(Q50777962)

19 March 2018

title

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. (English)

1 reference

19 March 2018

10

Anna-Elina Lehesjoki

1 reference

19 March 2018

Anna-Kaisa Anttonen

1

1 reference

19 March 2018

Eija Siintola

2

1 reference

19 March 2018

Lisbeth Tranebjaerg

3

1 reference

19 March 2018

Nobue K Iwata

4

1 reference

19 March 2018

Emilia K Bijlsma

5

1 reference

19 March 2018

Hiroyuki Meguro

6

1 reference

19 March 2018

Yaeko Ichikawa

7

1 reference

19 March 2018

Jun Goto

8

1 reference

19 March 2018

Outi Kopra

9

1 reference

19 March 2018

publication date

20 February 2008

1 reference

19 March 2018

European Journal of Human Genetics

published in

1 reference

19 March 2018

volume

16

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19 March 2018

issue

8

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19 March 2018

page(s)

961-969

1 reference

19 March 2018

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.22

exact match

0 references

cites work

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

Marinesco-Sjögren syndrome. Report of an autopsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

Glutamine repeats and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

Ligand-induced redistribution of a human KDEL receptor from the Golgi complex to the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

A C-terminal signal prevents secretion of luminal ER proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

Coordinated activation of Hsp70 chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

ER chaperones in mammalian development and human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

inferred from DOI database lookup

7 January 2021

based on heuristic

The nucleotide exchange factor activity of Grp170 may explain the non-lethal phenotype of loss of Sil1 function in man and mouse

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.22

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2008.22

1 reference

19 March 2018

release_5qdri2n46nbq5lhbgzq65sajhm

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5qdri2n46nbq5lhbgzq65sajhm

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

18285827

1 reference

19 March 2018