相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families
Giancarlo Iarossi et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans
Fred Schwaller et al.
NATURE NEUROSCIENCE (2021)
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease
Maria Toms et al.
HUMAN MOLECULAR GENETICS (2020)
Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking
Zhen Qu et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2019)
SNARE-mediated vesicle navigation, vesicle anatomy and exocytotic fusion pore
Robert Zorec
CELL CALCIUM (2018)
Non-syndromic retinitis pigmentosa
Sanne K. Verbakel et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2018)
Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy
Shanshan Han et al.
HUMAN GENETICS (2018)
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish
Shanshan Yu et al.
HUMAN MOLECULAR GENETICS (2017)
Analysis of RIM Expression and Function at Mouse Photoreceptor Ribbon Synapses
Martina Loehner et al.
JOURNAL OF NEUROSCIENCE (2017)
Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish
Rakesh K. Raghupathy et al.
SCIENTIFIC REPORTS (2017)
The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome
Lu Yao et al.
PLOS ONE (2016)
Rab6 Is Required for Multiple Apical Transport Pathways but Not the Basolateral Transport Pathway in Drosophila Photoreceptors
Nozomi Iwanami et al.
PLOS GENETICS (2016)
The Arf and Rab11 effector FIP3 acts synergistically with ASAP1 to direct Rabin8 in ciliary receptor targeting
Jing Wang et al.
JOURNAL OF CELL SCIENCE (2015)
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking
Ruxandra Bachmann-Gagescu et al.
PLOS GENETICS (2015)
Rab proteins: The key regulators of intracellular vesicle transport
Tanmay Bhuin et al.
EXPERIMENTAL CELL RESEARCH (2014)
Submembrane Assembly and Renewal of Rod Photoreceptor cGMP-Gated Channel: Insight into the Actin-Dependent Process of Outer Segment Morphogenesis
Ina Nemet et al.
JOURNAL OF NEUROSCIENCE (2014)
Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
Susanne Roosing et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Vesicle Transport and Photoreceptor Death: Fishing for Molecular Links
Kerstin Nagel-Wolfrum et al.
DEVELOPMENTAL CELL (2013)
Protein sorting, targeting and trafficking in photoreceptor cells
Jillian N. Pearring et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2013)
Vesicular transport earns a Nobel
Juan S. Bonifacino
TRENDS IN CELL BIOLOGY (2013)
Genetics and pathological mechanisms of Usher syndrome
Denise Yan et al.
JOURNAL OF HUMAN GENETICS (2010)
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
Terri L. McGee et al.
JOURNAL OF MEDICAL GENETICS (2010)
Cell Transplantation to Arrest Early Changes in an Ush2a Animal Model
Bin Lu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
What Drives Cell Morphogenesis: A Look Inside the Vertebrate Photoreceptor
Breandan Kennedy et al.
DEVELOPMENTAL DYNAMICS (2009)
The Role of Rhodopsin Glycosylation in Protein Folding, Trafficking, and Light-Sensitive Retinal Degeneration
Beatrice M. Tam et al.
JOURNAL OF NEUROSCIENCE (2009)
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
Maxence V. Nachury et al.
CELL (2007)
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
Xiaoqing Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Molecular basis of human Usher syndrome:: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
Jan Reiners et al.
EXPERIMENTAL EYE RESEARCH (2006)
Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells
QS Xi et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
A role for cytoskeletal elements in the light-driven translocation of proteins in rod photoreceptors
JJ Peterson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Mutant rab8 impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods
OL Moritz et al.
MOLECULAR BIOLOGY OF THE CELL (2001)