The retinal pigment epithelium in visual function

O Strauss - Physiological reviews, 2005 - journals.physiology.org
Located between vessels of the choriocapillaris and light-sensitive outer segments of the
photoreceptors, the retinal pigment epithelium (RPE) closely interacts with photoreceptors in …

Endocytosis and signaling: cell logistics shape the eukaryotic cell plan

S Sigismund, S Confalonieri, A Ciliberto… - Physiological …, 2012 - journals.physiology.org
Our understanding of endocytosis has evolved remarkably in little more than a decade. This
is the result not only of advances in our knowledge of its molecular and biological workings …

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

J Reiners, K Nagel-Wolfrum, K Jürgens, T Märker… - Experimental eye …, 2006 - Elsevier
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to …

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

ZM Ahmed, S Riazuddin, J Ahmad… - Human molecular …, 2003 - academic.oup.com
Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are
known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F) …

Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

X Liu, OV Bulgakov, KN Darrow… - Proceedings of the …, 2007 - National Acad Sciences
Usher syndrome type IIA (USH2A), characterized by progressive photoreceptor
degeneration and congenital moderate hearing loss, is the most common subtype of Usher …

An update on the genetics of usher syndrome

JM Millán, E Aller, T Jaijo, F Blanco-Kelly… - Journal of …, 2011 - Wiley Online Library
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss,
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …

Usher syndrome: molecular links of pathogenesis, proteins and pathways

H Kremer, E van Wijk, T Märker… - Human molecular …, 2006 - academic.oup.com
Usher syndrome is the most common form of deaf-blindness. The syndrome is both clinically
and genetically heterogeneous, and to date, eight causative genes have been identified …

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

T Maerker, E van Wijk, N Overlack… - Human molecular …, 2008 - academic.oup.com
The human Usher syndrome (USH) is the most frequent cause of combined deaf–blindness.
USH is genetically heterogeneous with at least 12 chromosomal loci assigned to three …

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with …

E Van Wijk, RJE Pennings, H te Brinke… - The American Journal of …, 2004 - cell.com
The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most
common subtype of Usher syndrome and is characterized by hearing loss and retinitis …

RFX transcription factors are essential for hearing in mice

R Elkon, B Milon, L Morrison, M Shah… - Nature …, 2015 - nature.com
Sensorineural hearing loss is a common and currently irreversible disorder, because
mammalian hair cells (HCs) do not regenerate and current stem cell and gene delivery …