Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration

Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa

(2014) Giulia Venturini et al.   PLoS One

Light-dependent phosphorylation of Bardet–Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1

(2013) Tyler S. Smith et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Progressive Retinal Degeneration and Glial Activation in the CLN6nclf Mouse Model of Neuronal Ceroid Lipofuscinosis: A Beneficial Effect of DHA and Curcumin Supplementation

(2013) Myriam Mirza et al.   PLoS One

Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration

(2013) E. S. Lobanova et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Photoreceptor cell death and rescue in retinal detachment and degenerations

(2013) Yusuke Murakami et al.   PROGRESS IN RETINAL AND EYE RESEARCH

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

(2012) Jeremy F Reiter et al.   EMBO REPORTS

The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association

(2012) Frank Zach et al.   HUMAN MOLECULAR GENETICS

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

(2012) Silvio Alessandro Di Gioia et al.   HUMAN MOLECULAR GENETICS

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

(2012) Rivka A. Rachel et al.   JOURNAL OF CLINICAL INVESTIGATION

Constitutive overexpression of Norrin activates Wnt/β-catenin and endothelin-2 signaling to protect photoreceptors from light damage

(2012) Barbara M. Braunger et al.   NEUROBIOLOGY OF DISEASE

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

(2011) Artur V. Cideciyan et al.   HUMAN MOLECULAR GENETICS

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

(2011) Karsten Boldt et al.   JOURNAL OF CLINICAL INVESTIGATION

IFT20 is required for opsin trafficking and photoreceptor outer segment development

(2011) Brian T. Keady et al.   MOLECULAR BIOLOGY OF THE CELL

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

(2010) Dikla Bandah-Rozenfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

(2010) Thomas Langmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microglia in the healthy and degenerating retina: Insights from novel mouse models

(2010) Marcus Karlstetter et al.   IMMUNOBIOLOGY

Intraflagellar transport molecules in ciliary and nonciliary cells of the retina

(2010) Tina Sedmak et al.   JOURNAL OF CELL BIOLOGY

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content

(2010) Branch Craige et al.   JOURNAL OF CELL BIOLOGY

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

(2010) Alan F. Wright et al.   NATURE REVIEWS GENETICS

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

(2010) Carmen Ayuso et al.   Genome Medicine

Microglia in the Mouse Retina Alter the Structure and Function of Retinal Pigmented Epithelial Cells: A Potential Cellular Interaction Relevant to AMD

(2009) Wenxin Ma et al.   PLoS One

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

(2008) B. L. Krock et al.   JOURNAL OF CELL SCIENCE

Retinitis pigmentosa: cone photoreceptors starving to death

(2008) Paola Bovolenta et al.   NATURE NEUROSCIENCE

Centrins in retinal photoreceptor cells: Regulators in the connecting cilium

(2008) Philipp Trojan et al.   PROGRESS IN RETINAL AND EYE RESEARCH