DOI: 10.1086/521953. Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy

10.1086/521953

Crossref journal-article

Elsevier BV

The American Journal of Human Genetics (78)

Bibliography

Chakarova, C. F., Papaioannou, M. G., Khanna, H., Lopez, I., Waseem, N., Shah, A., Theis, T., Friedman, J., Maubaret, C., Bujakowska, K., Veraitch, B., El-Aziz, M. M. A., Prescott, D. Q., Parapuram, S. K., Bickmore, W. A., Munro, P. M. G., Gal, A., Hamel, C. P., Marigo, V., â¦ Bhattacharya, S. S. (2007). Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy. The American Journal of Human Genetics, 81(5), 1098â1103.

Authors 26

Christina F. Chakarova (first)
Myrto G. Papaioannou (additional)
Hemant Khanna (additional)
Irma Lopez (additional)
Naushin Waseem (additional)
Amna Shah (additional)
Torsten Theis (additional)
James Friedman (additional)
Cecilia Maubaret (additional)
Kinga Bujakowska (additional)
Brotati Veraitch (additional)
Mai M. Abd El-Aziz (additional)
De Quincy Prescott (additional)
Sunil K. Parapuram (additional)
Wendy A. Bickmore (additional)
Peter M.G. Munro (additional)
Andreas Gal (additional)
Christian P. Hamel (additional)
Valeria Marigo (additional)
Chris P. Ponting (additional)
Bernd Wissinger (additional)
Eberhart Zrenner (additional)
Karl Matter (additional)
Anand Swaroop (additional)
Robert K. Koenekoop (additional)
Shomi S. Bhattacharya (additional)

References 22 Referenced 60

10.1093/hmg/11.10.1219 / Hum Mol Genet / Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns by Rivolta (2002)
10.1159/000072042 / Dev Ophthalmol / Retinitis pigmentosa: genes, proteins and prospects by Hims (2003)
10.1007/s00439-005-0063-3 / Hum Genet / A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p by Papaioannou (2005)
{'key': '10.1086/521953_bib7', 'first-page': '1971', 'article-title': 'Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases', 'volume': '43', 'author': 'Sharon', 'year': '2002', 'journal-title': 'Invest Ophthalmol Vis Sci'} / Invest Ophthalmol Vis Sci / Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases by Sharon (2002)
10.1086/514866 / Am J Hum Genet / Embryonic lethal abnormal visual RNA-binding proteins involved in growth, differentiation, and posttranscriptional gene expression by Antic (1997)
10.1093/nar/27.12.2538 / Nucleic Acids Res / Interaction between human topoisomerase I and a novel RING finger/arginine-serine protein by Haluska (1999)
10.1099/0022-1317-83-3-511 / J Gen Virol / Topors, a p53 and topoisomerase I binding protein, interacts with the adeno-associated virus (AAV-2) Rep78/68 proteins and enhances AAV-2 gene expression by Weger (2002)
10.1073/pnas.96.20.11364 / Proc Natl Acad Sci USA / RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination by Lorick (1999)
10.1016/S0378-1119(99)00203-6 / Gene / Identification of a novel gene encoding a p53-associated protein by Zhou (1999)
10.1074/jbc.C400300200 / J Biol Chem / Topors functions as an E3 ubiquitin ligase with specific E2 enzymes and ubiquitinates p53 by Rajendra (2004)
10.1016/S0014-4827(03)00292-1 / Exp Cell Res / The DNA topoisomerase I binding protein topors as a novel cellular target for SUMO-1 modification: characterization of domains necessary for subcellular localization and sumolation by Weger (2003)
10.1006/excr.2002.5550 / Exp Cell Res / The topoisomerase I-binding RING protein, topors, is associated with promyelocytic leukemia nuclear bodies by Rasheed (2002)
10.1128/MCB.22.15.5259-5269.2002 / Mol Cell Biol / Pondering the promyelocytic leukemia protein (PML) puzzle: possible functions for PML nuclear bodies by Borden (2002)
10.1074/jbc.M310097200 / J Biol Chem / Drosophila Topors is a RING finger-containing protein that functions as a ubiquitin-protein isopeptide ligase for the hairy basic helix-loop-helix repressor protein by Secombe (2004)
10.1016/j.molcel.2005.08.031 / Mol Cell / The ubiquitin ligase dTopors directs the nuclear organization of a chromatin insulator by Capelson (2005)
10.1093/hmg/11.1.87 / Hum Mol Genet / Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa by Chakarova (2002)
10.1093/hmg/10.15.1555 / Hum Mol Genet / Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13) by McKie (2001)
10.1016/S1097-2765(01)00305-7 / Mol Cell / A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11) by Vithana (2001)
10.1074/jbc.M400270200 / J Biol Chem / Interactions of Arabidopsis RS domain containing cyclophilins with SR proteins and U1 and U11 small nuclear ribonucleoprotein-specific proteins suggest their involvement in pre-mRNA splicing by Lorkovic (2004)
10.1128/MCB.25.8.2969-2980.2005 / Mol Cell Biol / A novel SR-related protein is required for the second step of pre-mRNA splicing by Cazalla (2005)
10.1038/77068 / Nat Genet / Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy by Ali (2000)
10.1038/sj.gt.3302812 / Gene Ther / Gene therapy progress and prospects: the eye by Bainbridge (2006)

Dates

Type	When
Created	17 years, 10 months ago (Oct. 19, 2007, 8:25 a.m.)
Deposited	6 years, 8 months ago (Jan. 3, 2019, 6:56 a.m.)
Indexed	2 days, 22 hours ago (Aug. 31, 2025, 7:11 p.m.)
Issued	17 years, 10 months ago (Nov. 1, 2007)
Published	17 years, 10 months ago (Nov. 1, 2007)
Published Print	17 years, 10 months ago (Nov. 1, 2007)

Funders 0

None

BibTeX

@article{Chakarova_2007, title={Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy}, volume={81}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/521953}, DOI={10.1086/521953}, number={5}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Chakarova, Christina F. and Papaioannou, Myrto G. and Khanna, Hemant and Lopez, Irma and Waseem, Naushin and Shah, Amna and Theis, Torsten and Friedman, James and Maubaret, Cecilia and Bujakowska, Kinga and Veraitch, Brotati and El-Aziz, Mai M. Abd and Prescott, De Quincy and Parapuram, Sunil K. and Bickmore, Wendy A. and Munro, Peter M.G. and Gal, Andreas and Hamel, Christian P. and Marigo, Valeria and Ponting, Chris P. and Wissinger, Bernd and Zrenner, Eberhart and Matter, Karl and Swaroop, Anand and Koenekoop, Robert K. and Bhattacharya, Shomi S.}, year={2007}, month=nov, pages={1098–1103} }

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