Compartmentalization of photoreceptor sensory cilia

CL Barnes, H Malhotra, PD Calvert - Frontiers in Cell and …, 2021 - frontiersin.org
Functional compartmentalization of cells is a universal strategy for segregating processes
that require specific components, undergo regulation by modulating concentrations of those …

[PDF][PDF] Molecular genetics of human visual pigments

J Nathans, SL Merbs, C Sung, CJ Weitz… - Annual review of …, 1992 - scholar.archive.org
Human vision is based upon four light-sensitive pigments: in dim light, it is mediated by
rhodopsin, the visual pigment in rod photoreceptors, and at higher light levels, it is mediated …

The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation

RS Saliba, PMG Munro, PJ Luthert… - Journal of cell …, 2002 - journals.biologists.com
Mutations in the photopigment rhodopsin are the major cause of autosomal dominant
retinitis pigmentosa. The majority of mutations in rhodopsin lead to misfolding of the protein …

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

TP Dryja, LB Hahn, GS Cowley, TL McGee… - Proceedings of the …, 1991 - pnas.org
We searched for point mutations in every exon of the rhodopsin gene in 150 patients from
separate families with autosomal dominant retinitis pigmentosa. Including the 4 mutations …

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein

GH Travis, JG Sutcliffe, D Bok - Neuron, 1991 - cell.com
Mice homozygous for the retinal degeneration slow (rds) mutation exhibit abnormal
development of photorecep tor cells, followed by their slow degeneration. We have recently …

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

L Zelinger, E Banin, A Obolensky… - The American Journal of …, 2011 - cell.com
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations
caused by mutations in at least 50 genes. Using homozygosity map** in Ashkenazi …

[HTML][HTML] Retinal degeneration in tulp1−/− mice: vesicular accumulation in the interphotoreceptor matrix

SA Hagstrom, M Duyao, MA North… - … ophthalmology & visual …, 1999 - tvst.arvojournals.org
purpose. The Tulp1 gene is a member of the tubby gene family with unknown function.
Mutations in the human TULP1 gene cause autosomal recessive retinitis pigmentosa. To …

Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane

GJ Connell, RS Molday - Biochemistry, 1990 - ACS Publications
Revised Manuscript Received January 16, 1990 abstract: Peripherin, a 39-kDa membrane
protein, has been previously localized to the rim region of the vertebrate rod photoreceptor …

Disruption of microfilament organization and deregulation of disk membrane morphogenesis by cytochalasin D in rod and cone photoreceptors

DS Williams, KA Linberg, DK Vaughan… - Journal of …, 1988 - Wiley Online Library
Morphogenesis of photoreceptor outer segment disks appears to occur by an evagination of
the ciliary plasma membrane (Steinberg et al., J Comp Neurol190: 501-519,'80). We tested if …

The Photoreceptor Connecting Cilium A Model for the Transition Zone: A Model for the Transition Zone

JC Besharse, CJ Horst - Ciliary and flagellar membranes, 1990 - Springer
Vertebrate photoreceptors provide an excellent system for investigating the organization and
maintenance of the membrane domains and cell polarity necessary for sensory function. In …