Concepedia

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

Christina Chakarova, Myrto Papaioannou, Hemant Khanna, Irma López, Naushin Waseem, Amna Shah, Torsten Theis, James S. Friedman, C. Maubaret, Kinga M. Bujakowska,

The American Journal of Human Genetics · 2007 · 79 citations · 17 references

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17

RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination

Kevin L. Lorick, Jane P. Jensen, Shengyun Fang et al. · Proceedings of the National Academy of Sciences · 1999 · 1.2K citations

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A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)

Eranga N. Vithana, Leen Abu‐Safieh, Maxine Allen et al. · Molecular Cell · 2001 · 333 citations · Full text

, , +11

Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy

Robin R. Ali, Gian‐Marco Sarra, Mahesh de Alwis et al. · Nature Genetics · 2000 · 308 citations

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Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

Arthur B. McKie · Human Molecular Genetics · 2001 · 280 citations

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Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

Christina Chakarova · Human Molecular Genetics · 2002 · 240 citations

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