DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria (Q64061414)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31110700%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

review article

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title

DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria (English)

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27 April 2020

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27 April 2020

author name string

Luis Bermúdez-Guzmán

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1

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language of work or name

English

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publication date

9 May 2019

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Translational Neurodegeneration

27 April 2020

published in

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27 April 2020

volume

8

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27 April 2020

issue

1

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page(s)

14

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Creative Commons Attribution 4.0 International

27 April 2020

copyright license

start time

9 May 2019

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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12 December 2020

DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway

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Movement of mitochondria in the axons and dendrites of cultured hippocampal neurons

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Mechanism and regulation of human non-homologous DNA end-joining

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DNA single-strand breaks and neurodegeneration

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A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration.

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The molecular architecture of the mammalian DNA repair enzyme, polynucleotide kinase

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Consequences of mutations in human DNA polymerase gamma.

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Polyglutamine-expanded ataxin-3 activates mitochondrial apoptotic pathway by upregulating Bax and downregulating Bcl-xL.

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Involvement of polynucleotide kinase in a poly(ADP-ribose) polymerase-1-dependent DNA double-strand breaks rejoining pathway

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The contribution of the DNA damage response to neuronal viability

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12 December 2020

TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo

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Nmnat delays axonal degeneration caused by mitochondrial and oxidative stress

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Mitochondrial fragmentation in neurodegeneration

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Single-strand break repair and genetic disease

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Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

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DNA repair deficiency and neurological disease

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Differential DNA damage signaling accounts for distinct neural apoptotic responses in ATLD and NBS

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Oxidative stress induces degradation of mitochondrial DNA

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Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

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DNA 3'-phosphatase activity is critical for rapid global rates of single-strand break repair following oxidative stress

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12 December 2020

Is multiple sclerosis a mitochondrial disease?

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12 December 2020

The genesis of cerebellar interneurons and the prevention of neural DNA damage require XRCC1

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12 December 2020

Mechanisms of dealing with DNA damage in terminally differentiated cells.

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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

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12 December 2020

Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex

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Mitochondrial dysfunction in NnaD mutant flies and Purkinje cell degeneration mice reveals a role for Nna proteins in neuronal bioenergetics

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Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

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The DNA Damage Response: Making It Safe to Play with Knives

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Role of tyrosyl-DNA phosphodiesterase (TDP1) in mitochondria

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12 December 2020

To live or to die: a matter of processing damaged DNA termini in neurons

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12 December 2020

Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair

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12 December 2020

DNA ligase III is critical for mtDNA integrity but not Xrcc1-mediated nuclear DNA repair

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12 December 2020

Region-specific expression of mitochondrial complex I genes during murine brain development

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12 December 2020

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

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12 December 2020

Apoptosis induced by persistent single-strand breaks in mitochondrial genome: critical role of EXOG (5'-EXO/endonuclease) in their repair

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Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

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12 December 2020

Compromised mitochondrial complex II in models of Machado-Joseph disease.

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12 December 2020

Role of human DNA glycosylase Nei-like 2 (NEIL2) and single strand break repair protein polynucleotide kinase 3'-phosphatase in maintenance of mitochondrial genome

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Mitochondrial dysfunction in ataxia-telangiectasia

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12 December 2020

Genes of early-onset epileptic encephalopathies: from genotype to phenotype

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12 December 2020

Role of polynucleotide kinase/phosphatase in mitochondrial DNA repair

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Mitochondrial transport in neurons: impact on synaptic homeostasis and neurodegeneration

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Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias

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12 December 2020

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

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12 December 2020

Tyrosyl-DNA phosphodiesterase 1 (TDP1) repairs DNA damage induced by topoisomerases I and II and base alkylation in vertebrate cells

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12 December 2020

Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration

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12 December 2020

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair

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12 December 2020

Mitochondrial diseases and epilepsy

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12 December 2020

Minimizing the damage: repair pathways keep mitochondrial DNA intact

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12 December 2020

The interaction between polynucleotide kinase phosphatase and the DNA repair protein XRCC1 is critical for repair of DNA alkylation damage and stable association at DNA damage sites

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12 December 2020

Phosphorylation of PNKP by ATM prevents its proteasomal degradation and enhances resistance to oxidative stress

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12 December 2020

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

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12 December 2020

Physiologic brain activity causes DNA double-strand breaks in neurons, with exacerbation by amyloid-β

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12 December 2020

The response to DNA damage during differentiation: pathways and consequences.

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12 December 2020

Mitochondrial calcium uptake capacity modulates neocortical excitability.

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The maintenance of mitochondrial DNA integrity--critical analysis and update

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12 December 2020

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

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12 December 2020

The role of TDP1 and APTX in mitochondrial DNA repair

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12 December 2020

Maintaining genome stability in the nervous system

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Impulse conduction increases mitochondrial transport in adult mammalian peripheral nerves in vivo

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The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.

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12 December 2020

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies

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12 December 2020

Defective mitophagy in XPA via PARP-1 hyperactivation and NAD(+)/SIRT1 reduction.

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12 December 2020

Molecular pathogenesis of polymerase γ-related neurodegeneration

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12 December 2020

Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders

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12 December 2020

DNA damage and its links to neurodegeneration

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12 December 2020

Mitophagy of damaged mitochondria occurs locally in distal neuronal axons and requires PINK1 and Parkin

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12 December 2020

Unique function of Kinesin Kif5A in localization of mitochondria in axons

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12 December 2020

Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3

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12 December 2020

Mechanisms of distal axonal degeneration in peripheral neuropathies.

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12 December 2020

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

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12 December 2020

Mitochondrial dynamics and inherited peripheral nerve diseases.

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12 December 2020

Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability

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12 December 2020

Mitochondrial dysfunction and seizures: the neuronal energy crisis

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12 December 2020

The Response to Oxidative DNA Damage in Neurons: Mechanisms and Disease

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12 December 2020

Nuclear DNA damage signalling to mitochondria in ageing

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12 December 2020

Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease

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12 December 2020

Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia

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12 December 2020

'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'.

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12 December 2020

ATM Mutations in Cancer: Therapeutic Implications

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12 December 2020

Neurological disorders associated with DNA strand-break processing enzymes

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12 December 2020

Mitochondrial Dynamics Decrease Prior to Axon Degeneration Induced by Vincristine and are Partially Rescued by Overexpressed cytNmnat1

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12 December 2020

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

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12 December 2020

Brain aging and neurodegeneration: from a mitochondrial point of view

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12 December 2020

Structural and functional characterization of the PNKP-XRCC4-LigIV DNA repair complex

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12 December 2020

Mitochondrial protein-linked DNA breaks perturb mitochondrial gene transcription and trigger free radical-induced DNA damage.

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12 December 2020

The Truncated C-terminal Fragment of Mutant ATXN3 Disrupts Mitochondria Dynamics in Spinocerebellar Ataxia Type 3 Models.

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12 December 2020

Transcriptional consequences of XPA disruption in human cell lines.

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12 December 2020

Genome integrity and disease prevention in the nervous system

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Mitochondrial Dysfunction in Chemotherapy-Induced Peripheral Neuropathy (CIPN).

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12 December 2020

Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model.

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12 December 2020

Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.

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12 December 2020

Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria.

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12 December 2020

Persistent 3'-phosphate termini and increased cytotoxicity of radiomimetic DNA double-strand breaks in cells lacking polynucleotide kinase/phosphatase despite presence of an alternative 3'-phosphatase.

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12 December 2020

Mitochondrial ataxias

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12 December 2020

Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations

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12 December 2020

Mitochondrial redox sensing by the kinase ATM maintains cellular antioxidant capacity

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12 December 2020

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

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12 December 2020

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

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12 December 2020

ATM is activated by ATP depletion and modulates mitochondrial function through NRF1

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12 December 2020

10.1186/S40035-019-0156-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31110700%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31110700%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

PubMed publication ID

31110700

1 reference