Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy - Test2 - elhamkhani - TriplyDB

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

http://www.wikidata.org/entity/Q28203189

about

sameAs

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1 Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?Substrate specificity of tyrosyl-DNA phosphodiesterase I (Tdp1)Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends Novel high-throughput electrochemiluminescent assay for identification of human tyrosyl-DNA phosphodiesterase (Tdp1) inhibitors and characterization of furamidine (NSC 305831) as an inhibitor of Tdp1 Increased expression and activity of repair genes TDP1 and XPF in non-small cell lung cancer A human 5'-tyrosyl DNA phosphodiesterase that repairs topoisomerase-mediated DNA damage Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)Partial complementation of a DNA ligase I deficiency by DNA ligase III and its impact on cell survival and telomere stability in mammalian cells Mutations in PNKP cause microcephaly, seizures and defects in DNA repair Optimal function of the DNA repair enzyme TDP1 requires its phosphorylation by ATM and/or DNA-PK Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1 ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain Molecular pathology of ataxia telangiectasia Topoisomerase I in Human Disease Pathogenesis and Treatments The Response to Oxidative DNA Damage in Neurons: Mechanisms and Disease Pathways for repairing and tolerating the spectrum of oxidative DNA lesions Diseases associated with defective responses to DNA damage Drugging topoisomerases: lessons and challenges Mitochondrial DNA damage and its consequences for mitochondrial gene expression R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias Mechanism of repair of 5′-topoisomerase II–DNA adducts by mammalian tyrosyl-DNA phosphodiesterase 2 Analysis of the Active-Site Mechanism of Tyrosyl-DNA Phosphodiesterase I: A Member of the Phospholipase D Superfamily Repair of topoisomerase I covalent complexes in the absence of the tyrosyl-DNA phosphodiesterase Tdp1.Tyrosyl-DNA phosphodiesterase (Tdp1) participates in the repair of Top2-mediated DNA damage Tyrosyl-DNA phosphodiesterase and the repair of 3'-phosphoglycolate-terminated DNA double-strand breaks.Processing of damaged DNA ends for double-strand break repair in mammalian cells TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function TDP1 overexpression in human cells counteracts DNA damage mediated by topoisomerases I and II ATM deficiency results in accumulation of DNA-topoisomerase I covalent intermediates in neural cells TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo The genesis of cerebellar interneurons and the prevention of neural DNA damage require XRCC1 DNA Topoisomerase I Inhibitors: Chemistry, Biology, and Interfacial Inhibition XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.Autosomal recessive cerebellar ataxias.Identification of phosphotyrosine mimetic inhibitors of human tyrosyl-DNA phosphodiesterase I by a novel AlphaScreen high-throughput assay Yeast Tdp1 regulates the fidelity of nonhomologous end joining.Role of tyrosyl-DNA phosphodiesterase (TDP1) in mitochondria.In vitro complementation of Tdp1 deficiency indicates a stabilized enzyme-DNA adduct from tyrosyl but not glycolate lesions as a consequence of the SCAN1 mutation

P2860

d08d958c2dc6281aabf4f7e309303a52b56b0e32

P248

Q24297360-193221C4-4476-424F-A095-EF390EBBC9EC Q24298259-E0C96961-2513-4385-A715-8F468F3200D4 Q24299565-05F90DC3-28A4-47C6-BEC9-B305C46FFB5A Q24306648-105E3E2E-931D-43DF-9463-978C1B89F751 Q24311803-56082B50-2428-4090-A884-A29D0E1D6E28 Q24318465-C8C7BCFD-88AE-4737-9195-F9637EE9AD97 Q24319904-3EEDC2EB-4A65-4C46-A1B9-5A1F9A525462 Q24337706-E9DC3616-8198-4255-A8E9-7F6192B4C079 Q24557437-9BBC3E65-339B-46B1-B7C2-9DD2BB479329 Q24619372-971BC3DD-BEA8-472B-9D2D-40FC3F31271E Q24630555-B0567EDD-D998-4C56-B2FD-BA37C23D6747 Q24644674-7723C0B1-9F76-4937-A8C9-F9F5B0B61804 Q24651990-B22FCD80-A1A9-4C05-97B5-3EB2D302173D Q24655003-B7F5D7A6-54F6-412A-933B-A398754433C3 Q24672363-3A9279D3-C523-4A34-B286-840E2272B487 Q26749484-DB7F253E-60C3-4CC0-BAF2-E15884585962 Q26768287-B285E6EF-3309-44BA-9CBC-D5D8675CA590 Q26992194-14FD23B1-E754-4DA6-80B6-762651347FDD Q26997852-ABA8A9E2-4722-4D04-A360-FBF5E8C4759D Q27000099-F376556A-9B95-47F2-86C6-A35AAAA9B33D Q27001150-C9F988F0-BF85-43CC-8E74-911B9B843077 Q27318630-9E9FCE30-53F3-4772-8D33-510605920ED9 Q27674755-31F17EB2-F861-43C7-BA51-FCBA60739436 Q27676072-8AA0A661-7CBB-451F-A8AE-B98E76124DDE Q27934003-36C97C66-2B5B-46D8-A1E5-664B3CBA2F74 Q27934837-55524BAE-EAA9-45C9-AC37-E9828BE268AF Q27967652-156D8E57-4C71-4105-851F-422B4257339C Q28000148-D5F4EE20-D74F-4B05-8A17-FF2784DDC7ED Q28118952-AFCF30DE-2795-4973-B4A9-816718A6CF17 Q28288660-F50D555D-F9AA-4C53-91C8-C3A0C9E23B59 Q28486683-A50BA770-B654-4150-9ED0-C2A4CEDCD3C9 Q28509265-D553359F-BCD1-4152-BB5A-14E3C0DCEE7A Q28513565-2EE5F19F-9CB9-42FD-9D51-156E702A2397 Q29400901-B6327C52-0385-463C-AA77-D6E8D3ED66C4 Q30176415-8D860222-156F-49F3-B2EA-773270B7ABE6 Q31078351-32A6E235-48E6-4EC2-8755-458E1018CA53 Q33399360-3E42D6C7-1546-479D-9127-4F7726E8E913 Q33732769-759775F8-75F5-47BC-8041-41A8FDADF719 Q33735624-3B8ED9F1-7FC4-41E6-BFB5-374912A14FBA Q33747764-CEF26452-DD9E-45C5-A93A-554FDB886BB9

P2860

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

http://www.wikidata.org/entity/Q28203189

description

2002 nî lūn-bûn

@nan

2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2002年の論文

@ja

2002年論文

@yue

2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

@zh-mo

2002年論文

@zh-tw

2002年论文

@wuu

name

Mutation of TDP1, encoding a t ...... ataxia with axonal neuropathy

@ast

Mutation of TDP1, encoding a t ...... ataxia with axonal neuropathy

@en

Mutation of TDP1, encoding a t ...... ataxia with axonal neuropathy

@nl

type

label

Mutation of TDP1, encoding a t ...... ataxia with axonal neuropathy

@ast

Mutation of TDP1, encoding a t ...... ataxia with axonal neuropathy

@en

Mutation of TDP1, encoding a t ...... ataxia with axonal neuropathy

@nl

prefLabel

Mutation of TDP1, encoding a t ...... ataxia with axonal neuropathy

@ast

Mutation of TDP1, encoding a t ...... ataxia with axonal neuropathy

@en

Mutation of TDP1, encoding a t ...... ataxia with axonal neuropathy

@nl

P1433

Q28203189-FBF45C16-1966-4510-A752-D595D01A29CF

P1476

Q28203189-594CE889-D8A8-4770-8B78-A96E98967FFD

P2093

Q28203189-1B1C17E4-C4FD-46F4-85E7-1CC04FD630D7

Q28203189-2BAED9CE-E71B-4A00-8853-0FC50E69FB34

Q28203189-34F6B85C-D578-4702-8416-0CE1748C6AFC

Q28203189-6C5B822A-387D-4914-8F9B-0BCDC3CC5D54

Q28203189-9E0F2AED-23E5-46D4-AEAD-F8CA261BC371

Q28203189-A6F6392F-FF87-4A2F-896D-99C83D732A2C

Q28203189-D7874845-550B-49D5-8DD3-745FCADEF7D8

Q28203189-DCBF6FF4-0B80-4FBE-8EFF-479BB0B2F238

Q28203189-E0B2AB64-8988-4148-AAD4-4513A9BC0883

Q28203189-E0FE2AAB-582B-4DB5-909A-4B726D8D9A92

P2860

Q28203189-0D9BF78D-0E29-473E-BB77-BFE90552E65B

Q28203189-0E302134-778B-46A2-85F0-CE329D5E9C75

Q28203189-198AEF55-FCFF-4621-BA98-41CDEE75DAEF

Q28203189-1E5FED47-BDF4-43AA-A560-B91DE43587C0

Q28203189-28BAE0E6-2E1B-4D27-B17D-C1A102A51530

Q28203189-295C76E9-BD85-4116-979E-CD0AB55574D4

Q28203189-4D18C08B-7105-44E0-91B8-01E2CF55263A

Q28203189-4D839EBC-D6A1-4269-BFD9-DD8B8B910A01

Q28203189-50760544-898B-405E-9383-F9717F9E5D2B

Q28203189-51A01179-90A0-43A5-924A-16735B421D49

P2888

Q28203189-7C523851-DE10-4C5D-ADF6-B7899D6769F8

P304

Q28203189-F86E797B-52CF-4BE5-B3F3-107245B53C9A

P31

Q28203189-49A17911-A2DD-4936-A0C8-8709178C0053

P3181

Q28203189-5A08E208-73E3-40F7-A402-C130D0ED6010

P356

Q28203189-29A72168-327D-4B84-8FC6-A3366960C194

P407

Q28203189-8D39F1DA-FF9C-44D3-A9E9-4BF7DA0A2A8A

P433

Q28203189-FF4E351A-4B15-40C1-8340-05C3B332613D

P478

Q28203189-4E1A8F6A-9031-4FB5-893B-B09CF1BD52BC

P50

Q28203189-202CD552-A4D7-47D9-BE8C-F8487A1EA438

P577

Q28203189-2F58C9AB-E5BD-4C79-B216-99FA96E31CFC

P5875

Q28203189-B9388C1A-9B0E-4569-9A2B-C8632A7C0CAF

P698

Q28203189-6D7C5CC1-3533-4E09-8031-F6AF76A4395E

P921

Q28203189-7F454043-717C-4B35-996A-27941FB8D352

Q28203189-A3DBC9D2-CF91-4C1C-ADF4-F65722F808C0

P3181

P356

P1433

Nature Genetics

P1476

Mutation of TDP1, encoding a t ...... ataxia with axonal neuropathy

@en

P2093

Benjamin B Roa

http://www.w3.org/2001/XMLSchema#string

Cornelius F Boerkoel

http://www.w3.org/2001/XMLSchema#string

David W Stockton

http://www.w3.org/2001/XMLSchema#string

Dawna Armstrong

http://www.w3.org/2001/XMLSchema#string

Florante A Quiocho

http://www.w3.org/2001/XMLSchema#string

Gulam Mustafa Saifi

http://www.w3.org/2001/XMLSchema#string

Hiroshi Takashima

http://www.w3.org/2001/XMLSchema#string

James R Lupski

http://www.w3.org/2001/XMLSchema#string

Joy John

http://www.w3.org/2001/XMLSchema#string

Masanori Nakagawa

http://www.w3.org/2001/XMLSchema#string

P2860

Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage

The tyrosyl-DNA phosphodiesterase Tdp1 is a member of the phospholipase D superfamily

A novel family of phospholipase D homologues that includes phospholipid synthases and putative endonucleases: identification of duplicated repeats and potential active site residues

Crystal structure of a phospholipase D family member

A novel all helix fold of the AP180 amino-terminal domain for phosphoinositide binding and clathrin assembly in synaptic vesicle endocytosis

The crystal structure of human tyrosyl-DNA phosphodiesterase, Tdp1

Yeast gene for a Tyr-DNA phosphodiesterase that repairs topoisomerase I complexes.

XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

P2888

P304

267-72

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

1227089

http://www.w3.org/2001/XMLSchema#string

P356

10.1038/NG987

http://www.w3.org/2001/XMLSchema#string

P407

P433

2

http://www.w3.org/2001/XMLSchema#string

P478

32

http://www.w3.org/2001/XMLSchema#string

P50

Mustafa A. Salih

P577

2002-10-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

11147393

http://www.w3.org/2001/XMLSchema#string

P698

12244316

http://www.w3.org/2001/XMLSchema#string

P921