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 …

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 …

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 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 …

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 …

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 …

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 …

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 …