(Q44644427)

5 December 2017

title

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology (English)

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amyotrophic lateral sclerosis

5 December 2017

main subject

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9

Vincent Meininger

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5 December 2017

Elisa Teyssou

1

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5 December 2017

Takahiro Takeda

2

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5 December 2017

Vincent Lebon

3

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5 December 2017

Séverine Boillée

4

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5 December 2017

Brahima Doukouré

5

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5 December 2017

Guillaume Bataillon

6

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5 December 2017

Véronique Sazdovitch

7

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5 December 2017

Cécile Cazeneuve

8

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5 December 2017

Eric LeGuern

10

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5 December 2017

François Salachas

11

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5 December 2017

Danielle Seilhean

12

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5 December 2017

Stéphanie Millecamps

13

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5 December 2017

publication date

17 February 2013

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5 December 2017

published in

Acta Neuropathologica

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5 December 2017

volume

125

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5 December 2017

issue

4

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5 December 2017

page(s)

511-522

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Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

5 December 2017

cites work

1 reference

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Microglial activation and TDP-43 pathology correlate with executive dysfunction in amyotrophic lateral sclerosis

21 January 2018

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Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

21 January 2018

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El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

21 January 2018

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Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

21 January 2018

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The epidemiology of Paget's disease in Britain: is the prevalence decreasing?

21 January 2018

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Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation

21 January 2018

1 reference

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A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.

21 January 2018

1 reference

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

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Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone

21 January 2018

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SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

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Sequestosome 1/p62: across diseases

21 January 2018

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Pathological 43-kDa transactivation response DNA-binding protein in older adults with and without severe mental illness

21 January 2018

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Motor neuron disease clinically limited to the lower motor neuron is a diffuse TDP-43 proteinopathy

21 January 2018

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Polyubiquitin binding to optineurin is required for optimal activation of TANK-binding kinase 1 and production of interferon β.

21 January 2018

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Recent advances in understanding the molecular basis of Paget disease of bone

21 January 2018

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Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions

21 January 2018

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Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

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Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies

21 January 2018

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Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

21 January 2018

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Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

21 January 2018

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A harmonized classification system for FTLD-TDP pathology

21 January 2018

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Mutations of optineurin in amyotrophic lateral sclerosis

21 January 2018

1 reference

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Genetics of Paget's disease of bone

21 January 2018

1 reference

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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

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Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1090-0

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1090-0

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

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p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions

21 January 2018

1 reference

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p62, a phosphotyrosine-independent ligand of the SH2 domain of p56lck, belongs to a new class of ubiquitin-binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1090-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1090-0

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1090-0

Loss of Ubiquitin Binding Is a Unifying Mechanism by Which Mutations of SQSTM1 Cause Paget’s Disease of Bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1090-0

Epidemiogenetic study of French families with Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1090-0

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1090-0

10.1007/S00401-013-1090-0

21 January 2018

Identifiers

DOI

1 reference

5 December 2017

1 reference