Literature DB >> 12043834

Molecular aspects of retinal degenerative diseases.

S Lev1.   

Abstract

Retinal degeneration, either acquired or inherited, is a major cause of visual impairment and blindness in humans. Inherited retinal degeneration comprises a large group of diseases that result in the loss of photoreceptor cells. To date, 131 retinal disease loci have been identified, and 76 of the genes at these loci have been isolated (RetNet Web site). Several of these genes were first considered candidates because of their chromosomal localization or homology to genes involved in retinal degeneration in other organisms. In this review, I will discuss recent advances in the identification of genes that cause retinal degeneration, and I will describe the mechanisms of photoreceptor death and potential treatments for retinal degenerative diseases.

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Year:  2001        PMID: 12043834     DOI: 10.1023/a:1015183500719

Source DB:  PubMed          Journal:  Cell Mol Neurobiol        ISSN: 0272-4340            Impact factor:   5.046


  105 in total

1.  Gene table: Inherited retinal diseases in humans.

Authors:  S P Daiger
Journal:  Eur J Paediatr Neurol       Date:  2000       Impact factor: 3.140

2.  Mammalian homolog of Drosophila retinal degeneration B rescues the mutant fly phenotype.

Authors:  J T Chang; S Milligan; Y Li; C E Chew; J Wiggs; N G Copeland; N A Jenkins; P A Campochiaro; D R Hyde; D J Zack
Journal:  J Neurosci       Date:  1997-08-01       Impact factor: 6.167

3.  Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.

Authors:  G Clarke; A F Goldberg; D Vidgen; L Collins; L Ploder; L Schwarz; L L Molday; J Rossant; A Szél; R S Molday; D G Birch; R R McInnes
Journal:  Nat Genet       Date:  2000-05       Impact factor: 38.330

4.  Assignment of the rhodopsin gene to human chromosome three, region 3q21-3q24 by in situ hybridization studies.

Authors:  R S Sparkes; I Klisak; D Kaufman; T Mohandas; A J Tobin; J F McGinnis
Journal:  Curr Eye Res       Date:  1986-10       Impact factor: 2.424

5.  Genetic dissection of the Drosophila nervous system by means of mosaics.

Authors:  Y Hotta; S Benzer
Journal:  Proc Natl Acad Sci U S A       Date:  1970-11       Impact factor: 11.205

Review 6.  Two types of neuronal precursor cells in the mammalian retina--a short review.

Authors:  A Reichenbach
Journal:  J Hirnforsch       Date:  1993

7.  Molecular cloning, expression, and characterization of a novel human serine/threonine protein phosphatase, PP7, that is homologous to Drosophila retinal degeneration C gene product (rdgC).

Authors:  X Huang; R E Honkanen
Journal:  J Biol Chem       Date:  1998-01-16       Impact factor: 5.157

8.  Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.

Authors:  H Morimura; G A Fishman; S A Grover; A B Fulton; E L Berson; T P Dryja
Journal:  Proc Natl Acad Sci U S A       Date:  1998-03-17       Impact factor: 11.205

9.  Structure of retinular cells in a Drosophila melanogaster visual mutant, rdgA, at early stages of degeneration.

Authors:  E Matsumoto; K Hirosawa; K Takagawa; Y Hotta
Journal:  Cell Tissue Res       Date:  1988-05       Impact factor: 5.249

10.  Distribution of the myosin I-like ninaC proteins in the Drosophila retina and ultrastructural analysis of mutant phenotypes.

Authors:  J L Hicks; D S Williams
Journal:  J Cell Sci       Date:  1992-01       Impact factor: 5.285

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  8 in total

1.  PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.

Authors:  Linda Köhn; Susanne Kohl; Sara J Bowne; Lori S Sullivan; Ulrich Kellner; Stephen P Daiger; Ola Sandgren; Irina Golovleva
Journal:  Ophthalmic Genet       Date:  2010-09       Impact factor: 1.803

2.  Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.

Authors:  Christina Brennenstuhl; Naoyuki Tanimoto; Markus Burkard; Rebecca Wagner; Sylvia Bolz; Dragana Trifunovic; Clement Kabagema-Bilan; Francois Paquet-Durand; Susanne C Beck; Gesine Huber; Mathias W Seeliger; Peter Ruth; Bernd Wissinger; Robert Lukowski
Journal:  J Biol Chem       Date:  2015-03-04       Impact factor: 5.157

3.  Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes.

Authors:  Jonathan A Coleman; Michael C M Kwok; Robert S Molday
Journal:  J Biol Chem       Date:  2009-09-24       Impact factor: 5.157

4.  Suppression of tumor growth and angiogenesis in vivo by a truncated form of 24-kd fibroblast growth factor (FGF)-2.

Authors:  Eugene G Levin; Lyudmila Sikora; Lan Ding; Savita P Rao; P Sriramarao
Journal:  Am J Pathol       Date:  2004-04       Impact factor: 4.307

5.  Complete Transcriptome Profiling of Normal and Age-Related Macular Degeneration Eye Tissues Reveals Dysregulation of Anti-Sense Transcription.

Authors:  Eun Ji Kim; Gregory R Grant; Anita S Bowman; Naqi Haider; Harini V Gudiseva; Venkata Ramana Murthy Chavali
Journal:  Sci Rep       Date:  2018-02-14       Impact factor: 4.379

Review 6.  The Role of Selected Chemokines and Their Receptors in the Development of Gliomas.

Authors:  Magdalena Groblewska; Ala Litman-Zawadzka; Barbara Mroczko
Journal:  Int J Mol Sci       Date:  2020-05-24       Impact factor: 5.923

7.  Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Authors:  Bilal Azab; Zain Dardas; Dunia Aburizeg; Muawyah Al-Bdour; Mohammed Abu-Ameerh; Tareq Saleh; Raghda Barham; Ranad Maswadi; Nidaa A Ababneh; Mohammad Alsalem; Hana Zouk; Sami Amr; Abdalla Awidi
Journal:  Genes (Basel)       Date:  2021-04-19       Impact factor: 4.096

8.  A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype.

Authors:  Pooja Biswas; Anne Marie Berry; Qais Zawaydeh; Dirk-Uwe G Bartsch; Pongali B Raghavendra; J Fielding Hejtmancik; Naheed W Khan; S Amer Riazuddin; Radha Ayyagari
Journal:  Genes (Basel)       Date:  2022-08-17       Impact factor: 4.141

  8 in total

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