Affinage

PDE6B

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta · UniProt P35913

Length
854 aa
Mass
98.3 kDa
Annotated
2026-06-10
100 papers in source corpus 11 papers cited in narrative 11 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PDE6B encodes the beta catalytic subunit of rod photoreceptor cGMP phosphodiesterase, the effector enzyme of the phototransduction cascade that hydrolyzes cGMP to terminate the light response (PMID:20940301). The PDE6B catalytic domain is enzymatically equivalent to PDE6A—reconstituted chimeric homodimers hydrolyze cGMP with comparable Km and kcat and are similarly inhibited by the regulatory Pγ subunit and activated by transducin-α—with the rod PDE6A/PDE6B heterodimer distinguished from cone PDE6C chiefly by its requirement for higher transducin concentrations for activation (PMID:20940301). Loss-of-function mutations in PDE6B cause autosomal recessive retinitis pigmentosa in humans and analogous retinal degenerations in dogs, with disease-causing nonsense, frameshift, splice, and missense alleles identified across multiple families and breeds (PMID:8595886, PMID:11124530, PMID:24045995, PMID:18854872). Failure to hydrolyze cGMP keeps cGMP-gated channels open, producing calcium overload that drives a cascade of downstream effectors—constitutive CaMKII activation with aberrant phosducin hyperphosphorylation (PMID:16253986), calpain protease activation with reduced calpastatin (PMID:16405498), class I/II HDAC overactivation that precedes cell death (PMID:21364632), and early mitochondrial structural and metabolic disruption (PMID:35075486)—that collectively execute photoreceptor apoptosis. In contrast, the gain-of-function H258N mutation increases cGMP hydrolysis ~3-fold by blocking Pγ inhibition and causes congenital stationary night blindness rather than progressive degeneration (PMID:17044014). AAV-mediated PDE6B gene replacement restores both the photoreceptor a-wave and the bipolar-cell b-wave when confounding secondary mutations are absent (PMID:25613321).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 1995 Medium

    Establishing PDE6B as a human disease gene answered whether mutations in the rod PDE beta subunit are causative for inherited retinal degeneration.

    Evidence DGGE/SSCP screening and sequencing of all 22 exons with cosegregation in two arRP families carrying compound heterozygous mutations

    PMID:8595886

    Open questions at the time
    • No functional demonstration of how each allele impairs cGMP hydrolysis
    • Single lab, two families
  2. 2000 Medium

    A null frameshift allele cosegregating with canine gPRA confirmed PDE6B loss-of-function as causative across species and validated a large-animal model.

    Evidence SSCP and cosegregation analysis in a Sloughi pedigree plus exclusion in 11 other breeds

    PMID:11124530

    Open questions at the time
    • No biochemical characterization of the truncated protein
    • Breed-specific allele
  3. 2005 Medium

    Identifying aberrant phosducin hyperphosphorylation and constitutive CaMKII activation began to define the calcium-driven signaling consequences of PDE6B loss.

    Evidence 2D-gel proteomics, mass spectrometry, phospho-immunoblotting and IHC with light/dark adaptation in rd1 versus wild-type mice

    PMID:16253986

    Open questions at the time
    • Link to elevated calcium inferred, not directly perturbed
    • Causal role in cell death not tested
  4. 2006 Medium

    Demonstrating calpain activation downstream of calcium overload identified a protease effector arm of the degeneration pathway.

    Evidence In situ enzymatic calpain assay with calpastatin measurement and pharmacological calpain inhibition in rd1 retinas

    PMID:16405498

    Open questions at the time
    • Inhibition reduced activity but rescue of cell survival not quantified here
    • Calpain substrates in photoreceptors not identified
  5. 2007 High

    The H258N transgenic model resolved why one PDE6B allele causes stationary night blindness rather than progressive RP—by showing a gain-of-function increase in cGMP hydrolysis.

    Evidence Transgenic mice with dark-adapted cGMP-PDE enzymatic assays, ERG, and histology

    PMID:17044014

    Open questions at the time
    • Structural basis of impaired Pγ inhibition not resolved
    • Mechanism of selective b-wave loss not detailed
  6. 2010 High

    In vitro reconstitution of chimeric catalytic domains established that PDE6A and PDE6B are catalytically equivalent and that the rod enzyme differs from cone PDE6 in transducin interaction, not catalysis or Pγ regulation.

    Evidence Transgenic Xenopus expression of EGFP-PDE6C-A/-B chimeras with kinetic (Km, kcat), Pγ inhibition, and transducin activation assays

    PMID:20940301

    Open questions at the time
    • Structural basis of the transducin interaction difference unknown
    • Behavior of the native A/B heterodimer versus chimeric homodimers
  7. 2010 Medium

    Showing HDAC class I/II overactivation preceding cell death and rescuable by HDAC inhibition placed epigenetic dysregulation within the degeneration cascade.

    Evidence Custom in situ HDAC activity assay, histone acetylation IHC, and pharmacological HDAC inhibition in rd1 organotypic explants with PARP and TUNEL readouts

    PMID:21364632

    Open questions at the time
    • Specific HDAC isoform and target genes not identified
    • Connection to upstream calcium signaling not directly tested
  8. 2013 Medium

    A canine exon-21 deletion causing early-onset rod and cone degeneration extended the disease spectrum of PDE6B mutations to early structural photoreceptor defects.

    Evidence GWAS mapping to CFA3, candidate sequencing, and retinal morphology in American Staffordshire Terriers

    PMID:24045995

    Open questions at the time
    • Why a rod-PDE gene defect affects cone segments not mechanistically explained
    • No biochemical assay of the mutant protein
  9. 2015 High

    AAV gene replacement demonstrated PDE6B therapeutic rescue and clarified that a confounding Gpr179 mutation, not the therapy, limited bipolar-cell recovery.

    Evidence AAV-PDE6B supplementation in rd1 mice with a- and b-wave ERG, genetic backcrossing to remove Gpr179, and 13-month longitudinal follow-up

    PMID:25613321

    Open questions at the time
    • Durability and dosing in larger eyes not addressed
    • Therapeutic window relative to degeneration stage not defined
  10. 2022 High

    Pre-degeneration multiomics established that mitochondrial stress and metabolic disruption are early drivers, not late consequences, of PDE6B loss.

    Evidence RNA-seq, proteomics, metabolomics, transmission EM, and ex vivo oxygen consumption in neonatal/developing rd1 rods before degeneration onset

    PMID:35075486

    Open questions at the time
    • Causal sequence from calcium signaling to mitochondrial failure not directly perturbed
    • Whether metabolic intervention prevents degeneration not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the parallel calcium-dependent effector arms (CaMKII/phosducin, calpain, HDAC, mitochondrial/metabolic) are causally ordered and integrated into the final apoptotic decision remains unresolved.
  • No epistatic test ranking the effector pathways
  • No structural model of the PDE6A/PDE6B/Pγ/transducin assembly in the timeline
  • Translation of combined-pathway intervention to therapy unexplored

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016787 hydrolase activity 2 GO:0140098 catalytic activity, acting on RNA 2
Pathway
R-HSA-9709957 Sensory Perception 3 R-HSA-162582 Signal Transduction 1
Partners
GNAT1PDE6APDE6G
Complex memberships
Rod cGMP phosphodiesterase 6 (PDE6) holoenzyme

Evidence

Reading pass · 11 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2010 PDE6A and PDE6B catalytic subunits are enzymatically equivalent: chimeric homodimeric enzymes containing the PDE6A or PDE6B catalytic domain (expressed in transgenic Xenopus laevis) hydrolyzed cGMP with similar Km (~20–23 µM) and kcat (~4200–5100 s⁻¹) values, and were similarly inhibited by both cone- and rod-specific Pγ subunits. Both were fully activated by recombinant cone transducin-α and native rod Gαt1. In contrast, bovine rod PDE6 heterodimer required markedly higher transducin concentrations for half-maximal activation, indicating the PDE6A/PDE6B heterodimer differs from PDE6C homodimers specifically in its interaction with transducin, not in its catalytic properties or Pγ interactions. Transgenic Xenopus laevis expression of chimeric EGFP-PDE6C-A and EGFP-PDE6C-B; selective immunoprecipitation; in vitro cGMP hydrolysis assays; kinetic analysis (Km, kcat); inhibition assays with Pγ subunits; activation assays with Gαt1 and Gαt2 The Journal of biological chemistry High 20940301
2007 The H258N missense mutation in PDE6B causes congenital stationary night blindness (CSNB) rather than progressive retinitis pigmentosa. Transgenic mice carrying H258N showed an approximately 3-fold increase in cGMP hydrolysis rate (from 130.1 to 319.2 nmol·min⁻¹·nmol⁻¹ rhodopsin in dark-adapted retinas), consistent with the hypothesis that the H258N mutation blocks inhibition of PDE6B activity by the regulatory PDE6γ subunit. ERG phenotype (selective loss of b-wave with relatively normal a-wave) mirrored that of human CSNB patients. Transgenic mouse generation (H258N allele); dark-adapted cGMP-PDE6 enzymatic activity assay on retinal homogenates; electroretinography; histology and photoreceptor cell counting Human mutation High 17044014
2005 In rd1 mouse retinas, phosducin (a regulator of G-protein signaling in photoreceptors) shows aberrant hyperphosphorylation irrespective of light/dark status, in contrast to wild-type retinas where phosducin is highly phosphorylated only in the dark. This hyperphosphorylation coincides with constitutive activation of Ca²⁺/calmodulin-dependent protein kinase II (CaMKII) in rd1 rod outer segments. The elevated CaMKII activity is consistent with the known increase in intracellular calcium caused by the Pde6b mutation (failure to hydrolyze cGMP → persistent opening of cGMP-gated channels → Ca²⁺ overload), implicating CaMKII overactivation as an early step in photoreceptor degeneration. 2D gel electrophoresis proteomics; mass spectrometry protein identification; immunoblotting with phospho-specific antibodies; immunohistochemistry; light/dark adaptation experiments in rd1 and wild-type mice Molecular & cellular proteomics : MCP Medium 16253986
2006 Calpain protease is activated in degenerating rd1 photoreceptors at postnatal day 13, coinciding with peak photoreceptor cell death. Calpastatin (endogenous calpain inhibitor) expression is reduced in rd1 retinas, while calpain activity is substantially elevated, demonstrable by an enzymatic in situ assay. Calpain-specific inhibitors decreased calpain activity in situ, implicating calcium-dependent calpain activation as a mediator of photoreceptor cell death downstream of the elevated intracellular Ca²⁺ caused by loss of PDE6B-mediated cGMP hydrolysis. Microarray transcriptome analysis; immunofluorescence; immunoblotting; in situ enzymatic calpain activity assay; pharmacological inhibition with calpain inhibitors Journal of neurochemistry Medium 16405498
2015 A confounding mutation in Gpr179 (encoding a G-protein coupled receptor on ON-bipolar cell dendrites) in the rd1 mouse strain prevents full restoration of the ERG b-wave after AAV-mediated PDE6B gene supplementation. After backcrossing rd1 mice onto a C57BL/6 background to eliminate the Gpr179 mutation, gene replacement of PDE6B restored both the photoreceptor-mediated a-wave and the bipolar cell-mediated b-wave, with preservation for up to 13 months. This demonstrates that PDE6B gene therapy can rescue both photoreceptor function and downstream bipolar cell signaling when no secondary mutations are present. AAV-mediated gene therapy in rd1 mice; electroretinography (a-wave and b-wave measurement); genetic backcrossing; Sanger sequencing/genotyping for Gpr179 mutation; in vivo longitudinal follow-up Nature communications High 25613321
1995 Two probands with autosomal recessive retinitis pigmentosa were found to carry compound heterozygous mutations in the PDE6B gene: one with Gly576Asp and His620(1-bp deletion), the other with Lys706X (nonsense) and an AG→AT splice acceptor site mutation in intron 2. These are the first mutations in the human PDE6B gene established as causative for autosomal recessive RP, confirming PDE6B as a disease gene for this condition. Haplotype analysis with dinucleotide repeat polymorphism; DGGE and SSCP electrophoresis of all 22 PDE6B exons; DNA sequencing; cosegregation analysis in families Genomics Medium 8595886
2000 A null mutation (8-bp insertion after codon 816) in the PDE6B gene cosegregates with generalized progressive retinal atrophy (gPRA) in Sloughi dogs, establishing PDE6B mutation as the cause of this canine retinal degeneration. PDE6B was excluded as a candidate gene for gPRA in 11 other dog breeds by detecting heterozygous allele constellations in affected animals. Genomic library isolation of canine PDE6B; SSCP analysis; cosegregation analysis in a large Sloughi pedigree; exclusion analysis in 11 other breeds Cytogenetics and cell genetics Medium 11124530
2013 A 3-base deletion in exon 21 of canine PDE6B causes early-onset retinal degeneration (crd1) in American Staffordshire Terriers, with structural photoreceptor abnormalities detectable as early as 11 weeks of age affecting both rod and cone inner and outer segments. This was identified by GWAS mapping to CFA3 followed by candidate gene sequencing. GWAS with Illumina Canine SNP array; candidate gene sequencing; retinal morphology by light microscopy; PLINK association analysis Investigative ophthalmology & visual science Medium 24045995
2022 Multiomics analysis of neonatal and developing Pde6brd1/rd1 rods before the onset of degeneration revealed early downregulation of anabolic and energy metabolism genes, early changes in calcium signaling and oxidative phosphorylation (with specific partial bypass of complex I electron transfer), and dysregulation of glycolysis, pentose phosphate, and purine biosynthesis pathways. Transmission electron microscopy and ex vivo oxygen consumption assays validated progressive mitochondrial structural abnormalities and functional deficits in rd1 rods. Aberrant calcium signaling is implicated as an initiator of mitochondrial stress, establishing mitochondrial damage and metabolic disruption as early drivers of photoreceptor cell death caused by PDE6B loss. Transcriptome profiling (RNA-seq) of neonatal/developing rods; quantitative proteomics; metabolomics; transmission electron microscopy; ex vivo oxygen consumption assays; temporal analysis before onset of degeneration Human molecular genetics High 35075486
2010 HDAC class I/II overactivation temporally precedes photoreceptor degeneration in rd1 retinas. Using a custom in situ HDAC activity assay, histone acetylation was found dramatically reduced in degenerating rd1 photoreceptors. Pharmacological inhibition of HDAC I/II activity in rd1 organotypic retinal explants decreased PARP activity and strongly reduced photoreceptor cell death, establishing excessive HDAC activation as a mechanistically important step in the cell death pathway downstream of PDE6B loss. Custom in situ HDAC activity assay; immunofluorescence for histone acetylation; pharmacological HDAC I/II inhibition in organotypic retinal explants; PARP activity assay; TUNEL cell death quantification Cell death & disease Medium 21364632
2008 A missense mutation p.W807R in the PDE6B gene was identified and shown to cosegregate with autosomal recessive retinitis pigmentosa in a consanguineous Tunisian family, distinct from USH2 syndrome in the same family caused by a GPR98 mutation. This demonstrates that W807R in PDE6B is a pathogenic variant causing non-syndromic arRP. Linkage analysis with flanking PDE6B markers (D4S3360 and D4S2930); molecular sequencing; cosegregation analysis in an extended consanguineous family European journal of human genetics : EJHG Medium 18854872

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Loss of RD1 contributed to the attenuation of the live tuberculosis vaccines Mycobacterium bovis BCG and Mycobacterium microti. Molecular microbiology 570 12410828
2002 Deletion of RD1 from Mycobacterium tuberculosis mimics bacille Calmette-Guérin attenuation. The Journal of infectious diseases 464 12508154
2004 A mycobacterial virulence gene cluster extending RD1 is required for cytolysis, bacterial spreading and ESAT-6 secretion. Molecular microbiology 330 15341647
2017 Microglia Polarization with M1/M2 Phenotype Changes in rd1 Mouse Model of Retinal Degeneration. Frontiers in neuroanatomy 199 28928639
2000 Antigenic equivalence of human T-cell responses to Mycobacterium tuberculosis-specific RD1-encoded protein antigens ESAT-6 and culture filtrate protein 10 and to mixtures of synthetic peptides. Infection and immunity 163 10816479
2005 A non-RD1 gene cluster is required for Snm secretion in Mycobacterium tuberculosis. Molecular microbiology 154 16135231
2017 iPSC-Derived Retina Transplants Improve Vision in rd1 End-Stage Retinal-Degeneration Mice. Stem cell reports 143 28076757
2012 Long-term characterization of retinal degeneration in rd1 and rd10 mice using spectral domain optical coherence tomography. Investigative ophthalmology & visual science 123 22562504
2011 Rv3615c is a highly immunodominant RD1 (Region of Difference 1)-dependent secreted antigen specific for Mycobacterium tuberculosis infection. Proceedings of the National Academy of Sciences of the United States of America 121 21427227
2006 Calpain is activated in degenerating photoreceptors in the rd1 mouse. Journal of neurochemistry 113 16405498
1993 Engineered deletion of the unique N-terminal domain of the cyclic AMP-specific phosphodiesterase RD1 prevents plasma membrane association and the attainment of enhanced thermostability without altering its sensitivity to inhibition by rolipram. The Biochemical journal 113 7686364
2010 Excessive HDAC activation is critical for neurodegeneration in the rd1 mouse. Cell death & disease 110 21364632
2001 A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (Pdeb(rd1)) in FVB/N-derived transgenic mice. Laboratory animals 106 11315164
1995 Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics 106 8595886
2004 The RD1 virulence locus of Mycobacterium tuberculosis regulates DNA transfer in Mycobacterium smegmatis. Proceedings of the National Academy of Sciences of the United States of America 103 15314236
2004 Proliferation of microglia, but not photoreceptors, in the outer nuclear layer of the rd-1 mouse. Investigative ophthalmology & visual science 98 14985319
2011 Developmental time course distinguishes changes in spontaneous and light-evoked retinal ganglion cell activity in rd1 and rd10 mice. Journal of neurophysiology 96 21389300
2003 The RD1 proteins of Mycobacterium tuberculosis: expression in Mycobacterium smegmatis and biochemical characterization. Microbes and infection 94 14554249
2003 PPE protein (Rv3873) from DNA segment RD1 of Mycobacterium tuberculosis: strong recognition of both specific T-cell epitopes and epitopes conserved within the PPE family. Infection and immunity 94 14573626
1995 Identification and characterization of the type-IVA cyclic AMP-specific phosphodiesterase RD1 as a membrane-bound protein expressed in cerebellum. The Biochemical journal 85 7702577
2004 Cell envelope protein PPE68 contributes to Mycobacterium tuberculosis RD1 immunogenicity independently of a 10-kilodalton culture filtrate protein and ESAT-6. Infection and immunity 81 15039340
2015 Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179. Nature communications 79 25613321
2006 CNTF+BDNF treatment and neuroprotective pathways in the rd1 mouse retina. Brain research 77 17156753
2005 Evidence for glutamate-mediated excitotoxic mechanisms during photoreceptor degeneration in the rd1 mouse retina. Molecular vision 74 16163266
2005 Genotype-phenotype correlation of mouse pde6b mutations. Investigative ophthalmology & visual science 72 16123450
2005 Selected RD1 peptides for active tuberculosis diagnosis: comparison of a gamma interferon whole-blood enzyme-linked immunosorbent assay and an enzyme-linked immunospot assay. Clinical and diagnostic laboratory immunology 72 16275946
2004 Genomic interrogation of the dassie bacillus reveals it as a unique RD1 mutant within the Mycobacterium tuberculosis complex. Journal of bacteriology 71 14679230
2014 Intrinsic bursting of AII amacrine cells underlies oscillations in the rd1 mouse retina. Journal of neurophysiology 70 25008417
2011 IP-10 response to RD1 antigens might be a useful biomarker for monitoring tuberculosis therapy. BMC infectious diseases 70 21595874
2008 Role of M. tuberculosis RD-1 region encoded secretory proteins in protective response and virulence. Tuberculosis (Edinburgh, Scotland) 68 18640874
2009 Behavioral validation of the Ts65Dn mouse model for Down syndrome of a genetic background free of the retinal degeneration mutation Pde6b(rd1). Behavioural brain research 67 19720087
2007 Activation of endoplasmic reticulum stress in degenerating photoreceptors of the rd1 mouse. Investigative ophthalmology & visual science 67 17962473
2004 Evaluation of T-cell responses to novel RD1- and RD2-encoded Mycobacterium tuberculosis gene products for specific detection of human tuberculosis infection. Infection and immunity 66 15102765
2001 Physiological ecology of Clostridium glycolicum RD-1, an aerotolerant acetogen isolated from sea grass roots. Applied and environmental microbiology 65 11571179
2003 The refined crystal structure of an eel pout type III antifreeze protein RD1 at 0.62-A resolution reveals structural microheterogeneity of protein and solvation. Biophysical journal 62 12547803
2017 Tropism of engineered and evolved recombinant AAV serotypes in the rd1 mouse and ex vivo primate retina. Gene therapy 60 28872643
2013 Review: the history and role of naturally occurring mouse models with Pde6b mutations. Molecular vision 60 24367157
2007 Response to region of difference 1 (RD1) epitopes in human immunodeficiency virus (HIV)-infected individuals enrolled with suspected active tuberculosis: a pilot study. Clinical and experimental immunology 60 17680823
2001 Immunological characterization of antigens encoded by the RD1 region of the Mycobacterium tuberculosis genome. Scandinavian journal of immunology 59 11696195
2001 Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa. Molecular vision 58 11239245
2007 Isoniazid prophylaxis differently modulates T-cell responses to RD1-epitopes in contacts recently exposed to Mycobacterium tuberculosis: a pilot study. Respiratory research 56 17257436
2005 Intravitreous injection of PLGA microspheres encapsulating GDNF promotes the survival of photoreceptors in the rd1/rd1 mouse. Molecular vision 55 16319820
2000 Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenetics and cell genetics 54 11124530
2014 Network oscillations drive correlated spiking of ON and OFF ganglion cells in the rd1 mouse model of retinal degeneration. PloS one 53 24489706
2009 The RD1 locus in the Mycobacterium tuberculosis genome contributes to activation of caspase-1 via induction of potassium ion efflux in infected macrophages. Infection and immunity 52 19596775
2005 Differential modification of phosducin protein in degenerating rd1 retina is associated with constitutively active Ca2+/calmodulin kinase II in rod outer segments. Molecular & cellular proteomics : MCP 52 16253986
2008 Efficient testing of large pools of Mycobacterium tuberculosis RD1 peptides and identification of major antigens and immunodominant peptides recognized by human Th1 cells. Clinical and vaccine immunology : CVI 51 18400977
2007 Cellular responses to photoreceptor death in the rd1 mouse model of retinal degeneration. Investigative ophthalmology & visual science 50 17251487
2002 Immunogenicity of Mycobacterium tuberculosis RD1 region gene products in infected cattle. Clinical and experimental immunology 49 12296851
2016 Carnosic acid slows photoreceptor degeneration in the Pde6b(rd10) mouse model of retinitis pigmentosa. Scientific reports 48 26961159
2015 Blockade of pathological retinal ganglion cell hyperactivity improves optogenetically evoked light responses in rd1 mice. Frontiers in cellular neuroscience 47 26379501
2011 Spontaneous Oscillatory Rhythm in Retinal Activities of Two Retinal Degeneration (rd1 and rd10) Mice. The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology 47 22359480
2008 Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. European journal of human genetics : EJHG 47 18854872
1999 Identification of a novel protein antigen encoded by a Mycobacterium tuberculosis-specific RD1 region gene. Scandinavian journal of immunology 46 10320645
2010 Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent. The Journal of biological chemistry 43 20940301
2016 Neural stem cells transplanted to the subretinal space of rd1 mice delay retinal degeneration by suppressing microglia activation. Cytotherapy 42 27067610
2018 DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice. Cell death & disease 40 29472543
2010 Do calcium channel blockers rescue dying photoreceptors in the Pde6b ( rd1 ) mouse? Advances in experimental medicine and biology 40 20238051
2006 FVB.129P2-Pde6b(+) Tyr(c-ch)/Ant, a sighted variant of the FVB/N mouse strain suitable for behavioral analysis. Genes, brain, and behavior 40 17083330
1998 Identification and characterization of the human homologue of the short PDE4A cAMP-specific phosphodiesterase RD1 (PDE4A1) by analysis of the human HSPDE4A gene locus located at chromosome 19p13.2. The Biochemical journal 40 9677330
2019 Rescue of Retinal Degeneration in rd1 Mice by Intravitreally Injected Metformin. Frontiers in molecular neuroscience 39 31080404
2013 IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Investigative ophthalmology & visual science 39 24045995
2011 Retinal ganglion cell responses to voltage and current stimulation in wild-type and rd1 mouse retinas. Journal of neural engineering 39 21593549
2022 Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration. Human molecular genetics 38 35075486
2007 Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Human mutation 38 17044014
2008 Response to M. tuberculosis selected RD1 peptides in Ugandan HIV-infected patients with smear positive pulmonary tuberculosis: a pilot study. BMC infectious diseases 37 18226199
2013 PdeB, a cyclic Di-GMP-specific phosphodiesterase that regulates Shewanella oneidensis MR-1 motility and biofilm formation. Journal of bacteriology 36 23794617
2012 Functional integrity and modification of retinal dopaminergic neurons in the rd1 mutant mouse: roles of melanopsin and GABA. Journal of neurophysiology 32 23255724
2009 Utility of a combination of RD1 and RD2 antigens as a diagnostic marker for tuberculosis. Diagnostic microbiology and infectious disease 31 19833469
2005 Does GDNF exert its neuroprotective effects on photoreceptors in the rd1 retina through the glial glutamate transporter GLAST? Molecular vision 30 16163265
2021 Long-term effects of human induced pluripotent stem cell-derived retinal cell transplantation in Pde6b knockout rats. Experimental & molecular medicine 29 33828232
2006 Up-regulation and increased phosphorylation of protein kinase C (PKC) delta, mu and theta in the degenerating rd1 mouse retina. Molecular and cellular neurosciences 28 16503160
2005 Effects of the rd1 mutation and host strain on hippocampal learning in mice. Behavior genetics 28 16184487
1997 Intracellular localization of the PDE4A cAMP-specific phosphodiesterase splice variant RD1 (RNPDE4A1A) in stably transfected human thyroid carcinoma FTC cell lines. The Biochemical journal 28 9003417
2007 Single-stranded oligonucleotide-mediated in vivo gene repair in the rd1 retina. Molecular vision 27 17563719
2016 Single residue AAV capsid mutation improves transduction of photoreceptors in the Abca4-/- mouse and bipolar cells in the rd1 mouse and human retina ex vivo. Gene therapy 26 27416076
2005 Differential Akt activation in the photoreceptors of normal and rd1 mice. Cell and tissue research 26 15789220
2019 Development of a Pde6b Gene Knockout Rat Model for Studies of Degenerative Retinal Diseases. Investigative ophthalmology & visual science 25 31009522
2014 Different effects of valproic acid on photoreceptor loss in Rd1 and Rd10 retinal degeneration mice. Molecular vision 25 25489226
1992 The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. American journal of human genetics 24 1329504
2014 Utility of B-cell epitopes based peptides of RD1 and RD2 antigens for immunodiagnosis of pulmonary tuberculosis. Diagnostic microbiology and infectious disease 23 24485599
2008 Whole blood assays to identify Th1 cell antigens and peptides encoded by Mycobacterium tuberculosis-specific RD1 genes. Medical principles and practice : international journal of the Kuwait University, Health Science Centre 23 18408395
2021 Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa. International journal of molecular sciences 22 33673512
2019 The GGDEF Domain of the Phosphodiesterase PdeB in Shewanella putrefaciens Mediates Recruitment by the Polar Landmark Protein HubP. Journal of bacteriology 22 30670544
2015 Variable phenotypic expressivity in inbred retinal degeneration mouse lines: A comparative study of C3H/HeOu and FVB/N rd1 mice. Molecular vision 22 26283863
2005 rd1 mouse retina shows imbalance in cellular distribution and levels of TIMP-1/MMP-9, TIMP-2/MMP-2 and sulfated glycosaminoglycans. Ophthalmic research 22 16374054
2015 Impact of Mycobacterium tuberculosis RD1-locus on human primary dendritic cell immune functions. Scientific reports 21 26602835
2014 Cyr61 activates retinal cells and prolongs photoreceptor survival in rd1 mouse model of retinitis pigmentosa. Journal of neurochemistry 21 24593181
1994 Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. Human molecular genetics 20 8004102
2023 Alleviation of Photoreceptor Degeneration Based on Fullerenols in rd1 Mice by Reversing Mitochondrial Dysfunction via Modulation of Mitochondrial DNA Transcription and Leakage. Small (Weinheim an der Bergstrasse, Germany) 19 37407519
2006 An in-house RD1-based enzyme-linked immunospot-gamma interferon assay instead of the tuberculin skin test for diagnosis of latent Mycobacterium tuberculosis infection. Journal of clinical microbiology 19 16757583
2006 Classical complement activation and acquired immune response pathways are not essential for retinal degeneration in the rd1 mouse. Experimental eye research 19 17069800
2019 Spatio-temporal characterization of S- and M/L-cone degeneration in the Rd1 mouse model of retinitis pigmentosa. BMC neuroscience 18 31481030
2017 Activation of liver X receptor delayed the retinal degeneration of rd1 mice through modulation of the immunological function of glia. Oncotarget 18 28404878
2008 rd1 Mouse retina shows an imbalance in the activity of cysteine protease cathepsins and their endogenous inhibitor cystatin C. Investigative ophthalmology & visual science 18 18326735
2006 Identification of transcriptionally active open reading frames within the RD1 genomic segment of Mycobacterium tuberculosis. Medical principles and practice : international journal of the Kuwait University, Health Science Centre 18 16484842
2003 Human T-cell responses to the RD1-encoded protein TB27.4 (Rv3878) from Mycobacterium tuberculosis. Immunology 17 14632649
2014 Spontaneous oscillatory activity in rd1 mouse retina is transferred from ON pathway to OFF pathway via glycinergic synapse. Journal of neurophysiology 16 25355966
2018 Lutein and Zeaxanthin Isomers Reduce Photoreceptor Degeneration in the Pde6b Mouse Model of Retinitis Pigmentosa. BioMed research international 15 30643804
2008 Enzymatic characteristics of two novel Myxococcus xanthus enzymes, PdeA and PdeB, displaying 3',5'- and 2',3'-cAMP phosphodiesterase, and phosphatase activities. FEBS letters 15 19114044

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