Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Ophthalmic Genetics

• Publication date

  2004-01-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1080/13816810490514333PMID 15370541
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Choroideremia and gyrate atrophy of the choroid and retina

  2004cited by this paper
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  2003cited by this paper
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• Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa.

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• Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia

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• Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia.

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• A mutation in Rab27a causes the vesicle transport defects observed in ashen mice.

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• Rab escort protein‐1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes.

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• DIFFERENTIAL DIAGNOSIS OF DIFFUSE CHOROIDAL ATROPHIES: Diffuse Choriocapillaris Atrophy, Choroideremia, and Gyrate Atrophy of the Choroid and Retina

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• Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

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• Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.

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• A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy

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• Updates on protein-prenylation and associated inherited retinopathies

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• FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY

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• Parafoveal cone function in choroideremia assessed with adaptive optics optoretinography

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• Cone Photoreceptor Morphology in Choroideremia Assessed Using Non-Confocal Split-Detection Adaptive Optics Scanning Light Ophthalmoscopy

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• Clinical and Genetic Findings in Korean Patients with Choroideremia

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• Retinal Disorders Mimicking Inherited Retinal Diseases

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• Evaluation of CRISPR/Cas9 exon‐skipping vector for choroideremia using human induced pluripotent stem cell‐derived RPE

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• Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures

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• AAV2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial.

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• Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated hCHM Gene Augmentation in Choroideremia Using Adaptive Optics Ophthalmoscopy.

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• Modeling inherited retinal dystrophies using induced pluripotent stem cells

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• Cytoskeletal Alteration Is an Early Cellular Response in Pulmonary Epithelium Infected with Aspergillus fumigatus Rather than Scedosporium apiospermum

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• Genes and Gene Therapy in Inherited Retinal Disease

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• Short-term assessment of subfoveal injection of AAV2-hCHM gene augmentation in choroideremia using adaptive optics ophthalmoscopy

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• SmgGDS: An Emerging Master Regulator of Prenylation and Trafficking by Small GTPases in the Ras and Rho Families

  2021influential citation
• Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?

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• Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) in Patients with Choroideremia

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• Bromhexine elevates REP2 expression to stimulate secretion from human primary conjunctiva fornix epithelial cells

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• Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies

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• Reduced vessel density in deep capillary plexus correlates with retinal layer thickness in choroideremia

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  2017influential citation
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  2015cites this paper
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  2013cites this paper
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• Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients

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