Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Human Molecular Genetics

• Publication date

  2000-11-22

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/9.19.2781PMID 11092754
• 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.

• The Metabolic and Molecular Bases of Inherited Disease

  2001cited by this paper
• Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.

  1999cited by this paper
• Ocular albinism: evidence for a defect in an intracellular signal transduction system

  1999cited by this paper
• A di‐leucine‐based motif in the cytoplasmic tail of LIMP‐II and tyrosinase mediates selective binding of AP‐3

  1998cited by this paper
• Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.

  1997cited by this paper
• Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells.

  1996cited by this paper
• The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.

  1996cited by this paper
• Why do albinos and other hypopigmented mutants lack normal binocular vision, and what else is abnormal in their central visual pathways?

  1996cited by this paper
• Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1)

  1996cited by this paper
• Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

  1995cited by this paper
• A high resolution deletion map of human chromosome Xp22

  1993cited by this paper
• Expression of the mouse tyrosinase gene during embryonic development: recapitulation of the temporal regulation in transgenic mice.

  1992cited by this paper
• Aspects of albinism.

  1992cited by this paper
• Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.

  1992cited by this paper
• Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice.

  1991cited by this paper
• Linkage analysis in X-linked ocular albinism.

  1991cited by this paper
• X-linked ocular albinism. Characteristic pattern of affection in female carriers.

  1990cited by this paper
• Visual anomalies associated with albinism.

  1990cited by this paper
• Electroretinographic findings in human oculocutaneous albinism.

  1989cited by this paper
• Cloned mouse melanocyte lines carrying the germline mutations albino and brown: complementation in culture.

  1989cited by this paper
• A new stabilizing agent for the tetramethyl benzidine (TMB) reaction product in the histochemical detection of horseradish peroxidase (HRP).

  1985cited by this paper
• Macromelanosomes in X-linked ocular albinism (XLOA).

  1985cited by this paper
• Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes

  1983cited by this paper
• Giant pigment granules in the retinal pigment epithelium of a fetus with X-linked ocular albinism

  1983cited by this paper
• Macromelanosomes in X‐linked ocular albinism

  1980cited by this paper
• Origins of crossed and uncrossed retinal projections in pigmented and albino mice

  1980cited by this paper
• Growth characteristics and ultrastructure of human retinal pigment epithelium in vitro.

  1980cited by this paper
• Autosomal dominant dystrophy of the retinal pigment epithelium.

  1979cited by this paper
• Some aspects of melanin biology: 1950-1975.

  1976cited by this paper
• X-Linked Ocular Albinism: An Oculocutaneous Macromelanosomal Disorder

  1976cited by this paper
• The giant melanosome: a model of deranged melanosome-morphogenesis.

  1974cited by this paper
• Light and electron microscopic observations on the pigmented layers of the developing human eye.

  1972cited by this paper
• Mendelian inheritance in man

  1971cited by this paper
• The mouse; its reproduction and development

  1968cited by this paper

• Specialised features of melanosomes in health and disease in the retinal pigment epithelium

  2025cites this paper
• Decreased CREB phosphorylation impairs embryonic retinal neurogenesis in the Oa1-/- mouse model of Ocular albinism

  2024cites this paper
• Two‐pore channel 2 is required for soluble adenylyl cyclase‐dependent regulation of melanosomal pH and melanin synthesis

  2024cites this paper
• UHPLC‐ESI‐QTOF‐MS metabolite profiles of different extracts from Pelargonium endlicherianum parts and their biological properties based on network pharmacological approaches

  2024cites this paper
• Zebrafish Syndromic Albinism Models as Tools for Understanding and Treating Pigment Cell Disease in Humans

  2022cites this paper
• The retinal pigmentation pathway in human albinism: Not so black and white.

  2022cites this paper
• Human Foveal Cone and RPE Cell Topographies and Their Correspondence With Foveal Shape

  2022cites this paper
• Targeting GPCRs and Their Signaling as a Therapeutic Option in Melanoma

  2022cites this paper
• Evidence for Protein–Protein Interaction between Dopamine Receptors and the G Protein-Coupled Receptor 143

  2021cites this paper
• In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium

  2021cites this paper
• Elucidation of Melanogenesis Cascade for Identifying Pathophysiology and Therapeutic Approach of Pigmentary Disorders and Melanoma

  2020cites this paper
• Membrane trafficking in the retinal pigment epithelium at a glance

  2020cites this paper
• Animal Models of Diseases of the Retinal Pigment Epithelium

  2020cites this paper
• Selective Ablation of Megalin in the Retinal Pigment Epithelium Results in Megaophthalmos, Macromelanosome Formation and Severe Retina Degeneration

  2019cites this paper
• The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation

  2019cites this paper
• Current state of research on non‐human primate models of Alzheimer’s disease

  2019cites this paper
• Perspective in Pigmentation Disorders

  2018cites this paper
• Intrinsic and extrinsic regulation of human skin melanogenesis and pigmentation

  2018influential citation
• Interaction between G-coupled Protein Receptor 143 and tyrosinase: Implications for understanding Ocular Albinism Type-1

  2018cites this paper
• A novel locus on chromosome 1 underlies the evolution of a melanic plumage polymorphism in a wild songbird

  2017cites this paper
• Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1.

  2017cites this paper
• Insights into the alpaca skin transcriptome in relation to fibre colour

  2017cites this paper
• Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function.

  2017cites this paper
• The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

  2017cites this paper
• Development of a novel mouse model for the colorectal cancer risk locus at Xp22.2

  2016cites this paper
• GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism

  2016influential citation
• Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes

  2016cites this paper
• Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation

  2016cites this paper
• Retinal pigment epithelial integrity is compromised in the developing albino mouse retina

  2016cites this paper
• Study of Proteins Associated with Retinal Ganglion Cell Axon Misrouting in Ocular Albino Mouse Model

  2016cites this paper
• Dopamine signaling regulates the projection patterns in the mouse chiasm.

  2015cites this paper
• Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs.

  2015cites this paper
• Regulation of melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL

  2015cites this paper
• Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis.

  2014cites this paper
• PAX6 Regulates Melanogenesis in the Retinal Pigmented Epithelium through Feed-Forward Regulatory Interactions with MITF

  2014cites this paper
• Single‐nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition: a systematic review

  2014cites this paper
• Melanosome‐autonomous regulation of size and number: the OA1 receptor sustains PMEL expression

  2014cites this paper
• Abnormalities of Pigmentation

  2013cites this paper
• A Constitutively Active Gαi3 Protein Corrects the Abnormal Retinal Pigment Epithelium Phenotype of Oa1−/− mice

  2013cites this paper
• L-Dopa and the Albino Riddle: Content of L-Dopa in the Developing Retina of Pigmented and Albino Mice

  2013cites this paper
• Expression of OA1 limits the fusion of a subset of MVBs with lysosomes – a mechanism potentially involved in the initial biogenesis of melanosomes

  2013cites this paper
• A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.

  2013cites this paper
• A low zinc diet leads to loss of Zn in melanosomes of the RPE but not in melanosomes of the choroidal melanocytes.

  2012cites this paper
• Melanoregulin, Product of the dsu Locus, Links the BLOC-Pathway and Oa1 in Organelle Biogenesis

  2012cites this paper
• Structural insights into human GPCR protein OA1: a computational perspective

  2012cites this paper
• Adeno-associated virus mediated gene therapy for retinal degenerative diseases.

  2011cites this paper
• [Biogenesis of melanosomes - the chessboard of pigmentation].

  2011cites this paper
• Development of the retina and optic pathway.

  2011cites this paper
• The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function

  2011cites this paper
• L'échiquier pigmentation

  2011cites this paper
• Biogenesis of Melanosomes

  2011cites this paper
• Signaling pathways in melanosome biogenesis and pathology.

  2010cites this paper
• The genetic and evolutionary basis of colour variation in vertebrates

  2010cites this paper
• Preclinical studies on specific gene therapy for recessive retinal degenerative diseases.

  2010cites this paper
• EUROPEAN SCHOOL OF MOLECULAR MEDICINE

  2010cites this paper
• The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition.

  2009cites this paper
• Anatomical profiling of G protein-coupled receptor expression.

  2008cites this paper
• Retinal Function in X-linked Ocular Albinism (OA1)

  2008cites this paper
• MHC II gene knockout in tissue engineering may prevent immune rejection of transplants.

  2008cites this paper
• L-DOPA Is an Endogenous Ligand for OA1

  2008cites this paper
• Hereditary hypo/de‐pigmented dermatoses: An overview

  2008cites this paper
• Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation.

  2008cites this paper
• The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

  2008cites this paper
• Modifying skin pigmentation - approaches through intrinsic biochemistry and exogenous agents.

  2008cites this paper
• UNIVERSITÀ DEGLI STUDI DI NAPOLI “ FEDERICO II ” Scuola di Dottorato in Medicina Molecolare Dottorato di Ricerca in Genetica e Medicina Molecolare OA 1 : AN INTRACELLULAR GPCR INVOLVED IN MEMBRANE TRAFFICKING DURING MELANOSOME BIOGENESIS

  2007cites this paper
• The Evolution of Crossed and Uncrossed Retinal Pathways in Mammals

  2007cites this paper
• The Regulation of Skin Pigmentation*

  2007cites this paper
• New mutations identified in the ocular albinism type 1 gene.

  2007cites this paper
• AAV-mediated gene transfer for retinal diseases

  2006cites this paper
• Proteomic analysis of mature melanosomes from the retinal pigmented epithelium.

  2006cites this paper
• Ocular albinism 1 protein: trafficking and function when expressed in Saccharomyces cerevisiae.

  2006cites this paper
• The ocular albinism type 1 (OA1) gene controls melanosome maturation and size.

  2005cites this paper
• Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer.

  2005cites this paper
• Regional abnormalities in retinal development are associated with local ocular hypopigmentation

  2005cites this paper
• The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis.

  2005cites this paper
• Genetic disorders of pigmentation.

  2005cites this paper
• C URRICULUM V ITAE ET S TUDIORUM

  2004cites this paper
• Animal models for human contiguous gene syndromes and other genomic disorders

  2004cites this paper
• Mutant G-protein-coupled receptors as a cause of human diseases.

  2004cites this paper
• The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis

  2004cites this paper
• The melanosome: dark pigment granule shines bright light on vesicle biogenesis and more.

  2003cites this paper
• Molecular determinants of retinal ganglion cell development, survival, and regeneration.

  2003cites this paper
• Mutational analysis of the OA1 gene in ocular albinism

  2003cites this paper
• New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene

  2002cites this paper
• Genetic animal models for retinal degeneration.

  2002cites this paper
• Effective Retrovirus-Mediated Gene Transfer in Normal and Mutant Human Melanocytes

  2002cites this paper
• Deletion in the OA1 gene in a family with congenital X linked nystagmus

  2001cites this paper
• Human pigmentation genes: identification, structure and consequences of polymorphic variation.

  2001cites this paper
• Intracellular Distribution and Late Endosomal Effects of the Ocular Albinism Type 1 Gene Product: Consequences of Disease‐Causing Mutations and Implications for Melanosome Biogenesis

  2001cites this paper
• Nystagmus

  2001cites this paper
• The melanosome: membrane dynamics in black and white

  2001cites this paper
• Ocular albinism type 1: more than meets the eye.

  2001cites this paper
• Nystagmus

  2000cites this paper
• Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.

  2000cites this paper