(Q38184230)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

7 March 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Mark S. Searle

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Robert Layfield

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

author name string

Veronika Majcher

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

language of work or name

English

0 references

publication date

30 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

Experimental Cell Research

7 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

325

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

page(s)

27-37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24486447%20AND%20SRC:MED&resulttype=core&format=json

Optineurin suppression causes neuronal cell death via NF-κB pathway.

7 March 2020

cites work

1 reference

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Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

7 January 2021

1 reference

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Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease.

7 January 2021

1 reference

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Amyotrophic lateral sclerosis, frontotemporal lobar dementia, and p62: a functional convergence?

7 January 2021

1 reference

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Neuronal and glial inclusions in frontotemporal dementia with or without motor neuron disease are immunopositive for p62

7 January 2021

1 reference

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

7 January 2021

1 reference

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VCP (p97) regulates NFkappaB signaling pathway, which is important for metastasis of osteosarcoma cell line

7 January 2021

1 reference

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Paget's disease of bone--becoming a rarity?

7 January 2021

1 reference

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p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death

7 January 2021

1 reference

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Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function

7 January 2021

1 reference

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Trehalose delays the progression of amyotrophic lateral sclerosis by enhancing autophagy in motoneurons

7 January 2021

1 reference

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The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts

7 January 2021

1 reference

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The IKK complex contributes to the induction of autophagy

7 January 2021

1 reference

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Astroglial inhibition of NF-κB does not ameliorate disease onset and progression in a mouse model for amyotrophic lateral sclerosis (ALS)

7 January 2021

1 reference

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Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Autophagy proteins regulate the secretory component of osteoclastic bone resorption

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Oxidative damage to the promoter region of SQSTM1/p62 is common to neurodegenerative disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Sequestosome 1/p62 links familial ALS mutant SOD1 to LC3 via an ubiquitin-independent mechanism.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Message and protein-level elevation of tumor necrosis factor alpha (TNF alpha) and TNF alpha-modulating cytokines in spinal cords of the G93A-SOD1 mouse model for amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Structural basis for sorting mechanism of p62 in selective autophagy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Phosphorylation of p62 activates the Keap1-Nrf2 pathway during selective autophagy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Amyotrophic lateral sclerosis: an update on recent genetic insights

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Self-propagation of pathogenic protein aggregates in neurodegenerative diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Suppression of NF-kappaB signaling by KEAP1 regulation of IKKbeta activity through autophagic degradation and inhibition of phosphorylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

p62/SQSTM1/A170: physiology and pathology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Ubiquitin-binding protein p62 expression is induced during apoptosis and proteasomal inhibition in neuronal cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Ubiquilins in the crosstalk among proteolytic pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Altered macroautophagy in the spinal cord of SOD1 mutant mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Stress granules as crucibles of ALS pathogenesis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

K63 polyubiquitination and activation of mTOR by the p62-TRAF6 complex in nutrient-activated cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Dimerisation of the UBA domain of p62 inhibits ubiquitin binding and regulates NF-kappaB signalling

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Immunoreactivities of p62, an ubiqutin-binding protein, in the spinal anterior horn cells of patients with amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Signal integration and diversification through the p62 scaffold protein

7 January 2021

1 reference

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Mutations of optineurin in amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Impaired antioxydative Keap1/Nrf2 system and the downstream stress protein responses in the motor neuron of ALS model mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

A new subtype of frontotemporal lobar degeneration with FUS pathology

7 January 2021

1 reference

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Autophagy, lithium, and amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

The E3 ubiquitin ligase TRAF6 intercedes in starvation-induced skeletal muscle atrophy through multiple mechanisms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Circulating levels of tumour necrosis factor-alpha and its soluble receptors are increased in the blood of patients with amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Pathogenesis of Paget disease of bone.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

New insights into the role of sequestosome 1/p62 mutant proteins in the pathogenesis of Paget's disease of bone.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Analysis of optineurin in frontotemporal lobar degeneration.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Nuclear factor κ B expression in patients with sporadic amyotrophic lateral sclerosis and hereditary amyotrophic lateral sclerosis with optineurin mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Frontotemporal lobar degeneration: clinical and pathological relationships

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Autophagy and Its Comprehensive Impact on ALS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB-mediated pathogenic pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Controversies and priorities in amyotrophic lateral sclerosis

7 January 2021

1 reference

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Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial

7 January 2021

1 reference

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Degradation of TDP-43 and its pathogenic form by autophagy and the ubiquitin-proteasome system.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

The p62 scaffold regulates nerve growth factor-induced NF-kappaB activation by influencing TRAF6 polyubiquitination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

The S349T mutation of SQSTM1 links Keap1/Nrf2 signalling to Paget's disease of bone.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020

Rapamycin treatment augments motor neuron degeneration in SOD1(G93A) mouse model of amyotrophic lateral sclerosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.01.020