UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Muscle and Nerve

• Publication date

  2012-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/mus.23278PMID 22246868
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  2011cited by this paper
• Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations.

  2011cited by this paper
• Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

  2011cited by this paper
• SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.

  2011cited by this paper
• Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

  2011cited by this paper
• Making Connections: Pathology and Genetics Link Amyotrophic Lateral Sclerosis with Frontotemporal Lobe Dementia

  2011cited by this paper
• Protein clearing pathways in ALS.

  2011cited by this paper
• Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia

  2011cited by this paper
• 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

  2011cited by this paper
• Regulation of TDP‐43 aggregation by phosphorylation andp62/SQSTM1

  2011cited by this paper
• Autophagy in Spinal Cord Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis

  2011cited by this paper
• Ubiquilin Modifies TDP-43 Toxicity in a Drosophila Model of Amyotrophic Lateral Sclerosis (ALS)*

  2010cited by this paper
• Physiological significance of selective degradation of p62 by autophagy

  2010cited by this paper
• Mutations of optineurin in amyotrophic lateral sclerosis

  2010influential reference
• VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

  2010cited by this paper
• Ubiquilin at a crossroads in protein degradation pathways

  2010cited by this paper
• Exome sequencing reveals VCP mutations as a cause of familial ALS.

  2010cited by this paper
• Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy.

  2010cited by this paper
• Genome wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget’s disease of bone

  2010cited by this paper
• Emerging role of Alzheimer's disease-associated ubiquilin-1 in protein aggregation.

  2010cited by this paper
• Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy.

  2010cited by this paper
• Degradation of TDP-43 and its pathogenic form by autophagy and the ubiquitin-proteasome system.

  2010cited by this paper
• Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

  2009cited by this paper
• Accumulation of ubiquitin conjugates in a polyglutamine disease model occurs without global ubiquitin/proteasome system impairment

  2009cited by this paper
• Synergistic effect between proteasome and autophagosome in the clearance of polyubiquitinated TDP‐43

  2009cited by this paper
• Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.

  2009influential reference
• PLIC proteins or ubiquilins regulate autophagy‐dependent cell survival during nutrient starvation

  2009cited by this paper
• 17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse.

  2009cited by this paper
• Potentiation of Amyotrophic Lateral Sclerosis (ALS)-associated TDP-43 Aggregation by the Proteasome-targeting Factor, Ubiquilin 1*

  2009cited by this paper
• Protein turnover and inclusion body formation

  2009cited by this paper
• Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis.

  2009cited by this paper
• Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

  2009cited by this paper
• Autophagy Inhibition Compromises Degradation of Ubiquitin-Proteasome Pathway Substrates

  2009cited by this paper
• Autophagy in neurodegeneration: two sides of the same coin.

  2009cited by this paper
• Sequestosome 1/p62 links familial ALS mutant SOD1 to LC3 via an ubiquitin‐independent mechanism

  2009cited by this paper
• Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

  2009cited by this paper
• TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

  2008cited by this paper
• Autophagy and the ubiquitin-proteasome system: collaborators in neuroprotection.

  2008cited by this paper
• Depletion of 26S Proteasomes in Mouse Brain Neurons Causes Neurodegeneration and Lewy-Like Inclusions Resembling Human Pale Bodies

  2008cited by this paper
• Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells.

  2008cited by this paper
• Lithium delays progression of amyotrophic lateral sclerosis

  2008cited by this paper
• Motor Neuron Disease Occurring in a Mutant Dynactin Mouse Model Is Characterized by Defects in Vesicular Trafficking

  2008cited by this paper
• TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

  2008cited by this paper
• The role of the ubiquitin proteasome system in synapse remodeling and neurodegenerative diseases

  2008cited by this paper
• Altered macroautophagy in the spinal cord of SOD1 mutant mice

  2008cited by this paper
• Autophagosomes in GFP-LC3 Transgenic Mice.

  2008cited by this paper
• Disease-associated prion protein oligomers inhibit the 26S proteasome.

  2007cited by this paper
• Autophagy: from phenomenology to molecular understanding in less than a decade

  2007cited by this paper
• Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

  2006cited by this paper
• Genetics of Paget's disease of bone.

  2006cited by this paper
• Loss of autophagy in the central nervous system causes neurodegeneration in mice

  2006cited by this paper
• Proteasomal Degradation of Mutant Superoxide Dismutases Linked to Amyotrophic Lateral Sclerosis*

  2005cited by this paper
• Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.

  2005cited by this paper
• Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin‐associated and ubiquitin‐like domains

  2004cited by this paper
• Proteasomal inhibition causes the formation of protein aggregates containing a wide range of proteins, including nitrated proteins

  2003cited by this paper
• Aggregate formation in the spinal cord of mutant SOD1 transgenic mice is reversible and mediated by proteasomes

  2003cited by this paper
• p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases.

  2002cited by this paper
• Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies

  2001cited by this paper
• Formation of high molecular weight complexes of mutant Cu, Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis.

  2000cited by this paper
• Genetics of Paget's disease of bone.

  1998cited by this paper
• Proteasome inhibition enhances the stability of mouse Cu/Zn superoxide dismutase with mutations linked to familial amyotrophic lateral sclerosis.

  1996cited by this paper
• Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

  1993cited by this paper
• Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

  1993cited by this paper

• Molecular insights into aggrephagy: Their cellular functions in the context of neurodegenerative diseases.

  2024cites this paper
• Valosin-Containing Protein: A Potential Therapeutic Target for Cardiovascular Diseases.

  2024cites this paper
• Update on the pathogenesis and genetics of Paget’s disease of bone

  2022cites this paper
• Damaged DNA Is an Early Event of Neurodegeneration in Induced Pluripotent Stem Cell-Derived Motoneurons with UBQLN2P497H Mutation

  2022cites this paper
• UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD

  2021cites this paper
• Protein Quality Control in Neurodegeneration and Neuroprotection

  2020cites this paper
• Integrated network analysis of symptom clusters across disease conditions

  2020cites this paper
• Genetic defects of autophagy linked to disease.

  2020cites this paper
• Evidence Linking Protein Misfolding to Quality Control in Progressive Neurodegenerative Diseases.

  2020cites this paper
• Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles

  2020cites this paper
• ALS-linked mutations impair UBQLN2 stress-induced biomolecular condensate assembly in cells

  2020cites this paper
• When It Comes to an End: Oxidative Stress Crosstalk with Protein Aggregation and Neuroinflammation Induce Neurodegeneration

  2020cites this paper
• Autophagy as a common pathway in amyotrophic lateral sclerosis.

  2019cites this paper
• Rare Inherited forms of Paget’s Disease and Related Syndromes

  2019cites this paper
• Neuronal Expression of UBQLN2P497H Exacerbates TDP-43 Pathology in TDP-43G348C Mice through Interaction with Ubiquitin

  2018cites this paper
• Genetic aberrations in macroautophagy genes leading to diseases.

  2018cites this paper
• Amyotrophic Lateral Sclerosis and Primary Lateral Sclerosis

  2017cites this paper
• Modélisation et analyses physiopathologiques de la Sclérose Latérale Amyotrophique liée à l'ubiquiline 2 à l'aide de vecteurs AAV10

  2017cites this paper
• p62 Pathology Model in the Rat Substantia Nigra with Filamentous Inclusions and Progressive Neurodegeneration

  2017cites this paper
• ALS: A bucket of genes, environment, metabolism and unknown ingredients.

  2016cites this paper
• Investigation of the cell- and non-cell autonomous impact of the C9orf72 mutation on human induced pluripotent stem cell-derived astrocytes

  2016cites this paper
• Cognitive impairment in amyotrophic lateral sclerosis, clues from the SOD1 mouse.

  2016cites this paper
• [A Pair of Siblings with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis and a Novel Thr462Lysfs Mutation in the TBK1 Gene].

  2016cites this paper
• Impaired Autophagy and Defective Mitochondrial Function: Converging Paths on the Road to Motor Neuron Degeneration

  2016cites this paper
• New transgenic ALS/FTD models on the rat‐walk

  2016cites this paper
• ALS Patient Stem Cells for Unveiling Disease Signatures of Motoneuron Susceptibility: Perspectives on the Deadly Mitochondria, ER Stress and Calcium Triad

  2015cites this paper
• Degradation of misfolded proteins in neurodegenerative diseases: therapeutic targets and strategies

  2015cites this paper
• TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.

  2015cites this paper
• Autophagy in neuronal cells: general principles and physiological and pathological functions

  2015influential citation
• Familial Amyotrophic Lateral Sclerosis.

  2015cites this paper
• An insoluble frontotemporal lobar degeneration-associated TDP-43 C-terminal fragment causes neurodegeneration and hippocampus pathology in transgenic mice.

  2015cites this paper
• Molecular network of neuronal autophagy in the pathophysiology and treatment of depression

  2015influential citation
• Exploring new pathways of neurodegeneration in ALS: the role of mitochondria quality control.

  2015cites this paper
• Initial gene vector dosing for studying symptomatology of amyotrophic lateral sclerosis in non‐human primates

  2015cites this paper
• The autophagy-lysosomal pathway

  2015cites this paper
• Protein recycling pathways in neurodegenerative diseases

  2014cites this paper
• An investigation of recent and novel genetic variants that are associated with the pathogenesis of amyotrophic lateral sclerosis and their implications on phenotypes of the disease

  2014influential citation
• Boning up on autophagy

  2014cites this paper
• Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

  2014cites this paper
• [Genetic coherence between hereditary amyotrophic lateral sclerosis and frontotemporal dementia].

  2014cites this paper
• African‐American TOMM40'523‐APOE haplotypes are admixture of West African and Caucasian alleles

  2014cites this paper
• The genetics and spread of Amyotrophic Lateral Sclerosis

  2014cites this paper
• Ubiquitin receptors and protein quality control.

  2013influential citation
• Selective forelimb impairment in rats expressing a pathological TDP-43 25 kDa C-terminal fragment to mimic amyotrophic lateral sclerosis.

  2013cites this paper
• Ubiquilin 2 Is Not Associated with Tau Pathology

  2013cites this paper
• Role of stearoyl-CoA desaturase-1 in maintaining muscle activity : study of a lesion model for understanding the meatbolic alterations characteristics of amyotrophic lateral sclerosis

  2013cites this paper
• SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

  2013cites this paper
• RNA quality control and protein aggregates in amyotrophic lateral sclerosis: A review

  2013cites this paper
• Complexity of familial amyotrophic lateral sclerosis

  2012cites this paper
• Dysregulation of the Autophagy-Endolysosomal System in Amyotrophic Lateral Sclerosis and Related Motor Neuron Diseases

  2012cites this paper
• Amyotrophic lateral sclerosis, frontotemporal lobar dementia, and p62

  2012cites this paper
• The genetics and neuropathology of amyotrophic lateral sclerosis

  2012cites this paper
• Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.

  2012influential citation