Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration
RS Molday, FA Garces, JF Scortecci… - Progress in retinal and eye …, 2022 - Elsevier
ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters that is
preferentially localized along the rim region of rod and cone photoreceptor outer segment …
preferentially localized along the rim region of rod and cone photoreceptor outer segment …
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 …
light stimuli into cellular signals, and then convey the encoded information to downstream …
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
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 …
Here we summarize the retinal cell types involved in these diseases, the large number of …
Regressive Evolution in Astyanax Cavefish
WR Jeffery - Annual review of genetics, 2009 - annualreviews.org
A diverse group of animals, including members of most major phyla, have adapted to life in
the perpetual darkness of caves. These animals are united by the convergence of two …
the perpetual darkness of caves. These animals are united by the convergence of two …
The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily
M Illing, LL Molday, RS Molday - Journal of Biological Chemistry, 1997 - ASBMB
Outer segments of mammalian rod photoreceptor cells contain an abundantly expressed
membrane protein that migrates with an apparent molecular mass of 220 kDa by SDS-gel …
membrane protein that migrates with an apparent molecular mass of 220 kDa by SDS-gel …
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 …
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 …
outer segments. The relevance of this protein to photoreceptor outer segment morphology …
Evolution and development in cave animals: from fish to crustaceans
M Protas, WR Jeffery - Wiley Interdisciplinary Reviews …, 2012 - Wiley Online Library
Cave animals are excellent models to study the general principles of evolution as well as the
mechanisms of adaptation to a novel environment: the perpetual darkness of caves. In this …
mechanisms of adaptation to a novel environment: the perpetual darkness of caves. In this …
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 …
is expressed in rod and cone photoreceptors of the vertebrate retina. ABCA4, also known as …
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 …
mutations in the peripherin/RDS (RDS) and ROM1 genes. METHODS: The single-strand …