UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy (Q28752010)

20

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Ludger A Wessjohann

18

object named as

Ludger Wessjohann

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James Chodosh

8

object named as

James Chodosh

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author name string

Michael L Nickerson

1

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Brittany N Kostiha

2

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Wolfgang Brandt

3

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William Fredericks

4

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Ke-Ping Xu

5

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Fu-Shin Yu

6

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Bert Gold

7

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Marc Goldberg

9

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Da Wen Lu

10

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Masakazu Yamada

11

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Timo M Tervo

12

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Richard Grutzmacher

13

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Chris Croasdale

14

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John Sutphin

16

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S Bruce Malkowicz

17

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Howard S Kruth

19

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Jayne S Weiss

Creative Commons CC0 License

21

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language of work or name

English

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publication date

21 May 2010

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published in

PLOS One

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volume

5

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issue

5

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page(s)

e10760

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copyright license

start time

21 May 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

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cites work

Clustal W and Clustal X version 2.0

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Vitamin K deficiency reduces testosterone production in the testis through down-regulation of the Cyp11a a cholesterol side chain cleavage enzyme in rats

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Protein measurement with the Folin phenol reagent

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

A simple method for the isolation and purification of total lipides from animal tissues

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

The HMMTOP transmembrane topology prediction server

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Isolation and characterization of the TERE1 gene, a gene down-regulated in transitional cell carcinoma of the bladder

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Principles governing amino acid composition of integral membrane proteins: application to topology prediction

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Development and validation of a genetic algorithm for flexible docking

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

AQUA and PROCHECK-NMR: programs for checking the quality of protein structures solved by NMR

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Verification of protein structures: patterns of nonbonded atomic interactions

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis)

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

A structural model of the membrane-bound aromatic prenyltransferase UbiA from E. coli

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Greased hedgehogs: new links between hedgehog signaling and cholesterol metabolism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

An interaction between apolipoprotein E and TERE1 with a possible association with bladder tumor formation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Menaquinone (vitamin K2) biosynthesis: localization and characterization of the menA gene from Escherichia coli

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Schnyder crystalline dystrophy sine crystals. Recommendation for a revision of nomenclature.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Sequestration of acetylated LDL and cholesterol crystals by human monocyte-derived macrophages

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

3-Polyprenyl-4-hydroxybenzoate synthesis in the inner membrane of mitochondria from p-hydroxybenzoate and isopentenylpyrophosphate. A demonstration of isoprenoid synthesis in rat liver mitochondria

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.

3 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0010760

Modeling the E. coli 4-hydroxybenzoic acid oligoprenyltransferase ( ubiA transferase) and characterization of potential active sites

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0010760

Schnyder's dystrophy of the cornea. A Swede-Finn connection

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874009

Unesterified cholesterol in Schnyder's corneal crystalline dystrophy

27 November 2018

1 reference

12 December 2020

Procedure for determination of free and total cholesterol in micro- or nanogram amounts suitable for studies with cultured cells

1 reference

12 December 2020

Corneal changes in the dislipoproteinaemias

1 reference

12 December 2020

Schnyder's dystrophy. Progression and metabolism

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0010760

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

858950

ADS bibcode

2010PLoSO...510760N

0 references

OpenCitations bibliographic resource ID

858950

1 reference