The tetraspanin web modulates immune-signalling complexes

S Levy, T Shoham - Nature Reviews Immunology, 2005 - nature.com
The tetraspanin web represents a new concept of molecular interactions in the immune
system. Whereas most surface immune-modulating molecules involve receptor–ligand …

Molecular basis for photoreceptor outer segment architecture

AFX Goldberg, OL Moritz, DS Williams - Progress in retinal and eye …, 2016 - Elsevier
To serve vision, vertebrate rod and cone photoreceptors must detect photons, convert the
light stimuli into cellular signals, and then convey the encoded information to downstream …

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

C Rivolta, D Sharon, MM DeAngelis… - Human molecular …, 2002 - academic.oup.com
Retinitis pigmentosa (RP) and allied diseases are heterogeneous clinically and genetically.
Here we summarize the retinal cell types involved in these diseases, the large number of …

Retinitis pigmentosa: defined from a molecular point of view

S Van Soest, A Westerveld, PTVM De Jong… - Survey of …, 1999 - Elsevier
Retinitis pigmentosa (RP) denotes a group of hereditary retinal dystrophies, characterized
by the early onset of night blindness followed by a progressive loss of the visual field. The …

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

CJF Boon, AI den Hollander, CB Hoyng… - Progress in retinal and …, 2008 - Elsevier
Peripherin/rds is an integral membrane glycoprotein, mainly located in the rod and cone
outer segments. The relevance of this protein to photoreceptor outer segment morphology …

[HTML][HTML] Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells

LL Molday, D Hicks, CG Sauer, BHF Weber… - … & visual science, 2001 - arvojournals.org
purpose. To examine the biochemical properties, cell expression, and localization of RS1,
the product of the gene responsible for X-linked juvenile retinoschisis. methods. Rs1h …

Molecular genetics of human retinal disease

A Rattner, H Sun, J Nathans - Annual review of genetics, 1999 - annualreviews.org
▪ Abstract The past decade has witnessed extraordinary progress in retinal disease gene
identification, the analysis of animal and tissue culture models of disease processes, and the …

The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration

RS Molday, M Zhong, F Quazi - … et Biophysica Acta (BBA)-Molecular and …, 2009 - Elsevier
ABCA4 is a member of the ABCA subfamily of ATP binding cassette (ABC) transporters that
is expressed in rod and cone photoreceptors of the vertebrate retina. ABCA4, also known as …

Biochemical defects in ABCR protein variants associated with human retinopathies

H Sun, PM Smallwood, J Nathans - Nature genetics, 2000 - nature.com
Mutations in the gene encoding ABCR (ABCA4), a photoreceptor-specific ATP-binding
cassette (ABC) transporter 1, 2, 3, 4, are responsible for autosomal recessive Stargardt …

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

TP Dryja, LB Hahn, K Kajiwara… - … ophthalmology & visual …, 1997 - iovs.arvojournals.org
PURPOSE: To measure the proportion of cases of retinitis pigmentosa (RP) caused by
mutations in the peripherin/RDS (RDS) and ROM1 genes. METHODS: The single-strand …