4.6 Article

The effects of ush2a gene knockout on vesicle transport in photoreceptors

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。
Article Biochemistry & Molecular Biology

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

Giancarlo Iarossi et al.

Summary: This study characterized five individuals from four Italian families with alterations in the RAB28 gene, resulting in a similar clinical phenotype. A novel missense variant was found to impair GTP binding affinity, leading to Rab-28 being in an inactive state.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Neurosciences

USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans

Fred Schwaller et al.

Summary: The study found that the USH2A protein in Meissner's corpuscles is necessary for humans and mice to perceive tiny vibrations. Mutations in USH2A lead to impairments in vibrotactile touch perception in patients and mice, indicating a crucial role of USH2A in the mechanoreceptor sensitivity and vibration perception in corpuscular end-organs.

NATURE NEUROSCIENCE (2021)

Article Biochemistry & Molecular Biology

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

Maria Toms et al.

HUMAN MOLECULAR GENETICS (2020)

Article Biochemistry & Molecular Biology

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)

Review Ophthalmology

Non-syndromic retinitis pigmentosa

Sanne K. Verbakel et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2018)

Article Biochemistry & Molecular Biology

CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish

Shanshan Yu et al.

HUMAN MOLECULAR GENETICS (2017)

Article Neurosciences

Analysis of RIM Expression and Function at Mouse Photoreceptor Ribbon Synapses

Martina Loehner et al.

JOURNAL OF NEUROSCIENCE (2017)

Article Multidisciplinary Sciences

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish

Rakesh K. Raghupathy et al.

SCIENTIFIC REPORTS (2017)

Review Oncology

Rab proteins: The key regulators of intracellular vesicle transport

Tanmay Bhuin et al.

EXPERIMENTAL CELL RESEARCH (2014)

Article Genetics & Heredity

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)

Editorial Material Cell Biology

Vesicle Transport and Photoreceptor Death: Fishing for Molecular Links

Kerstin Nagel-Wolfrum et al.

DEVELOPMENTAL CELL (2013)

Article Ophthalmology

Protein sorting, targeting and trafficking in photoreceptor cells

Jillian N. Pearring et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2013)

Article Cell Biology

Vesicular transport earns a Nobel

Juan S. Bonifacino

TRENDS IN CELL BIOLOGY (2013)

Review Genetics & Heredity

Genetics and pathological mechanisms of Usher syndrome

Denise Yan et al.

JOURNAL OF HUMAN GENETICS (2010)

Article Ophthalmology

Cell Transplantation to Arrest Early Changes in an Ush2a Animal Model

Bin Lu et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)

Review Anatomy & Morphology

What Drives Cell Morphogenesis: A Look Inside the Vertebrate Photoreceptor

Breandan Kennedy et al.

DEVELOPMENTAL DYNAMICS (2009)

Article Multidisciplinary Sciences

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)

Review Medicine, General & Internal

Retinitis pigmentosa

Dyonne T. Hartong et al.

LANCET (2006)

Article Ophthalmology

Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells

QS Xi et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)

Article Ophthalmology

A role for cytoskeletal elements in the light-driven translocation of proteins in rod photoreceptors

JJ Peterson et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)