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Retinal Degenerative Diseases

Retinal Degenerative Diseases

Joe G. Hollyfield, Robert E. Anderson, Matthew M LaVail

 

Verlag Springer-Verlag, 2007

ISBN 9780387324425 , 557 Seiten

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PREFACE

7

ABOUT THE EDITORS

9

CONTENTS

12

MOLECULAR GENETICS AND CANDIDATE GENES

22

GENETIC FACTORS MODIFYING CLINICAL EXPRESSION OF AUTOSOMAL DOMINANT RP

23

DISEASE-ASSOCIATED VARIANTS OF THE ROD-DERIVED CONE VIABILITY FACTOR ( RdCVF) IN LEBER CONGENITAL AMAUROSIS

29

LEBER CONGENITAL AMAUROSIS: SURVEY OF THE GENETIC HETEROGENEITY, REFINEMENT OF THE CLINICAL DEFINITION AND PHENOTYPE- GENOTYPE CORRELATIONS AS A STRATEGY FOR MOLECULAR DIAGNOSIS

35

A FIRST LOCUS FOR ISOLATED AUTOSOMAL RECESSIVE OPTIC ATROPHY ( ROA1) MAPS TO CHROMOSOME 8q21- q22

41

RCC1-LIKE DOMAIN AND ORF15: ESSENTIALS IN RPGR GENE

48

CHOROIDAL NEOVASCULARIZATION IN PATIENTS WITH ADULT- ONSET FOVEOMACULAR DYSTROPHY CAUSED BY MUTATIONS IN THE RDS/ PERIPHERIN GENE

53

BIOCHEMICAL CHARACTERISATION OF THE C1QTNF5 GENE ASSOCIATED WITH LATE- ONSET RETINAL DEGENERATION

59

BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY ASSOCIATED WITH CYP4V2 GENE MUTATIONS

67

DIAGNOSTIC, CLINICAL, CYTOPATHOLOGICAL AND PHYSIOLOGIC ASPECTS OF RETINAL DEGENERATION

72

FUNDUS APPEARANCE OF CHOROIDEREMIA USING OPTICAL COHERENCE TOMOGRAPY

73

A2E, A FLUOROPHORE OF RPE LIPOFUSCIN, CAN DESTABILIZE MEMBRANE

78

AMINO-RETINOID COMPOUNDS IN THE HUMAN RETINAL PIGMENT EPITHELIUM

84

ANNEXINS IN BRUCH’S MEMBRANE AND DRUSEN

90

ANIMAL MODELS OF RETINAL DEGENERATION

94

MOLECULAR MECHANISMS OF PHOTORECEPTOR DEGENERATION IN RP CAUSED BY IMPDH1 MUTATIONS

95

BIOCHEMICAL FUNCTION OF THE LCA LINKED PROTIEN, ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE– 1 ( AIPL1)

102

CHARACTERIZATION OF MOUSE MUTANTS WITH ABNORMAL RPE CELLS

108

ROD AND CONE PIGMENT REGENERATION IN RPE65-/- MICE

114

INITIAL OBSERVATIONS OF KEY FEATURES OF AGE- RELATED MACULAR DEGENERATION IN APOE TARGETED REPLACEMENT MICE

121

ALTERED RHYTHM OF PHOTORECEPTOR OUTER SEGMENT PHAGOCYTOSIS IN b5 INTEGRIN KNOCKOUT MICE

130

LIGHT/DARK TRANSLOCATION OF ALPHATRANSDUCIN IN MOUSE PHOTORECEPTOR CELLS EXPRESSING G90D MUTANT OPSIN

135

SLOWED PHOTORESPONSE RECOVERY AND AGE- RELATED DEGENERATION IN CONES LACKING G PROTEIN- COUPLED RECEPTOR KINASE 1

142

TRANSGENIC ANIMAL STUDIES OF HUMAN RETINAL DISEASE CAUSED BY MUTATIONS IN PERIPHERIN/ RDS

149

TRANSGENIC EXPRESSION OF LEUKEMIA INHIBITORY FACTOR INHIBITS BOTH ROD AND CONE GENE EXPRESSION

155

A ROLE FOR BHLH TRANSCRIPTION FACTORS IN RETINAL DEGENERATION AND DYSFUNCTION

162

CHARACTERISATION OF A MODEL FOR RETINAL NEOVASCULARISATION

169

A TWO-ALTERNATIVE, FORCED CHOICE METHOD FOR ASSESSING MOUSE VISION

175

CONDITIONAL GENE KNOCKOUT SYSTEM IN CONE PHOTORECEPTORS

179

REGULATION OF TIGHT JUNCTION PROTEINS IN CULTURED RETINAL PIGMENT EPITHELIAL CELLS AND IN VEGF OVEREXPRESSING TRANSGENIC MOUSE RETINAS

185

PATHOLOGICAL HETEROGENEITY OF VASOPROLIFERATIVE RETINOPATHY IN TRANSGENIC MICE OVEREXPRESSING VASCULAR ENDOTHELIAL GROWTH FACTOR IN PHOTORECEPTORS

192

LASER PHOTOCOAGULATION: OCULAR RESEARCH AND THERAPY IN DIABETIC RETINOPATHY

199

APPLYING TRANSGENIC ZEBRAFISH TECHNOLOGY TO STUDY THE RETINA

205

BMI1 LOSS DELAYS PHOTORECEPTOR DEGENERATION IN RD1 MICE

212

TRANSCRIPTIONAL AND POST-TRANSCRIPTIONAL REGULATION OF THE ROD cGMP-PHOSPHODIESTERASE b-SUBUNIT GENE

219

GENE THERAPY AND NEUROPROTECTION

232

DOWN-REGULATION OF RHODOPSIN GENE EXPRESSION BY AAV- VECTORED SHORT INTERFERING RNA

233

ASSESSING THE EFFICACY OF GENE THERAPY IN Rpe65-/- MICE USING PHOTOENTRAINMENT OF CIRCADIAN RHYTHM

239

LENTIVIRAL VECTORS CONTAINING A RETINAL PIGMENT EPITHELIUM SPECIFIC PROMOTER FOR LEBER CONGENITAL AMAUROSIS GENE THERAPY

246

GENE DELIVERY TO THE RETINA USING LENTIVIRAL VECTORS

253

POTENTIAL USE OF CELLULAR PROMOTER(S) TO TARGET RPE IN AAV- MEDIATED DELIVERY

265

CYTOKINE-INDUCED RETINAL DEGENERATION: ROLE OF SUPPRESSORS OF CYTOKINE SIGNALING ( SOCS) PROTEINS IN PROTECTION OF THE NEURORETINA

272

DISEASE MECHANISMS AND GENE THERAPY IN A MOUSE MODEL FOR X- LINKED RETINOSCHISIS

279

MOLECULAR MECHANISMS OF NEUROPROTECTION IN THE EYE

286

RETINAL DAMAGE CAUSED BY PHOTODYNAMIC THERAPY CAN BE REDUCED USING BDNF

291

CONTROLLING VASCULAR ENDOTHELIAL GROWTH FACTOR: THERAPIES FOR OCULAR DISEASES ASSOCIATED WITH NEOVASCULARIZATION

297

INTRAVITREAL INJECTION OF TRIAMCINOLONE ACETONIDE FOR MACULAR EDEMA DUE TO RETINITIS PIGMENTOSA AND OTHER RETINAL DISEASES

302

CONE SURVIVAL: IDENTIFICATION OF RdCVF

308

NEUROPROTECTION OF PHOTORECEPTORS IN THE RCS RAT AFTER IMPLANTATION OF A SUBRETINAL IMPLANT IN THE SUPERIOR OR INFERIOR RETINA

313

GLUTAMATE TRANSPORT MODULATION: A POSSIBLE ROLE IN RETINAL NEUROPROTECTION

319

ACTIVATION OF CELL SURVIVAL SIGNALS IN THE GOLDFISH RETINAL GANGLION CELLS AFTER OPTIC NERVE INJURY

325

USHER SYNDROME

330

ROLES AND INTERACTIONS OF USHER 1 PROTEINS IN THE OUTER RETINA

331

MOLECULAR ANALYSIS OF THE SUPRAMOLECULAR USHER PROTEIN COMPLEX IN THE RETINA

339

STEM CELLS, TRANSPLANTATION AND RETINAL REPAIR

344

LIMITED NEURAL DIFFERENTIATION OF RETINAL PIGMENT EPITHELIUM

345

RETINAL PIGMENT EPITHELIAL CELLS FROM THERMALLY RESPONSIVE POLYMER- GRAFTED SURFACE REDUCE APOPTOSIS

350

RETINAL TRANSPLANTATION

354

MICROARRAY ANALYSIS REVEALS RETINAL STEM CELL CHARACTERISTICS OF THE ADULT HUMAN EYE

364

USING STEM CELLS TO REPAIR THE DEGENERATE RETINA

368

OPTIC NERVE REGENERATION: MOLECULAR PRE- REQUISITES AND THE ROLE OF TRAINING

376

RETINAL GANGLION CELL REMODELLING IN EXPERIMENTAL GLAUCOMA

383

INDUCED RETINAL DEGENERATIONS

389

NEURAL PLASTICITY REVEALED BY LIGHT- INDUCED PHOTORECEPTOR LESIONS

390

FACTORS UNDERLYING CIRCADIAN DEPENDENT SUSCEPTIBILITY TO LIGHT INDUCED RETINAL DAMAGE

396

SPACE FLIGHT ENVIRONMENT INDUCES DEGENERATION IN THE RETINA OF RAT NEONATES

402

TOXICITY OF HYPEROXIA TO THE RETINA: EVIDENCE FROM THE MOUSE

410

TREATMENT WITH CARBONIC ANHYDRASE INHIBITORS DEPRESSES ELECTRORETINOGRAM RESPONSIVENESS IN MICE

423

INJURY-INDUCED RETINAL GANGLION CELL LOSS IN THE NEONATAL RAT RETINA

431

BASIC SCIENCE UNDERLYING RETINAL DEGENERATION

436

ARRESTIN TRANSLOCATION IN ROD PHOTORECEPTORS

437

BINDING OF N-RETINYLIDENE-PE TO ABCA4 AND A MODEL FOR ITS TRANSPORT ACROSS MEMBRANES

447

THE CHAPERONE FUNCTION OF THE LCA PROTEIN AIPL1

453

CRALBP LIGAND AND PROTEIN INTERACTIONS

459

FUNCTIONAL STUDY OF PHOTORECEPTOR PDEd

466

LOCALIZATION OF THE INSULIN RECEPTOR AND PHOSPHOINOSITIDE 3- KINASE IN DETERGENT- RESISTANT MEMBRANE RAFTS OF ROD PHOTORECEPTOR OUTER SEGMENTS

472

MERTK ACTIVATION DURING RPE PHAGOCYTOSIS IN VIVO REQUIRES aVb5 INTEGRIN

479

PHOTORECEPTOR RETINOL DEHYDROGENASES

484

PIGMENT EPITHELIUM-DERIVED GROWTH FACTOR INHIBITS FETAL BOVINE SERUM STIMULATED VASCULAR ENDOTHELIAL GROWTH FACTOR SYNTHESIS IN CULTURED HUMAN RETINAL PIGMENT EPITHELIAL CELLS

491

THE RETINAL PIGMENT EPITHELIUM APICAL MICROVILLI AND RETINAL FUNCTION

497

UPREGULATION OF TRANSGLUTAMINASE IN THE GOLDFISH RETINA DURING OPTIC NERVE REGENERATION

503

SURVIVAL SIGNALING IN RETINAL PIGMENT EPITHELIAL CELLS IN RESPONSE TO OXIDATIVE STRESS: SIGNIFICANCE IN RETINAL DEGENERATIONS

509

INDEX

519