Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):839-49.

IMP dehydrogenase-linked retinitis pigmentosa.

Source

Department of Chemistry, Brandeis University, Waltham, Massachusetts, USA. hedstrom@brandeis.edu

Abstract

Many retinal diseases are caused by mutations in photoreceptor-specific proteins. However, retinal disease can also result from mutations in widely expressed proteins. One such protein is inosine monophosphate dehydrogenase type 1 (IMPDH1), which catalyzes a key step in guanine nucleotide biosynthesis and also binds single-stranded nucleic acids. The pathogenic IMPDH1 mutations are in or near the CBS domains and do not affect enzymatic activity. However, these mutations do decrease the affinity and specificity of single-stranded nucleic acid binding. These observations suggest that IMPDH1 has a previously unappreciated role in RNA metabolism that is crucial for photoreceptor function.

PMID:: 18600550; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Review

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Autosomal dominant retinitis pigmentosa mutations in inosine 5'-monophosphate dehydrogenase type I disrupt nucleic acid binding. [Biochem J. 2005]
Autosomal dominant retinitis pigmentosa mutations in inosine 5'-monophosphate dehydrogenase type I disrupt nucleic acid binding.
Mortimer SE, Hedstrom L. Biochem J. 2005 Aug 15; 390(Pt 1):41-7.
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. [Invest Ophthalmol Vis Sci. 2006]
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, et al. Invest Ophthalmol Vis Sci. 2006 Jan; 47(1):34-42.
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. [Hum Mol Genet. 2002]
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Hum Mol Genet. 2002 Mar 1; 11(5):559-68.
Review Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa. [Adv Exp Med Biol. 2012]
Review Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa.
McGrew DA, Hedstrom L. Adv Exp Med Biol. 2012; 723:539-45.
Review Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP. [Adv Exp Med Biol. 2003]
Review Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.
Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR, RP1 Consortium. Adv Exp Med Biol. 2003; 533:1-11.

See reviews... See all...

Cited by 1 PubMed Central article

A regulatory role of the Bateman domain of IMP dehydrogenase in adenylate nucleotide biosynthesis. [J Biol Chem. 2009]
A regulatory role of the Bateman domain of IMP dehydrogenase in adenylate nucleotide biosynthesis.
Pimkin M, Pimkina J, Markham GD. J Biol Chem. 2009 Mar 20; 284(12):7960-9. Epub 2009 Jan 18.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

IMP dehydrogenase-linked retinitis pigmentosa.
IMP dehydrogenase-linked retinitis pigmentosa.
Nucleosides Nucleotides Nucleic Acids. 2008 Jun ;27(6):839-49.

PubMed
Analysis of dermatologic events in patients with cancer treated with lapatinib.
Analysis of dermatologic events in patients with cancer treated with lapatinib.
Breast Cancer Res Treat. 2009 Apr ;114(3):485-93. Epub 2008 Jul 4 .

PubMed
The relationship of hand preference to anatomy of the corpus callosum in men.
The relationship of hand preference to anatomy of the corpus callosum in men.
Brain Res. 1991 Apr 5 ;545(1-2):175-82.

PubMed
A high throughput protein formulation platform: case study of salmon calcitonin.
A high throughput protein formulation platform: case study of salmon calcitonin.
Pharm Res. 2009 Jan ;26(1):118-28. Epub 2008 Jul 4 .

PubMed
Long-lasting change in the membrane-associated protein kinase C activity in the ...
Long-lasting change in the membrane-associated protein kinase C activity in the hippocampal kindled rat.
Brain Res. 1991 Apr 5 ;545(1-2):131-6.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: