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Schema
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Pathway
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Entries
Defective MUTYH substrate binding
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authored
[InstanceEdit:9608305] Orlic-Milacic, Marija, 2018-05-11
created
[InstanceEdit:9608289] Orlic-Milacic, Marija, 2018-05-11
dbId
9608287
disease
[Disease:1500689] cancer
[Disease:4791250] colorectal cancer
[Disease:9605309] familial adenomatous polyposis
displayName
Defective MUTYH substrate binding
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-9608288] Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine - Homo sapiens
isInDisease
true
isInferred
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
modified
[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name
Defective MUTYH substrate binding
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-9608287
summation
[Summation:9608337] For a subset of MUTYH disease variants underlying MUTYH-asso...
Referrals
(hasEvent)
[Pathway:R-HSA-9605310] Defective Base Excision Repair Associated with MUTYH
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