Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.

No abstract is available for this paper.

• Publication year

  2013

• Venue

  American Journal of Human Genetics

• Publication date

  2013-07-11

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ajhg.2013.05.005PMID 23746546PMCID PMC3710761
• 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.

• Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

  2013cited by this paper
• Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

  2012cited by this paper
• Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

  2012cited by this paper
• Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

  2011cited by this paper
• XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

  2011cited by this paper
• The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

  2011cited by this paper
• Coordination of Rab8 and Rab11 in primary ciliogenesis

  2010cited by this paper
• Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

  2010cited by this paper
• Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

  2010cited by this paper
• Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

  2010cited by this paper
• Rab and actomyosin-dependent fission of transport vesicles at the Golgi complex

  2010cited by this paper
• MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

  2010cited by this paper
• Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

  2009cited by this paper
• Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

  2009cited by this paper
• EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

  2008cited by this paper
• Large nucleotide‐dependent conformational change in Rab28

  2008cited by this paper
• Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

  2008cited by this paper
• Towards Complete Sets of Farnesylated and Geranylgeranylated Proteins

  2007cited by this paper
• Cone rod dystrophies

  2007cited by this paper
• Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

  2007cited by this paper
• Refinement and prediction of protein prenylation motifs

  2005cited by this paper
• Rab11 mediates post-Golgi trafficking of rhodopsin to the photosensitive apical membrane of Drosophila photoreceptors

  2005cited by this paper
• The cone dysfunction syndromes

  2004cited by this paper
• The cone dysfunction syndromes

  2004cited by this paper
• Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

  2004cited by this paper
• RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

  2003cited by this paper
• Evolution of the Rab family of small GTP-binding proteins.

  2001cited by this paper
• Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods.

  2001cited by this paper
• The Rab GTPase family

  2001cited by this paper
• Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

  1998cited by this paper
• Rab proteins and post‐Golgi trafficking of rhodopsin in photoreceptor cells

  1997cited by this paper
• Alternative mRNA splicing of the novel GTPase Rab28 generates isoforms with different C-termini.

  1996cited by this paper
• rab8 in retinal photoreceptors may participate in rhodopsin transport and in rod outer segment disk morphogenesis.

  1995cited by this paper
• Four additional members of the ras gene superfamily isolated by an oligonucleotide strategy: molecular cloning of YPT-related cDNAs from a rat brain library.

  1987cited by this paper

• Investigation of Glutarimide N-Alkylated Derivatives of Lenalidomide.

  2025cites this paper
• A tale of Rabs and the exocyst complex in ciliary trafficking and biogenesis

  2025cites this paper
• Retinal photoreceptor cilia and ciliopathies: Molecular mechanisms and therapeutic strategies.

  2025cites this paper
• Long-read RNA sequencing identifies region- and sex-specific C57BL/6J mouse brain mRNA isoform expression and usage

  2024cites this paper
• The Formation and Renewal of Photoreceptor Outer Segments

  2024cites this paper
• Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy

  2024influential citation
• Long-read RNA sequencing identifies region- and sex-specific C57BL/6J mouse brain mRNA isoform expression and usage

  2024cites this paper
• Differential Analysis of Cereblon Neosubstrates in Rabbit Embryos Using Targeted Proteomics

  2024cites this paper
• Updates on protein-prenylation and associated inherited retinopathies

  2024cites this paper
• PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia

  2023cites this paper
• The effects of ush2a gene knockout on vesicle transport in photoreceptors.

  2023cites this paper
• Gene therapy for RAB28: What can we learn from zebrafish?

  2023influential citation
• Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations

  2023cites this paper
• Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance

  2023cites this paper
• Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment

  2022cites this paper
• Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders

  2022cites this paper
• Dawn and dusk peaks of outer segment phagocytosis, and visual cycle function require Rab28

  2022cites this paper
• Disruption of CFAP418 interaction with lipids causes abnormal membrane-associated cellular processes in retinal degenerations

  2022cites this paper
• Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders

  2022cites this paper
• Shedding of ciliary vesicles at a glance.

  2022cites this paper
• Genetics of Pathologic Myopia

  2021cites this paper
• Ultrafast, alignment-free detection of repeat expansions in NGS and RNAseq data

  2021cites this paper
• Ultrafast, alignment-free detection of repeat expansions in next-generation DNA and RNA sequencing data

  2021cites this paper
• The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

  2021cites this paper
• Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding

  2020cites this paper
• A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

  2020cites this paper
• Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

  2020influential citation
• Loss of endocytosis-associated RabGEF1 causes aberrant morphogenesis and altered autophagy in photoreceptors leading to retinal degeneration

  2020cites this paper
• Rab family of small GTPases: an updated view on their regulation and functions

  2020cites this paper
• Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.

  2020cites this paper
• Genetic Association of Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy.

  2020cites this paper
• Genetic Deletion of Zebrafish Rab28 Causes Defective Outer Segment Shedding, but Not Retinal Degeneration

  2020cites this paper
• Protein Sorting in Healthy and Diseased Photoreceptors.

  2019cites this paper
• The Ras Superfamily of Small GTPases in Non-neoplastic Cerebral Diseases

  2019cites this paper
• Human Mutation

  2019cites this paper
• A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

  2019cites this paper
• A ciliary BBSome-ARL-6-PDE6D pathway trafficks RAB-28, a negative regulator of 1 extracellular vesicle biogenesis. 2

  2019cites this paper
• Rab28 is localised to photoreceptor outer segments, regulates outer segment shedding but is not linked to retinal degeneration in zebrafish

  2019cites this paper
• Rab35 controls cilium length, function and membrane composition

  2019cites this paper
• A ciliary BBSome-ARL-6-PDE6D pathway trafficks RAB-28, a negative regulator of extracellular vesicle biogenesis

  2019cites this paper
• Inherited Retinal Dystrophies

  2019cites this paper
• The Genetics of Inherited Retinal Diseases in the Israeli and Palestinian Populations: A Lesson from Populations with High Rates of Consanguinity

  2018cites this paper
• Consequences of Rab GTPase dysfunction in genetic or acquired human diseases

  2018cites this paper
• The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium

  2018cites this paper
• The progression of the ClinGen gene clinical validity classification over time

  2018influential citation
• Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

  2018cites this paper
• Panel-Based Next-Generation Sequencing for Inherited Retinal Degenerations in Koreans

  2018cites this paper
• Molecular Insights into the Roles of Rab Proteins in Intracellular Dynamics and Neurodegenerative Diseases

  2018cites this paper
• Rab28 is a TBC1D1/TBC1D4 substrate involved in GLUT4 trafficking

  2017cites this paper
• A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone–rod dystrophy

  2017cites this paper
• Gates for soluble and membrane proteins, and two trafficking systems (IFT and LIFT), establish a dynamic ciliary signaling compartment.

  2017cites this paper
• Rab GTPases in cilium formation and function

  2017cites this paper
• Photoreceptor Cilia and Retinal Ciliopathies.

  2017cites this paper
• Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family

  2017cites this paper
• Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis

  2017cites this paper
• Mechanism and evidence of nonsense suppression therapy for genetic eye disorders

  2017cites this paper
• Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.

  2017cites this paper
• Evolutionary proteomics uncovers ciliary signaling components

  2017cites this paper
• Whole Genome Sequencing in Genetic Eye Diseases

  2017cites this paper
• Statins and Protein Prenylation in the Retina

  2017cites this paper
• Title : Mechanism and evidence of nonsense suppression therapy for genetic eye 1 disorders 2 3

  2017cites this paper
• Cilia - The sensory antennae in the eye.

  2017cites this paper
• Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

  2016cites this paper
• Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

  2016cites this paper
• Genetics of ABCA4-associated Diseases and Retinitis Pigmentosa

  2016cites this paper
• Complex Regulation of Protein Trafficking and Photoreceptor Cell Development by Small GTPases

  2016cites this paper
• Introducing Anneke I. den Hollander, the Recipient of the 2015 Cogan Award.

  2016cites this paper
• Small GTPases Rab8a and Rab11a Are Dispensable for Rhodopsin Transport in Mouse Photoreceptors

  2016cites this paper
• Next Generation Sequencing in Vision and Hearing Impairment

  2016cites this paper
• Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport

  2016cites this paper
• Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences

  2016cites this paper
• Sperm dysfunction and ciliopathy

  2016cites this paper
• RNAi Screen for NRF2 Inducers Identifies Targets That Rescue Primary Lung Epithelial Cells from Cigarette Smoke Induced Radical Stress

  2016cites this paper
• Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

  2015cites this paper
• Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions

  2015cites this paper
• Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.

  2015cites this paper
• Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features

  2015cites this paper
• New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

  2015cites this paper
• Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

  2015cites this paper
• Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

  2015cites this paper
• Cellular functions of Rab GTPases at a glance

  2015cites this paper
• Biology and therapy of inherited retinal degenerative disease: insights from mouse models

  2015influential citation
• Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

  2015cites this paper
• Nonsense suppression therapies in ocular genetic diseases

  2015cites this paper
• Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

  2014cites this paper
• The role of primary cilia in the development and disease of the retina

  2014cites this paper
• Developments in Ocular Genetics: 2013 Annual Review

  2014cites this paper
• Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

  2014cites this paper
• ‘RetinoGenetics’: a comprehensive mutation database for genes related to inherited retinal degeneration

  2014cites this paper
• Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

  2014cites this paper
• Molecular Genetic Basis of Recessively Inherited Retinal Dystrophies in the Saudi Population

  2014cites this paper
• ‘RetinoGenetics’: a comprehensive mutation database for genes related to inherited retinal degeneration

  2014cites this paper
• Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.

  2014cites this paper
• Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa

  2014cites this paper
• Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

  2014influential citation
• Prenylation defects in inherited retinal diseases

  2014cites this paper
• Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

  2014cites this paper
• Membrane protein transport in photoreceptors: the function of PDEδ: the Proctor lecture.

  2014cites this paper
• Causes and consequences of inherited cone disorders.

  2014cites this paper
• Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

  2013cites this paper