Reactome | Defective MUTYH substrate processing

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Defective MUTYH substrate processing Show undefined attributes

authored	[InstanceEdit:9608289] Orlic-Milacic, Marija, 2018-05-11
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9608289] Orlic-Milacic, Marija, 2018-05-11
crossReference	[DatabaseIdentifier:12020963] Mondo:0021055
dbId	9608290
disease	[Disease:1500689] cancer [Disease:4791250] colorectal cancer [Disease:9605309] familial adenomatous polyposis
displayName	Defective MUTYH substrate processing
edited	[InstanceEdit:9612698] Orlic-Milacic, Marija, 2018-06-29
eventOf	[Pathway:R-HSA-9605310] Defective Base Excision Repair Associated with MUTYH - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-9605313] Defective MUTYH mutants do not cleave adenine mispaired with 8-oxoguanine - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2023-06-07
literatureReference	[LiteratureReference:9606276] A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis [LiteratureReference:9606347] Characterization of mutant MUTYH proteins associated with familial colorectal cancer [LiteratureReference:9606292] Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis [LiteratureReference:9606269] Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis [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:9606605] Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis [LiteratureReference:9606534] Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma [LiteratureReference:9606648] Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer [LiteratureReference:9606238] Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations [LiteratureReference:9606551] Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer [LiteratureReference:9606564] MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay [LiteratureReference:9605324] Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair [LiteratureReference:9606741] Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells [LiteratureReference:9606651] Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis [LiteratureReference:9606256] Identification of critical residues required for the mutation avoidance function of human MutY (hMYH) and implications in colorectal cancer [LiteratureReference:9606302] Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective MUTYH substrate processing
normalPathway	[Pathway:R-HSA-73929] Base-Excision Repair, AP Site Formation
releaseDate	2018-09-12
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9612701] Nakabeppu, Yusaku, 2018-06-28
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9608290
summation	[Summation:9608340] MUTYH disease variants underlying the MUTYH-associated polyp...
updateTrackers	[UpdateTracker:9835791] Update Tracker - [Pathway:9608290] Defective MUTYH substrate processing - v85:[modifyText, updateContainedRLE]

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(updatedInstance)	[UpdateTracker:9835791] Update Tracker - [Pathway:9608290] Defective MUTYH substrate processing - v85:[modifyText, updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-9605310] Defective Base Excision Repair Associated with MUTYH

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