Results 131 to 140 of about 5,768 (191)

A dual-reporter mouse for therapeutic discovery in Angelman syndrome. [PDF]

JCI Insight
Vihma H, James LM, Nourie HC, Smith AL, Liang S, Friar CA, Vulli T, Xing L, Cowley DO, Burette AC, Philpot BD.   +10 more
europepmc   +1 more source

Possible Involvement of Differential Ubiquitination as a Molecular Basis of Phenotypic Heterogeneity in Neurodevelopmental Disorders. [PDF]

Genes (Basel)
Nakagawa T, Nakagawa M.
europepmc   +1 more source

Characterization of patient-derived HPV16 E6 and E7 variant alleles. [PDF]

J Virol
Grace M, Beeravolu H, Alhamshari A, Skelin J, Kiessling S-Y, Bohm A, White EA, Munger K.   +7 more
europepmc   +1 more source

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review. [PDF]

Int J Mol Sci
Butler MG.
europepmc   +1 more source

Loss of Drosophila <i>UBE3A</i> phenocopies Piezo dysfunction and drives hyperphagic feeding in Drosophila. [PDF]

Fly (Austin)
Geier B, Neely L, Coronado E, Reiter LT.
europepmc   +1 more source

UBQLN2 is necessary for UBE3A-mediated proteasomal degradation of the domesticated retroelement PEG10. [PDF]

J Cell Sci
Roberts JE, Huynh PT, Carale LO, Whiteley AM.   +3 more
europepmc   +1 more source

The emerging role of gene therapy in autism spectrum disorder. [PDF]

Discov Ment Health
Shokoohi M, Ghamin K, Ghaderi M, Bamarinejad F, Homayouni Baker A, Danafar N, Zafarshamspour S.   +6 more
europepmc   +1 more source

Multi-targeting zinc finger nuclease vector unsilences paternal UBE3A in a mouse model of Angelman syndrome. [PDF]

Gene Ther
Bazick HO, James LM, Taylor-Blake B, Wolter JM, Zylka MJ.   +4 more
europepmc   +1 more source

Behavioral and molecular insights into anxiety in ube3a and fmr1 zebrafish models of autism spectrum disorders. [PDF]

Transl Psychiatry
Dougnon G, Matsui H.
europepmc   +1 more source

Dysfunction of the Autophagy System and MDM2-p53 Axis Leads to the Accumulation of Amyloidogenic Proteins in Angelman Syndrome Models. [PDF]

Int J Mol Sci
Martins de Almeida JF, Contestabile M, Tonazzini I, De Cesari C, Baroncelli L, Martini C, Daniele S.   +6 more
europepmc   +1 more source