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A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15. [PDF]

Hum Cell
Cazaux Mateus F, Camões Dos Santos J, Arez M, Bekman EP, da Rocha ST.   +4 more
europepmc   +1 more source

Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position. [PDF]

Hum Mol Genet
van Esbroeck ACM, Verhagen RFM, Biagioni M, Fossati M, Distel B, Elgersma Y.   +5 more
europepmc   +1 more source

Identification of Small-Molecule Activators of the Ubiquitin Ligase E6AP/UBE3A and Angelman Syndrome-Derived E6AP/UBE3A Variants [PDF]

Cell Chemical Biology, 2020
Genetic aberrations of the UBE3A gene encoding the E3 ubiquitin ligase E6AP underlie the development of Angelman syndrome (AS). Approximately 10% of AS individuals harbor UBE3A genes with point mutations, frequently resulting in the expression of full-length E6AP variants with defective E3 activity.
Jasmin Jansen, Andreas Marx, Carissa L Sirois   +2 more
exaly   +4 more sources

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Mutation Update for UBE3A Variants in Angelman Syndrome

Human Mutation, 2014
Angelman syndrome is a neurodevelopmental disorder caused by a deficiency of the imprinted and maternally expressed UBE3A gene. Although de novo genetic and epigenetic imprinting defects of UBE3A genomic locus account for majority of Angelman diagnoses, approximately 10% of individuals affected with Angelman syndrome are a result of UBE3A loss-of ...
Bekim Sadikovic, VÍCTOR Wei Zhang, Patricia A Ward   +2 more
exaly   +3 more sources

Mutation Analysis of UBE3A in Angelman Syndrome Patients [PDF]

American Journal of Human Genetics, 1998
Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by mutations in the UBE3A gene. UBE3A encodes a ubiquitin-protein ligase and shows brain-specific imprinting.
Perrine Malzac, Anne Moncla, John M Graham   +2 more
exaly   +4 more sources

Novel Insights into the Role of UBE3A in Regulating Apoptosis and Proliferation [PDF]

Journal of Clinical Medicine, 2020
The UBE3A gene codes for a protein with two known functions, a ubiquitin E3-ligase which catalyzes ubiquitin binding to substrate proteins and a steroid hormone receptor coactivator. UBE3A is most famous for its critical role in neuronal functioning.
Julia Panov, Yonatan Feuermann, Hanoch Kaphzan   +2 more
exaly   +3 more sources

Angelman Syndrome Due to UBE3A Gene Mutation

The Indian Journal of Pediatrics, 2017
A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding.
Jyotindra Narayan, Goswami, Jitendra Kumar, Sahu, Pratibha, Singhi   +2 more
openaire   +2 more sources

UBE3A Hyperactivity as a Driver of Neurodevelopmental Disease

The FASEB Journal, 2022
UBE3A is a HECT (homologous to E6AP C‐terminus) domain E3 ubiquitin ligase that targets substrate proteins for degradation through the ubiquitin‐proteasome pathway. The UBE3A gene is of unique interest for its gene dosage‐dependent effect in the developing brain: Precise deletion or null ...
Kellan Weston, Xiaoyi Gao, Jinghan Zhao, Kwang‐Soo Kim, Joseph S. Harrison, Kuen‐Phon Wu, Jason Yi   +6 more
openaire   +1 more source