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
Author:
Publisher
Elsevier BV
Subject
Molecular Biology,Molecular Medicine
Reference12 articles.
1. On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention;Farrar;EMBO J.,2002
2. Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microrarray analysis of transcripts derived from retinas of wild-type and Rho(−/0) mice;Kennan;Hum. Mol. Genet.,2002
3. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa;Bowne;Hum. Mol. Genet.,2002
4. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp22Asn;Wada;Invest. Ophthalmol. Vis. Sci.,2005
5. On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa;Aherne;Hum. Mol. Genet.,2004
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1. Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic;Current Eye Research;2024-04-11
2. Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases;Journal of Medical Genetics;2024-03-18
3. A journey into the regulatory secrets of the de novo purine nucleotide biosynthesis;Frontiers in Pharmacology;2024-02-20
4. Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases;2023-11-10
5. Insights on the conformation and appropriate drug-target sites on retinal IMPDH1 using the 604-aa isoform lacking the C-terminal extension;Research in Pharmaceutical Sciences;2023
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