Analysis of peripheral amyloid precursor protein in Angelman Syndrome.

scientific article published on 21 June 2016

Analysis of peripheral amyloid precursor protein in Angelman Syndrome. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.A.37811
P698PubMed publication ID27327493

P2093author name stringDebomoy K Lahiri
Tori L Schaefer
Balmiki Ray
Craig A Erickson
Logan K Wink
Ernest V Pedapati
Bayon Baindu
P2860cites workThe neurobehavioral and molecular phenotype of Angelman Syndrome.Q52662222
Characterization of Human hect Domain Family Members and Their Interaction with UbcH5 and UbcH7Q58376444
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structuresQ21266627
Angelman syndrome: a review of the clinical and genetic aspectsQ24678174
From UBE3A to Angelman syndrome: a substrate perspectiveQ26781685
Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascadeQ27620360
Increased secreted amyloid precursor protein-α (sAPPα) in severe autism: proposal of a specific, anabolic pathway and putative biomarkerQ28478681
Reversal of fragile X phenotypes by manipulation of AβPP/Aβ levels in Fmr1KO miceQ30473360
Abnormal intracellular accumulation and extracellular Aβ deposition in idiopathic and Dup15q11.2-q13 autism spectrum disordersQ34261556
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical regionQ34428426
Impact of acamprosate on plasma amyloid-β precursor protein in youth: a pilot analysis in fragile X syndrome-associated and idiopathic autism spectrum disorder suggests a pharmacodynamic protein markerQ34620558
Fragile X Syndrome and Alzheimer's Disease: Another story about APP and beta-amyloidQ34632916
Autism, Alzheimer disease, and fragile X: APP, FMRP, and mGluR5 are molecular linksQ34953710
The ubiquitin-proteasome pathway: the complexity and myriad functions of proteins deathQ36184000
Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processesQ40323242
Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individualsQ48317479
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county.Q50556444
Angelman syndrome: are the estimates too low?Q52181420
P433issue9
P407language of work or nameEnglishQ1860
P304page(s)2334-2337
P577publication date2016-06-21
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleAnalysis of peripheral amyloid precursor protein in Angelman Syndrome.
P478volume170

Reverse relations

cites work (P2860)
Q39012491Angelman syndrome: Current and emerging therapies in 2016.
Q64060256Dysfunction of the ubiquitin ligase E3A Ube3A/E6-AP contributes to synaptic pathology in Alzheimer's disease
Q47764625Eye gaze and pupillary response in Angelman syndrome
Q38826557Novel roles of amyloid-beta precursor protein metabolites in fragile X syndrome and autism.
Q90263774Peripheral Amyloid Precursor Protein Derivative Expression in Fragile X Syndrome
Q30235312Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

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