack, Luisa Mestroni, Darren G. Gregory

Publikováno v: Ophthalmology. 113:1010-1013

Purpose To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females. Design Retrospective case series. Participants Patients with genetically proven Danon disease. Methods Retr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b989b301dfe73bca96424e5c4b8aaf61
https://doi.org/10.1016/j.ophtha.2006.02.030

Improved visual function with dietary intervention in a child with lipemia retinalis

Autor: Ken K. Nischal, Anagha Medsinge, Valeria L. N. Fu, Hannah L. Scanga

Publikováno v: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 18(5)

We present a 4.8-year-old female with grade 3 lipemia retinalis due to lipoprotein lipase deficiency, an abnormal electroretinogram, and bilateral decreased visual acuity. Strict dietary intervention resulted in reversal of lipemia retinalis, normali

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42b46fac3fea4171c1111b0ecfc5ea08
https://pubmed.ncbi.nlm.nih.gov/25439305