Cargando…

Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing

Aprataxin (APTX) deficiency causes progressive cerebellar degeneration, ataxia and oculomotor apraxia in man. Cell free assays and crystal structure studies demonstrate a role for APTX in resolving 5′-adenylated nucleic acid breaks, however, APTX function in vertebrates remains unclear due to the la...

Descripción completa

Detalles Bibliográficos
Autores principales:	Carroll, Jean, Page, Tristan K.W., Chiang, Shih-Chieh, Kalmar, Bernadett, Bode, David, Greensmith, Linda, Mckinnon, Peter J, Thorpe, Julian R., Hafezparast, Majid, El-Khamisy, Sherif F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2015
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291253/ https://www.ncbi.nlm.nih.gov/pubmed/25274775 http://dx.doi.org/10.1093/hmg/ddu500

Ejemplares similares

Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin
por: El-Khamisy, Sherif F., et al.
Publicado: (2009)

A comprehensive assessment of the SOD1(G93A) low-copy transgenic mouse, which models human amyotrophic lateral sclerosis
por: Acevedo-Arozena, Abraham, et al.
Publicado: (2011)

Mitochondrial protein-linked DNA breaks perturb mitochondrial gene transcription and trigger free radical–induced DNA damage
por: Chiang, Shih-Chieh, et al.
Publicado: (2017)

Regional Differences in Heat Shock Protein 25 Expression in Brain and Spinal Cord Astrocytes of Wild-Type and SOD1 (G93A) Mice
por: San Gil, Rebecca, et al.
Publicado: (2021)

Plasma Neurofilament Heavy Chain Levels Correlate to Markers of Late Stage Disease Progression and Treatment Response in SOD1(G93A) Mice that Model ALS
por: Lu, Ching-Hua, et al.
Publicado: (2012)

Cellular Chaperones As Therapeutic Targets in ALS to Restore Protein Homeostasis and Improve Cellular Function
por: Kalmar, Bernadett, et al.
Publicado: (2017)

Activation of the heat shock response in a primary cellular model of motoneuron neurodegeneration-evidence for neuroprotective and neurotoxic effects
por: Kalmar, Bernadett, et al.
Publicado: (2009)

Complementation of aprataxin deficiency by base excision repair enzymes
por: Çağlayan, Melike, et al.
Publicado: (2015)

Molecular Chaperone Mediated Late-Stage Neuroprotection in the SOD1(G93A) Mouse Model of Amyotrophic Lateral Sclerosis
por: Novoselov, Sergey S., et al.
Publicado: (2013)

CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response
por: Becherel, Olivier J., et al.
Publicado: (2010)

Enhanced Expression of TRAP1 Protects Mitochondrial Function in Motor Neurons under Conditions of Oxidative Stress
por: Clarke, Benjamin E., et al.
Publicado: (2022)

Structure of an Aprataxin–DNA complex with insights into AOA1 Neurodegenerative Disease
por: Tumbale, Percy, et al.
Publicado: (2011)

Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity
por: Tumbale, Percy, et al.
Publicado: (2013)

Complementation of aprataxin deficiency by base excision repair enzymes in mitochondrial extracts
por: Çağlayan, Melike, et al.
Publicado: (2017)

miR-424 acts as a tumor radiosensitizer by targeting aprataxin in cervical cancer
por: Wang, Xia, et al.
Publicado: (2016)

Cytoplasmic dynein heavy chain: the servant of many masters
por: Schiavo, Giampietro, et al.
Publicado: (2013)

The Legs at odd angles (Loa) Mutation in Cytoplasmic Dynein Ameliorates Mitochondrial Function in SOD1(G93A) Mouse Model for Motor Neuron Disease
por: El-Kadi, Ali Morsi, et al.
Publicado: (2010)

ATM Deficiency Results in Accumulation of DNA-Topoisomerase I Covalent Intermediates in Neural Cells
por: Alagoz, Meryem, et al.
Publicado: (2013)

In vivo imaging of axonal transport in murine motor and sensory neurons
por: Gibbs, Katherine L., et al.
Publicado: (2016)

Regional differences in the inflammatory and heat shock response in glia: implications for ALS
por: Clarke, Benjamin E., et al.
Publicado: (2019)

Expression of Kv3.1b potassium channel is widespread in macaque motor cortex pyramidal cells: A histological comparison between rat and macaque
por: Soares, David, et al.
Publicado: (2017)

SUMO modification of the neuroprotective protein TDP1 facilitates chromosomal single-strand break repair
por: Hudson, Jessica J.R., et al.
Publicado: (2012)

Versatility in phospho-dependent molecular recognition of the XRCC1 and XRCC4 DNA-damage scaffolds by aprataxin-family FHA domains
por: Cherry, Amy L., et al.
Publicado: (2015)

Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene
por: Rana, Abdul Qayyum, et al.
Publicado: (2013)

DNA(3′)pp(5′)G de-capping activity of aprataxin: effect of cap nucleoside analogs and structural basis for guanosine recognition
por: Chauleau, Mathieu, et al.
Publicado: (2015)

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3′-phosphate and 3′-phosphoglycolate ends
por: Takahashi, Tetsuya, et al.
Publicado: (2007)

A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice
por: Kieran, Dairin, et al.
Publicado: (2005)

Hallmarks of cancer and hallmarks of aging
por: Blagosklonny, Mikhail V.
Publicado: (2022)

Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS
por: Luisier, Raphaelle, et al.
Publicado: (2018)

Widespread FUS mislocalization is a molecular hallmark of amyotrophic lateral sclerosis
por: Tyzack, Giulia E, et al.
Publicado: (2019)

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro
por: Wilson, Emma R., et al.
Publicado: (2018)

Inhibiting p38 MAPK alpha rescues axonal retrograde transport defects in a mouse model of ALS
por: Gibbs, Katherine L., et al.
Publicado: (2018)

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration
por: Melamed, Ze’ev, et al.
Publicado: (2019)

Functional skeletal muscle model derived from SOD1-mutant ALS patient iPSCs recapitulates hallmarks of disease progression
por: Badu-Mensah, Agnes, et al.
Publicado: (2020)

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease
por: Kalmar, Bernadett, et al.
Publicado: (2017)

Microglial Expression of the Wnt Signaling Modulator DKK2 Differs between Human Alzheimer’s Disease Brains and Mouse Neurodegeneration Models
por: Aghaizu, Nozie D., et al.
Publicado: (2023)

Inhibition of the cGAS‐STING pathway ameliorates the premature senescence hallmarks of Ataxia‐Telangiectasia brain organoids
por: Aguado, Julio, et al.
Publicado: (2021)

Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging
por: Trani, Jean Philippe, et al.
Publicado: (2022)

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity
por: Joyce, Peter I., et al.
Publicado: (2015)

Superoxide Dismutases (SODs) and SOD Mimetics
por: Borgstahl, Gloria E. O., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_joskrvr2p6lvf4r0ktvticdhqu