Concepedia

Molecular recruitment as a basis for negative dominant inheritance? Propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa

Xiaotao Wang, Brian Mion, Aileen Aherne, Paul C. Engel

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2011 · 14 citations · 8 references

DOI

Concepts

References

8

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice

Avril Kennan · Human Molecular Genetics · 2002 · 171 citations

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On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa

Aileen Aherne · Human Molecular Genetics · 2004 · 100 citations

, , +17

Autosomal dominant retinitis pigmentosa mutations in inosine 5′-monophosphate dehydrogenase type I disrupt nucleic acid binding

Sarah Mortimer, Lizbeth Hedstrom · Biochemical Journal · 2005 · 75 citations · Full text

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Why Do Mutations in the Ubiquitously Expressed Housekeeping Gene<i>IMPDH1</i>Cause Retina-Specific Photoreceptor Degeneration?

Sara J. Bowne, Qin Liu, Lori S. Sullivan et al. · Investigative Ophthalmology & Visual Science · 2006 · 71 citations · Full text

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Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)

Lawrence C. S. Tam, Anna‐Sophia Kiang, Avril Kennan et al. · Human Molecular Genetics · 2008 · 63 citations · Full text

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