Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia (Q30549711)

28 October 2017

Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia (English)

1 reference

28 October 2017

frontotemporal dementia

1 reference

5

John Hardy

1 reference

28 October 2017

6

Parastoo Momeni

1 reference

28 October 2017

4

Jordan Grafman

1 reference

28 October 2017

1

Raffaele Ferrari

1 reference

28 October 2017

3

Edward D Huey

1 reference

28 October 2017

Dimitrios Kapogiannis

series ordinal

2

1 reference

PMCID

2974047

28 October 2017

language of work or name

English

0 references

publication date

1 October 2010

1 reference

Alzheimer Disease and Associated Disorders

28 October 2017

1 reference

28 October 2017

24

1 reference

28 October 2017

4

1 reference

28 October 2017

397-401

1 reference

Genetic screen identifies serpin5 as a regulator of the toll pathway and CHMP2B toxicity associated with frontotemporal dementia

28 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

The role of CHMP2B in frontotemporal dementia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Structural basis for selective recognition of ESCRT-III by the AAA ATPase Vps4

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

The emerging shape of the ESCRT machinery

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Did2 coordinates Vps4-mediated dissociation of ESCRT-III from endosomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Loss of autophagy in the central nervous system causes neurodegeneration in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Receptor downregulation and multivesicular-body sorting

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

The prevalence of frontotemporal dementia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Familial non-specific dementia maps to chromosome 3

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

The Neuropsychiatric Inventory: comprehensive assessment of psychopathology in dementia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Genetic Variability in CHMP2B and Frontotemporal Dementia

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

Chromosome 3 linked frontotemporal dementia (FTD-3).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974047

26 November 2018

Frontotemporal dementia

1 reference

12 December 2020

Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B

1 reference

12 December 2020

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia

1 reference

12 December 2020

A Reassessment of the Neuropathology of Frontotemporal Dementia Linked to Chromosome 3

1 reference

12 December 2020

No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia

1 reference

12 December 2020

1 reference

12 December 2020

10.1097/WAD.0B013E3181DF20C7

Identifiers

DOI

1 reference

28 October 2017

1 reference

28 October 2017

1 reference

PMCID

2974047