SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.
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The crucial impact of lysosomes in aging and longevityAutophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALSAutophagy and agingp62/SQSTM1 functions as a signaling hub and an autophagy adaptorTeaching the basics of autophagy and mitophagy to redox biologists--mechanisms and experimental approachesDistinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusionsSpinal motor neuron protein supersaturation patterns are associated with inclusion body formation in ALS.Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.Granulostasis: Protein Quality Control of RNP Granules.Autophagy and human disease: emerging themes.RNA-Seq and ChIP-Seq reveal SQSTM1/p62 as a key mediator of JunB suppression of NF-κB-dependent inflammationExome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.Polymorphisms in autophagy genes are associated with paget disease of bone.Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD.Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.ALS-FTLD associated mutations of SQSTM1 impact on Keap1-Nrf2 signalling.KEAP1-NRF2 signalling and autophagy in protection against oxidative and reductive proteotoxicity.Iron and Neurodegeneration: Is Ferritinophagy the Link?New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.Sporadic inclusion body myositis - a myodegenerative disease or an inflammatory myopathy.Genetics of FTLD: overview and what else we can expect from genetic studies.Genetic factors conferring metastasis in osteosarcoma.Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain UbiquitinationSqstm1-GFP knock-in mice reveal dynamic actions of Sqstm1 during autophagy and under stress conditions in living cells.Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD.Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?The evolving genetic risk for sporadic ALS.The Nobel Prize for understanding autophagy, a cellular mechanism of waste disposal that keeps us healthy.Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations.Oxidation of SQSTM1/p62 mediates the link between redox state and protein homeostasis.Epithelioid fibrous histiocytoma: molecular characterization of ALK fusion partners in 23 cases.Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.Identification of a Novel Hemizygous SQSTM1 Nonsense Mutation in Atypical Behavioral Variant Frontotemporal Dementia.Autophagy as a common pathway in amyotrophic lateral sclerosis.Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.Perturbed autophagy and DNA repair converge to promote neurodegeneration in amyotrophic lateral sclerosis and dementia.
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SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
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name
SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.
@en
type
label
SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.
@en
prefLabel
SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.
@en
P50
P1476
SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD
@en
P2093
Veronika Majcher
P356
10.1016/J.YEXCR.2014.01.020
P407
P577
2014-01-30T00:00:00Z