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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Choroideremia

TCD, Rep1, Rab escort protein
This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009] (from NCBI)
Top mentioned proteins: CAN, Rab5, HAD, AGE, McA
Papers on TCD
Arabidopsis Rab Geranylgeranyltransferases Demonstrate Redundancy and Broad Substrate Specificity in Vitro.
New
Running et al., Louisville, United States. In J Biol Chem, Feb 2016
We also demonstrate that Arabidopsis Rab-GGTs can not only prenylate a great variety of Rab GTPases in the presence of Rab escort protein but, unlike Rab-GGT in yeast and mammals, can also prenylate certain non-Rab GTPases independently of Rab escort protein.
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
New
Koenekoop et al., Montréal, Canada. In Invest Ophthalmol Vis Sci, Jan 2016
RESULTS: The family segregated a REP1 mutation, suggesting choroideremia (CHM).
Metal-free organic dyes for TiO2 and ZnO dye-sensitized solar cells.
New
Diau et al., Brescia, Italy. In Sci Rep, Dec 2015
Transient photocurrent and photovoltage decay measurements (TCD/TVD) were applied to systematically study the charge transport and recombination kinetics in these devices, showing the electron life time (τR) of B18 dye in ZnO and TiO2 based DSSCs is higher than CPTD-R and BTD-R based DSSCs, which is consistent with the photovoltaic performances.
Differential Effect of MyD88 Signal in Donor T Cells on Graft-versus-Leukemia Effect and Graft-versus-Host Disease after Experimental Allogeneic Stem Cell Transplantation.
New
Min et al., Seoul, South Korea. In Mol Cells, Dec 2015
In the allo-SCT model of C57BL/6 (H-2(b)) → B6D2F1 (H-2(b/d)), recipients received transplants of wild type (WT) T-cell-depleted (TCD) bone marrow (BM) and splenic T cells from either WT or MyD88 deficient (MyD88KO) donors.
Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.
New
Gribaa et al., Sousse, Tunisia. In Ann Biol Clin (paris), Jul 2015
Direct sequencing of the CHM gene detected a guanine to adenine transition (G>A) into the donor splice site of intron 1 leads to aberrantly spliced mRNA producing a premature stop codon and therefore functional loss of the CHM gene product, REP-1.
Gene therapy for choroideremia using an adeno-associated viral (AAV) vector.
Review
New
MacLaren et al., Oxford, United Kingdom. In Cold Spring Harb Perspect Med, Mar 2015
Subsequent identification and characterization of the CHM gene, which encodes Rab escort protein 1 (REP1), has led to better comprehension of the disease and enabled advances in genetic diagnosis.
Functional TCD: regulation of cerebral hemodynamics--cerebral autoregulation, vasomotor reactivity, and neurovascular coupling.
Review
Wolf, Mannheim, Germany. In Front Neurol Neurosci, 2014
Three main mechanisms influence cerebral hemodynamics, with the aim of adapting the cerebral blood flow to the metabolic demand of the brain.
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
Impact
Seabra et al., Oxford, United Kingdom. In Lancet, 2014
BACKGROUND: Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1).
Prenylation defects in inherited retinal diseases.
Review
Siemiatkowska et al., Nijmegen, Netherlands. In J Med Genet, 2014
In addition, there is another class of general prenylation defects due to mutations in proteins such as AIPL1, PDE6D and rab escort protein-1 (REP-1), which can act as chaperones for subsets of prenylated retinal proteins that are associated with IRDs.
[Specific gene therapy for hereditary retinal dystrophies - an update].
Review
Lorenz et al., Gießen, Germany. In Klin Monbl Augenheilkd, 2014
In addition, studies are ongoing for patients with disease causing mutations in the MERTK, REP1, ABCA4, or Myosin7A gene.
[Antiplatelet therapy: update in secondary stroke prevention].
Review
Uchiyama, Tokyo, Japan. In Brain Nerve, 2013
Meta-analysis of the CARESS and CLAIR studies showed a significant reduction of microembolic signals (MES) on transcranial Doppler (TCD) monitoring by dual antiplatelet therapy (DAPT) with aspirin and clopidogrel than treatment with aspirin alone in patients who experienced a transient ischemic attack (TIA) or stroke with extra- or intracranial artery stenosis and MES positivity.
Quantitative analysis of transcript variants of CHM gene containing LTR12C element in humans.
GeneRIF
Kim et al., Pusan, South Korea. In Gene, 2012
It is suggested that expression levels of alternative transcripts of the CHM gene could be used as a molecular marker system to identify human cancers.
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
GeneRIF
Salvatore et al., Napoli, Italy. In Hum Mutat, 2011
We identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated with CHM that prevents REP1-Rab geranylgeranyl transferase interaction.
Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia.
GeneRIF
Sui et al., Beijing, China. In Mol Vis, 2011
In Mainland Chinese families, the central visual acuity of male patients with CHM can be affected at an early age (second decade), whereas female CHM carriers may manifest signs and symptoms at a later age (>/= 45 years).
Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.
GeneRIF
Liu et al., Guangzhou, China. In Mol Vis, 2010
A novel mutation was detected in CHM gene in family 1. Another mutation within exon 14 of CHM was identified in family 2. The mutations caused night blindness, chorioretinal atrophy, and bareness of the sclera.
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.
Impact
Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium et al., Rochester, United States. In Jama, 2006
OBJECTIVE: To determine whether allele-length variability in the dinucleotide repeat sequence (REP1) of the SNCA gene promoter is associated with Parkinson disease susceptibility, whether SNCA promoter haplotypes are associated with Parkinson disease, and whether REP1 variability modifies age at onset.
The t complex-encoded GTPase-activating protein Tagap1 acts as a transmission ratio distorter in mice.
Impact
Herrmann et al., Berlin, Germany. In Nat Genet, 2005
Overexpression of wild-type Tagap1 in sperm cells phenocopied Tcd function, whereas a loss-of-function Tagap1 allele reduced the transmission rate of the t6 haplotype.
Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease.
Impact
GeneRIF
Alexandrov et al., Dortmund, Germany. In Cell, 2004
The C terminus of the REP-1 molecule functions as a mobile lid covering a conserved hydrophobic patch on the surface of REP-1 that in the complex coordinates the C terminus of Rab proteins.
Transmission ratio distortion in mice.
Review
Impact
Lyon, Didcot, United Kingdom. In Annu Rev Genet, 2002
The TRD produced by the t-complex is due to the action of three or more distorter genes (Tcd) on a responder gene (Tcr).
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