(Q40024875)

16 September 2017

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease (English)

1 reference

16 September 2017

1 reference

Pietro Balbi

5

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Isabella Ceccherini

object named as

Isabella Ceccherini

11

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author name string

Tiziana Bachetti

1

1 reference

16 September 2017

Francesco Caroli

2

1 reference

16 September 2017

Paola Bocca

3

1 reference

16 September 2017

Ignazia Prigione

4

1 reference

16 September 2017

Roberta Biancheri

6

1 reference

16 September 2017

Mirella Filocamo

7

1 reference

16 September 2017

Caterina Mariotti

8

1 reference

16 September 2017

Davide Pareyson

9

1 reference

16 September 2017

Roberto Ravazzolo

10

1 reference

16 September 2017

16 January 2008

1 reference

European Journal of Human Genetics

16 September 2017

1 reference

16 September 2017

16

1 reference

16 September 2017

4

1 reference

16 September 2017

462-470

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201995

16 September 2017

0 references

cites work

Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Alexander's disease: A report and reappraisal

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Formation of GFAP cytoplasmic inclusions in astrocytes and their disaggregation by alphaB-crystallin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Heat shock factor 2 is involved in the upregulation of alphaB-crystallin by high extracellular potassium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Array-based analysis of genomic DNA methylation patterns of the tumour suppressor gene p16INK4A promoter in colon carcinoma cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Alpha B-crystallin in C6 glioma cells supports their survival in elevated extracellular K+: the implication of a protective role of alpha B-crystallin accumulation in reactive glia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

Intermediate filament protein partnership in astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

inferred from DOI database lookup

7 January 2021

based on heuristic

Alexander-disease mutation of GFAP causes filament disorganization and decreased solubility of GFAP

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

inferred from DOI database lookup

7 January 2021

based on heuristic

Synergistic effects of the SAPK/JNK and the proteasome pathway on glial fibrillary acidic protein (GFAP) accumulation in Alexander disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201995

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201995

1 reference

Dimensions Publication ID

16 September 2017

0 references

1 reference