Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? (Q24642828)

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Qin Liu

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Lori S Sullivan

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Jingya Zhu

4

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Catherine J Spellicy

5

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Catherine Bowes Rickman

6

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Eric A Pierce

Investigative Ophthalmology Visual Science

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language of work or name

English

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publication date

September 2006

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published in

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volume

47

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issue

9

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page(s)

3754-65

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cites work

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

1 reference

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Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene

7 April 2017

1 reference

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

7 April 2017

1 reference

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Inosine 5'-monophosphate dehydrogenase binds nucleic acids in vitro and in vivo

7 April 2017

1 reference

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Targeted disruption of the inosine 5'-monophosphate dehydrogenase type I gene in mice

7 April 2017

1 reference

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Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

7 April 2017

1 reference

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Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors

7 April 2017

1 reference

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Two distinct cDNAs for human IMP dehydrogenase

7 April 2017

1 reference

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Recombinant human inosine monophosphate dehydrogenase type I and type II proteins. Purification and characterization of inhibitor binding

7 April 2017

1 reference

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IMP dehydrogenase: mechanism of action and inhibition

7 April 2017

1 reference

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Characterization of human type I and type II IMP dehydrogenases

7 April 2017

1 reference

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Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE.

7 April 2017

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Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene

27 September 2017

1 reference

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Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn

27 September 2017

1 reference

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Light in retinitis pigmentosa

27 September 2017

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

27 September 2017

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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

27 September 2017

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Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE).

27 September 2017

1 reference

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Tissue-differential expression of two distinct genes for human IMP dehydrogenase (E.C.1.1.1.205).

27 September 2017

1 reference

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Regulation of inosine monophosphate dehydrogenase type I and type II isoforms in human lymphocytes

27 September 2017

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Participation of yeast inosine 5'-monophosphate dehydrogenase in an in vitro complex with a fragment of the C-rich telomeric strand

28 November 2018

1 reference

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Epidemiology of retinitis pigmentosa in Denmark.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581456

Regulation of the human inosine monophosphate dehydrogenase type I gene. Utilization of alternative promoters

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581456

Selective up-regulation of type II inosine 5'-monophosphate dehydrogenase messenger RNA expression in human leukemias

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16936083

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of messenger RNA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16936083

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1167/IOVS.06-0207

1 reference

1 reference

1 reference

PubMed publication ID

16936083

1 reference