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Details on Person Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine

Class:Id	FailedReaction:9608288
_displayName	Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine
_doRelease	TRUE
_timestamp	2018-12-05 14:30:34
authored	[InstanceEdit:9608305] Orlic-Milacic, Marija, 2018-05-11
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9608289] Orlic-Milacic, Marija, 2018-05-11
disease	[Disease:1500689] cancer [Disease:4791250] colorectal cancer [Disease:9605309] familial adenomatous polyposis
edited	[InstanceEdit:9612698] Orlic-Milacic, Marija, 2018-06-29
entityFunctionalStatus	[EntityFunctionalStatus:9608299] loss_of_function of MUTYH binding LOF mutants [nucleoplasm]
input	[DefinedSet:9608300] MUTYH binding LOF mutants [nucleoplasm] [Homo sapiens] [GenomeEncodedEntity:110198] (8oxoG:Ade)-dsDNA [nucleoplasm] [Homo sapiens]
isChimeric	FALSE
literatureReference	[LiteratureReference:9606250] Insight into the functional consequences of inherited variants of the hMYH adenine glycosylase associated with colorectal cancer: complementation assays with hMYH variants and pre-steady-state kinetics of the corresponding mutated E.coli enzymes [LiteratureReference:9605324] Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair [LiteratureReference:9606347] Characterization of mutant MUTYH proteins associated with familial colorectal cancer [LiteratureReference:9606564] MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay [LiteratureReference:9606605] Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis [LiteratureReference:9606249] Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH [LiteratureReference:9608327] Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH [LiteratureReference:9606534] Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma
modified	[InstanceEdit:9608294] Orlic-Milacic, Marija, 2018-05-11 [InstanceEdit:9608298] Orlic-Milacic, Marija, 2018-05-11 [InstanceEdit:9608303] Orlic-Milacic, Marija, 2018-05-11 [InstanceEdit:9608305] Orlic-Milacic, Marija, 2018-05-11 [InstanceEdit:9608335] Orlic-Milacic, Marija, 2018-05-14 [InstanceEdit:9608336] Orlic-Milacic, Marija, 2018-05-14 [InstanceEdit:9612702] Orlic-Milacic, Marija, 2018-06-29 [InstanceEdit:9631237] Orlic-Milacic, Marija, 2018-12-05 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine
normalReaction	[Reaction:110237] MUTYH mediated recognition and binding of an adenine opposite to an 8-oxoguanine [Homo sapiens]
releaseDate	2018-09-12
reviewed	[InstanceEdit:9612701] Nakabeppu, Yusaku, 2018-06-28
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9608292] R-HSA-9608288.3
summation	[Summation:9608296] MUTYH alpha-3 isoform (MUTYH-3) mutants MUTYH-3 Y165C and MU...
(hasEvent)	[Pathway:9608287] Defective MUTYH substrate binding [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778181] Update Tracker - [FailedReaction:9608288] Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine - v68:[add_removeInput] [_UpdateTracker:9835741] Update Tracker - [FailedReaction:9608288] Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine - v85:[modifyText]
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