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ATP + 5'-dephospho-DNA
ADP + 5'-phospho-DNA
-
-
-
r
ATP + 5'-dephospho-DNA
ADP + 5'-phospho-DNA
ATP + 5'-dephospho-RNA
ADP + 5'-phospho-RNA
ATP + 5'-dsRNA
ADP + 5'-phospho-dsRNA
-
-
-
-
?
ATP + 5'-hydroxyl poly(A)
?
-
-
-
-
?
ATP + 5'-hydroxyl poly(C)
?
-
-
-
-
?
ATP + synthetic oligonucleotide
ADP + oligonucleotide 5'-phosphate
CTP + 5'-dephospho-DNA
CDP + 5'-phospho-DNA
CTP + 5'-dephospho-RNA
CDP + 5'-phospho-RNA
-
less effective than ATP
-
?
GTP + 5'-dephospho-DNA
GDP + 5'-phospho-DNA
[gamma-S]GTP + 5'-dephospho-RNA
[gamma-S]GDP + 5'-phospho-RNA
-
less effective than ATP
-
?
additional information
?
-
ATP + 5'-dephospho-DNA
ADP + 5'-phospho-DNA
-
-
-
?
ATP + 5'-dephospho-DNA
ADP + 5'-phospho-DNA
-
-
-
?
ATP + 5'-dephospho-DNA
ADP + 5'-phospho-DNA
-
-
-
?
ATP + 5'-dephospho-DNA
ADP + 5'-phospho-DNA
-
-
-
-
?
ATP + 5'-dephospho-DNA
ADP + 5'-phospho-DNA
-
-
-
-
r
ATP + 5'-dephospho-DNA
ADP + 5'-phospho-DNA
-
-
-
?
ATP + 5'-dephospho-DNA
ADP + 5'-phospho-DNA
-
involved in repair of DNA single strand breaks
-
-
?
ATP + 5'-dephospho-RNA
ADP + 5'-phospho-RNA
-
no activity
-
?
ATP + 5'-dephospho-RNA
ADP + 5'-phospho-RNA
-
much more efficient as substrate than DNA
-
?
ATP + synthetic oligonucleotide
ADP + oligonucleotide 5'-phosphate
-
-
-
-
?
ATP + synthetic oligonucleotide
ADP + oligonucleotide 5'-phosphate
-
5'-hydroxyl poly(A)
-
-
?
ATP + synthetic oligonucleotide
ADP + oligonucleotide 5'-phosphate
-
5'-hydroxyl poly(C)
-
-
?
ATP + synthetic oligonucleotide
ADP + oligonucleotide 5'-phosphate
-
low activity with 5'-hydroxyl poly(I)
-
-
?
ATP + synthetic oligonucleotide
ADP + oligonucleotide 5'-phosphate
-
5'-hydroxyl poly(dA), at 6% of 5'-hydroxyl poly(A)
-
-
?
CTP + 5'-dephospho-DNA
CDP + 5'-phospho-DNA
-
-
-
?
CTP + 5'-dephospho-DNA
CDP + 5'-phospho-DNA
-
CTP gives 15% of the activity with ATP
-
?
GTP + 5'-dephospho-DNA
GDP + 5'-phospho-DNA
-
-
-
?
GTP + 5'-dephospho-DNA
GDP + 5'-phospho-DNA
-
GTP gives 15% of the activity with ATP
-
?
additional information
?
-
-
enzyme also has DNA 3'-phosphatase activity
-
-
?
additional information
?
-
-
enzyme also has DNA 3'-phosphatase activity
-
-
?
additional information
?
-
-
PALF nuclease activity acts on single-stranded DNA or overhangs of duplex substrates. PALF does not open DNA hairpins. Reduction of PALF in vivo reduces the joining of incompatible DNA ends, PALF can function in concert with other nonhomologous DNA end joining proteins. PALF is able to resect 3 overhanging nucleotides and permit XRCC4-DNA ligase IV to complete the joining process in a manner that is as efficient as Artemis. Role for polynucleotide kinase and aprataxin-like forkhead-associated, PALF, in nonhomologous DNA end joining
-
-
?
additional information
?
-
-
PNKP function is modulated by interaction with the DNA repair scaffold proteins XRCC1 and XRCC4, which is mediated by binding of the PNKP forkhead-associated domain to phosphorylated motifs on XRCC1 and XRCC4, overview. Phosphorylation-independent interaction between PNKP and XRCC1 in human cells, since a non-phosphorylated XRCC1S518A/T519A/T523A triple mutant is also bound
-
-
?
additional information
?
-
-
recombinant Nol9 phosphorylates single-stranded and double-stranded RNA and DNA substrates with high efficiency, mainly pre-60S rRNP particles. Nol9 is able to transfer a phosphate to 5' ends of dsRNAs, but cannot phosphorylate 3' termini
-
-
?
additional information
?
-
-
the enzyme plays a role in tRNA splicing. The ATP-binding and/or hydrolysis capacity of CLP1 is required to enhance pre-tRNA cleavage
-
-
?
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2-(1-hydroxyundecyl)-1-(4-nitrophenylamino)-6-phenyl-6,7a-dihydro-1H-pyrrolo[3,4-b]pyridine-5,7(2H,4aH)-dione
A12B4C3, noncompetitive inhibition
2-(1-hydroxyundecyl)-1-(4-nitrophenylamino)-6-phenyl-6,7a-dihydro-1H-pyrrolo[3,4-b]pyridine-5,7(2H,4aH)-dione
-
A12B4C3
2-(hydroxy(3,4,5-trimethoxyphenyl)methyl)-1-(4-nitrophenylamino)-6-phenyl-6,7a-dihydro-1H-pyrrolo[3,4-b]pyridine-5,7(2H,4aH)-dione
-
A6B4C3
2-(hydroxy(phenyl)methyl)-1-(4-nitrophenylamino)-6-phenyl-6,7a-dihydro-1H-pyrrolo[3,4-b]pyridine-5,7(2H,4aH)-dione
-
A1B4C3
2-(hydroxy(thiophen-2-yl)methyl)-6-methyl-1-(phenylamino)-6,7a-dihydro-1H-pyrrolo[3,4-b]pyridine-5,7(2H,4aH)-dione
-
A39B1C2
5'-Hydroxyl poly(I)
-
in combination with 5'-hydroxyl poly(A) or poly(C)
beta,gamma-imidoadenosine 5'-triphosphate
-
binds with high affinity, similar to ATP
Mn2+
-
inhibition above 1 mM
Ribonucleoside 3'-phosphates
-
weak
tert-butyl 2-(1-hydroxy-2,2-diphenylethyl)-6-methyl-5,7-dioxo-2,4a,5,6,7,7a-hexahydro-1H-pyrrolo[3,4-b]pyridine-1yl-carbamate
-
A26B11C2
Zn2+
-
inhibition in presence of Mg2+
additional information
-
productive engagement of a 3'-phosphate terminus may block access of a 5'-hydroxyl to the kinase active site
-
Cu2+
-
-
Cu2+
-
inhibits in presence of MgCl2
KCl
-
-
KCl
-
weak inhibition, 50% at about 0.3 M
NaCl
-
-
NaCl
-
weak inhibition, 50% at about 0.3 M
NH4+
-
-
NH4+
-
50% at about 0.3 M
phosphate
-
-
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Abortion, Habitual
Natural killer cells and pregnancy outcomes in women with recurrent miscarriage and infertility: a systematic review.
Abortion, Habitual
The "killer cell story" in recurrent miscarriage: Association between activated peripheral lymphocytes and uterine natural killer cells.
Abortion, Habitual
[IMMUNE DISORDERS AND THEIR ROLE IN ABORTION].
Abortion, Spontaneous
Concordance between peripheral and decidual NK cell subsets and killer immunoglobulin-like receptors in women with recurrent spontaneous miscarriages.
Abortion, Spontaneous
Natural killer cells and pregnancy outcomes in women with recurrent miscarriage and infertility: a systematic review.
Abortion, Spontaneous
Peripheral blood NK cells reflect changes in decidual NK cells in women with recurrent miscarriages.
Abortion, Spontaneous
Rapamycin prevents spontaneous abortion by triggering decidual stromal cell autophagy-mediated NK cell residence.
Abortion, Spontaneous
Tim-3 Is Upregulated in NK Cells during Early Pregnancy and Inhibits NK Cytotoxicity toward Trophoblast in Galectin-9 Dependent Pathway.
Acquired Immunodeficiency Syndrome
Mutational analysis defines the 5'-kinase and 3'-phosphatase active sites of T4 polynucleotide kinase.
Adenocarcinoma
Identification of a small molecule inhibitor of the human DNA repair enzyme polynucleotide kinase/phosphatase.
Adenoma
Polynucleotide kinase 3' phosphatase variant, dietary variables and risk of adenoma recurrence in the Polyp Prevention Trial.
Anemia
Vitamin B6 metabolism in anaemic and alcoholic man.
Anemia, Iron-Deficiency
Vitamin B6 metabolism in anaemic and alcoholic man.
Anemia, Sideroblastic
Vitamin B6 metabolism in anaemic and alcoholic man.
Apraxias
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.
Breast Neoplasms
A potential role for peripheral natural killer cell activity induced by preoperative chemotherapy in breast cancer patients.
Carcinogenesis
Appearance of artefacts when using 32P-postlabelling to investigate DNA adduct formation by bile acids in vitro: lack of evidence for covalent binding.
Carcinoma
Development of a positive-negative selection procedure for gene targeting in fish cells.
Carcinoma
Identification of a small molecule inhibitor of the human DNA repair enzyme polynucleotide kinase/phosphatase.
Carcinoma, Hepatocellular
Analysis of loss of nuclear RNA in azo dye-induced hepatoma by DNA-RNA competitive hybridization.
Diabetes, Gestational
Expression of Natural Cytotoxicity Receptors on and Intracellular Cytokine Production by NK Cells in Women with Gestational Diabetes Mellitus.
Immune System Diseases
The impact of previous live births on peripheral and uterine natural killer cells in patients with recurrent miscarriage.
Infections
Bacteriophage T4 polynucleotide kinase triggers degradation of mRNAs.
Infections
Bacteriophage T4-induced anticodon-loop nuclease detected in a host strain restrictive to RNA ligase mutants.
Infections
Host transfer RNA cleavage and reunion in T4-infected Escherichia coli CTr5x.
Infections
In vitro reconstitution of anticodon nuclease from components encoded by phage T4 and Escherichia coli CTr5X.
Infections
Phage and host genetic determinants of the specific anticodon loop cleavages in bacteriophage T4-infected Escherichia coli CTr5X.
Infections
[Biosynthesis of early enzymes induced by bacteriophage T4]
Infertility
Natural killer cells and pregnancy outcomes in women with recurrent miscarriage and infertility: a systematic review.
Intellectual Disability
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.
Leukemia
Single prokaryotic cell isolation and total transcript amplification protocol for transcriptomic analysis.
Leukemia, Myeloid, Acute
CBLB ablation with CRISPR/Cas9 enhances cytotoxicity of human placental stem cell-derived NK cells for cancer immunotherapy.
Lymphatic Metastasis
A potential role for peripheral natural killer cell activity induced by preoperative chemotherapy in breast cancer patients.
Lymphatic Metastasis
Immune correlates of the differing pathological and therapeutic effects of neoadjuvant chemotherapy in breast cancer.
Lymphoma
Maternal-iron-deficiency effects on peritoneal macrophage and peritoneal natural-killer-cell cytotoxicity in rat pups.
Microcephaly
A Novel c.968C?>?T homozygous Mutation in the Polynucleotide Kinase 3'?-?Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay.
Microcephaly
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.
Microcephaly
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
Microphthalmos
Rapamycin prevents spontaneous abortion by triggering decidual stromal cell autophagy-mediated NK cell residence.
Neoplasm Metastasis
A potential role for peripheral natural killer cell activity induced by preoperative chemotherapy in breast cancer patients.
Neoplasm Metastasis
Immune correlates of the differing pathological and therapeutic effects of neoadjuvant chemotherapy in breast cancer.
Neoplasm Metastasis
Immune factors associated with the pathological and therapeutic effects of preoperative chemotherapy in patients with breast cancer.
Neoplasms
A label-free bioluminescent sensor for real-time monitoring polynucleotide kinase activity.
Neoplasms
A potential role for peripheral natural killer cell activity induced by preoperative chemotherapy in breast cancer patients.
Neoplasms
CBLB ablation with CRISPR/Cas9 enhances cytotoxicity of human placental stem cell-derived NK cells for cancer immunotherapy.
Neoplasms
Characterization and ex vivo Expansion of Human Placenta-Derived Natural Killer Cells for Cancer Immunotherapy.
Neoplasms
DNA end-processing enzyme polynucleotide kinase as a potential target in the treatment of cancer.
Neoplasms
Identification of a small molecule inhibitor of the human DNA repair enzyme polynucleotide kinase/phosphatase.
Neoplasms
Immune correlates of the differing pathological and therapeutic effects of neoadjuvant chemotherapy in breast cancer.
Neoplasms
Immune factors associated with the pathological and therapeutic effects of preoperative chemotherapy in patients with breast cancer.
Neoplasms
Maternal-iron-deficiency effects on peritoneal macrophage and peritoneal natural-killer-cell cytotoxicity in rat pups.
Neoplasms
Mimic Peroxidase- and Bi2S3 Nanorod-Based Photoelectrochemical Biosensor for Signal-On Detection of Polynucleotide Kinase.
Neoplasms
Problem-solving test: analysis of DNA damage recognizing proteins in yeast and human cells.
Neoplasms
Renal cell tumors convert natural killer cells to a proangiogenic phenotype.
Neoplasms
Single-Molecule Detection of Polynucleotide Kinase Based on Phosphorylation-Directed Recovery of Fluorescence Quenched by Au Nanoparticles.
Neurodegenerative Diseases
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.
Pelvic Inflammatory Disease
A novel fluorescence method for activity assay and drug screening of T4 PNK by coupling rGO with ligase reaction.
Polyneuropathies
Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.
Pregnancy Complications
[ACTIVATION OF PERIPHERAL NATURAL KILLER CELLS IN WOMEN WITH REPEATED EARLY PREGNANCY LOSS].
Respiratory Insufficiency
Prepacked naloxone administration for suspected opioid overdose in the era of illicitly manufactured fentanyl: a retrospective study of regional poison center data.
Seizures
A Novel c.968C?>?T homozygous Mutation in the Polynucleotide Kinase 3'?-?Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay.
Seizures
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.
Seizures
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
Vaccinia
A nuclease that cuts specifically in the ribosome binding site of some T4 mRNAs.
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metabolism
-
polynucleotide 5-kinase Nol9 is involved in ribosomal RNA processing
malfunction
-
depletion of Nol9 leads to a severe impairment of ribosome biogenesis. Upon Nol9 knockdown, specific maturation defect at the 5' end of the predominant 5.8S short-form rRNA (5.8SS) occur, possibly due to the Nol9 requirement for 5'>3' exonucleolytic trimming
malfunction
-
knockdown of polynucleotide kinase and aprataxin-like forkhead-associated using siRNA reduces rejoining of two incompatible I-SceI-generated DNA ends by 50%
malfunction
-
PNKP depletion in human cells renders cells sensitive to camptothecin. A small molecule inhibitor of PNKP phosphatase activity enhances the sensitivity of cells to IR and camptothecin. Enzyme mutational defects can cause neurological disorders with various symptoms, e.g. a severe neurological autosomal recessive disease characterized by microcephaly, intractable seizures and developmental delay
malfunction
-
mutations lead to a loss of enzyme interaction with the tRNA splicing endonuclease complex, largely reduced pretRNA cleavage activity, and accumulation of linear tRNA introns. The affected individuals develop severe motor-sensory defects, cortical dysgenesis, and microcephaly
malfunction
-
the lack of CLP1 kinase activity leads to progressive motor neuron loss and accumulation of novel 5' leader-5' exon tRNA fragments
physiological function
-
bifunctional polynucleotide kinase/phosphatase contains both DNA 5'-kinase and 3'-phosphatase activities required for restoration of 3'-hydroxyls and 5'-phosphates needed to seal the broken DNA. Cellular DNA is constantly assaulted by ionizing radiation and reactive oxygen species. This damage, along with the products of some DNA repair enzymes, may contain 5' hydroxyls or 3' phosphates. These are converted by PNK to 5' phosphates and 3' hydroxyls, which are required for DNA polymerases and DNA ligases to complete repair of the damaged DNA. Productive engagement of a 3'-phosphate terminus may block access of a 5'-hydroxyl to the kinase active site
physiological function
-
polynucleotide kinase and aprataxin-like forkhead-associated protein (PALF) acts as both a single-stranded DNA endonuclease and a single-stranded DNA 3 exonuclease and can participate in DNA end joining in a biochemical system, they use the forkhead-associated domain to bind to x-ray repair complementing defective repair in Chinese hamster cells 4, XRCC4, overview
physiological function
-
polynucleotide kinase/phosphatase is an essential enzyme for the repair of damaged DNA termini. PNKP possesses both 5'-kinase and 3'-phosphatase activities that are frequently required for processing of single- and double-strand break termini
physiological function
-
the nonribosomal protein Nol9 is a polynucleotide 5'-kinase that sediments primarily with the pre-60S and pre-40S ribosomal particles in HeLa nuclear extracts. The polynucleotide kinase activity of Nol9 is required for processing of large subunit rRNA and efficient generation of the 5.8S and 28S rRNAs from the 32S precursor
physiological function
-
PNKP stably associates with ataxin-3. Purified wild-type ataxin-3 stimulates, and the mutant form specifically inhibits, PNKP's 3'-phosphatase activity in vitro. ATXN3-deficient cells also show decreased PNKP activity
physiological function
-
polynucleotide kinase phosphatase is a DNA repair factor with dual enzymatic functions, i.e., phosphorylation of 5'-end and dephosphorylation of 3'-end, which are prerequisites for DNA ligation and, thus, is involved in multiple DNA repair pathways, i.e., base excision repair, single-strand break repair and double-strand break repair through nonhomologous end joining
additional information
-
molecular architecture of the enzyme, overview. The mammalian enzyme preferentially phosphorylates 5'-hydroxyl termini within nicked, gapped or double-strand breaks with single-stranded 3'-overhanging ends, whereas single-stranded 5'-termini or blunt double-stranded ends are phosphorylated less efficiently. The selective recognition of the larger, double-stranded DNA substrates is effected by a broad DNA recognition groove composed of two distinct positively charged surfaces. Mechanisms of single-strand break and double-strand break repairs, and of base excision repair, overview
additional information
-
PNK domain architecture, overview
additional information
-
the nuclease activity of polynucleotide kinase and aprataxin-like forkhead-associated is not affected by Ku or XRCC4-DNA ligase IV
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Maunders, M.J.
Polynucleotide kinase (EC 2.7.1.78)
Methods Mol. Biol.
16
343-357
1993
Escherichia phage T2, Tequatrovirus T4, Enterobacteria phage T6, Bos taurus, Homo sapiens, Mesocricetus auratus, no activity in Escherichia coli, Rattus norvegicus
brenda
Shuman, S.; Hurwitz, J.
5-Hydroxyl polyribonucleotide kinase from HeLa cell nuclei. Purification and properties
J. Biol. Chem.
254
10396-10404
1979
Homo sapiens
brenda
Fanta, M.; Zhang, H.; Bernstein, N.; Glover, M.; Karimi-Busheri, F.; Weinfeld, M.
Production, characterization, and epitope mapping of monoclonal antibodies against human polydeoxyribonucleotide kinase
Hybridoma
20
237-242
2001
Homo sapiens
brenda
Mani, R.S.; Karimi-Busheri, F.; Fanta, M.; Cass, C.E.; Weinfeld, M.
Spectroscopic studies of DNA and ATP binding to human polynucleotide kinase: evidence for a ternary complex
Biochemistry
42
12077-12084
2003
Homo sapiens
brenda
Karimi-Busheri, F.; Rasouli-Nia, A.; Allalunis-Turner, J.; Weinfeld, M.
Human polynucleotide kinase participates in repair of DNA double-strand breaks by nonhomologous end joining but not homologous recombination
Cancer Res.
67
6619-6625
2007
Homo sapiens
brenda
Audebert, M.; Salles, B.; Weinfeld, M.; Calsou, P.
Involvement of polynucleotide kinase in a poly(ADP-ribose) polymerase-1-dependent DNA double-strand breaks rejoining pathway
J. Mol. Biol.
356
257-265
2006
Homo sapiens
brenda
Dobson, C.J.; Allinson, S.L.
The phosphatase activity of mammalian polynucleotide kinase takes precedence over its kinase activity in repair of single strand breaks
Nucleic Acids Res.
34
2230-2237
2006
Homo sapiens
brenda
Freschauf, G.K.; Karimi-Busheri, F.; Ulaczyk-Lesanko, A.; Mereniuk, T.R.; Ahrens, A.; Koshy, J.M.; Rasouli-Nia, A.; Pasarj, P.; Holmes, C.F.; Rininsland, F.; Hall, D.G.; Weinfeld, M.
Identification of a small molecule inhibitor of the human DNA repair enzyme polynucleotide kinase/phosphatase
Cancer Res.
69
7739-7746
2009
Tequatrovirus T4, Homo sapiens, Schizosaccharomyces pombe, Mus musculus (Q9JLV6)
brenda
Whiteside, J.R.; Box, C.L.; McMillan, T.J.; Allinson, S.L.
Cadmium and copper inhibit both DNA repair activities of polynucleotide kinase
DNA Repair
9
83-89
2010
Homo sapiens
brenda
Freschauf, G.K.; Mani, R.S.; Mereniuk, T.R.; Fanta, M.; Virgen, C.A.; Dianov, G.L.; Grassot, J.M.; Hall, D.G.; Weinfeld, M.
Mechanism of action of an imido-piperidine inhibitor of human polynucleotide kinase/phosphatase
J. Biol. Chem.
285
2351-2360
2010
Homo sapiens (Q96T60)
brenda
Weinfeld, M.; Mani, R.S.; Abdou, I.; Aceytuno, R.D.; Glover, J.N.
Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair
Trends Biochem. Sci.
36
262-271
2011
Tequatrovirus T4, Homo sapiens, Mus musculus, Schizosaccharomyces pombe
brenda
Heindl, K.; Martinez, J.
Nol9 is a novel polynucleotide 5-kinase involved in ribosomal RNA processing
EMBO J.
29
4161-4171
2010
Homo sapiens
brenda
Li, S.; Kanno, S.; Watanabe, R.; Ogiwara, H.; Kohno, T.; Watanabe, G.; Yasui, A.; Lieber, M.R.
Polynucleotide kinase and aprataxin-like forkhead-associated protein (PALF) acts as both a single-stranded DNA endonuclease and a single-stranded DNA 3 exonuclease and can participate in DNA end joining in a biochemical system
J. Biol. Chem.
286
36368-36377
2011
Homo sapiens
brenda
Schellenberg, M.; Williams, R.
DNA end processing by polynucleotide kinase/phosphatase
Proc. Natl. Acad. Sci. USA
108
20855-20856
2011
Homo sapiens, Mus musculus
brenda
Mair, B.; Popow, J.; Mechtler, K.; Weitzer, S.; Martinez, J.
Intron excision from precursor tRNA molecules in mammalian cells requires ATP hydrolysis and phosphorylation of tRNA-splicing endonuclease components
Biochem. Soc. Trans.
41
831-837
2013
Homo sapiens
brenda
Karaca, E.; Weitzer, S.; Pehlivan, D.; Shiraishi, H.; Gogakos, T.; Hanada, T.; Jhangiani, S.N.; Wiszniewski, W.; Withers, M.; Campbell, I.M.; Erdin, S.; Isikay, S.; Franco, L.M.; Gonzaga-Jauregui, C.; Gambin, T.; Gelowani, V.; Hunter, J.V.; Yesil, G.; Koparir, E.; Yilmaz, S.; Brown, M.; Briskin, D.; H, H.a.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function
Cell
157
636-650
2014
Homo sapiens
brenda
Schaffer, A.E.; Eggens, V.R.; Caglayan, A.O.; Reuter, M.S.; Scott, E.; Coufal, N.G.; Silhavy, J.L.; Xue, Y.; Kayserili, H.; Yasuno, K.; Rosti, R.O.; Abdellateef, M.; Caglar, C.; Kasher, P.R.; Cazemier, J.L.; Weterman, M.A.; Cantagrel, V.; Cai, N.; Zweier, C.; Altunoglu, U.; Satkin, N.B.; Aktar, F.; Tuysuz, B.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
Cell
157
651-663
2014
Homo sapiens (Q92989), Homo sapiens
brenda
Chatterjee, A.; Saha, S.; Chakraborty, A.; Silva-Fernandes, A.; Mandal, S.M.; Neves-Carvalho, A.; Liu, Y.; Pandita, R.K.; Hegde, M.L.; Hegde, P.M.; Boldogh, I.; Ashizawa, T.; Koeppen, A.H.; Pandita, T.K.; Maciel, P.; Sarkar, P.S.; Hazra, T.K.
The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3-phosphatase in spinocerebellar ataxia type 3 pathogenesis
PLoS Genet.
11
e1004749
2015
Homo sapiens
brenda
Tsukada, K.; Matsumoto, Y.; Shimada, M.
Linker region is required for efficient nuclear localization of polynucleotide kinase phosphatase
PLoS ONE
15
e0239404
2020
Homo sapiens
brenda