Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy (Q34169430)

31 July 2017

Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy (English)

1 reference

31 July 2017

1 reference

Esther Leshinsky-Silver

10

object named as

Esther Leshinsky-Silver

0 references

Tally Lerman-Sagie

14

object named as

Tally Lerman-Sagie

1 reference

31 July 2017

3

Dorit Lev

1 reference

31 July 2017

Orly Agamy

1

1 reference

31 July 2017

Bruria Ben Zeev

2

1 reference

31 July 2017

Barak Marcus

4

1 reference

31 July 2017

Dina Fine

5

1 reference

31 July 2017

Dan Su

6

1 reference

31 July 2017

Ginat Narkis

7

1 reference

31 July 2017

Rivka Ofir

8

1 reference

31 July 2017

Chen Hoffmann

9

1 reference

31 July 2017

Hagit Flusser

11

1 reference

31 July 2017

Sara Sivan

12

1 reference

31 July 2017

Dieter Söll

13

1 reference

31 July 2017

Ohad S Birk

15

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 October 2010

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

87

1 reference

31 July 2017

538-544

1 reference

31 July 2017

4

1 reference

Syndrome to gene (S2G): in-silico identification of candidate genes for human diseases

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Neuronal selenoprotein expression is required for interneuron development and prevents seizures and neurodegeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Regulation and function of selenoproteins in human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

The Human SepSecS-tRNASec Complex Reveals the Mechanism of Selenocysteine Formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Eukaryotic selenoproteins and selenoproteomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

The selenium to selenoprotein pathway in eukaryotes: more molecular partners than anticipated

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

The canonical pathway for selenocysteine insertion is dispensable in Trypanosomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Structural insights into RNA-dependent eukaryal and archaeal selenocysteine formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Structure and catalytic mechanism of eukaryotic selenocysteine synthase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

RNA-dependent conversion of phosphoserine forms selenocysteine in eukaryotes and archaea

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Neurological dysfunction occurs in mice with targeted deletion of the selenoprotein P gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Substitution of Cysteine for Selenocysteine in the Catalytic Center of Type III Iodothyronine Deiodinase Reduces Catalytic Efficiency and Alters Substrate Preference

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Deletion of selenoprotein P alters distribution of selenium in the mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Evidence for specific selenium target tissues and new biologically important selenoproteins.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Neurodegeneration in mice resulting from loss of functional selenoprotein P or its receptor apolipoprotein E receptor 2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Comparative analysis of selenocysteine machinery and selenoproteome gene expression in mouse brain identifies neurons as key functional sites of selenium in mammals

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Deletion of apolipoprotein E receptor-2 in mice lowers brain selenium and causes severe neurological dysfunction and death when a low-selenium diet is fed.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

All regions of mouse brain are dependent on selenoprotein P for maintenance of selenium.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948803

Tissue level, distribution, and total body selenium content in healthy and diseased humans in Poland

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20920667

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20920667

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.09.007

1 reference

31 July 2017

1 reference

31 July 2017

1 reference