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articles and announcements

Categories: Stem Cells

February 9, 2023

Contribution of hemizygous HERC2 deletion to Angelman syndrome pathophysiology

$200,000 2 years Individuals with a deletion of chromosome 15q11-q13 suffer from Angelman syndrome (AS), a neurogenetic developmental disorder characterized by intellectual disability, motor ataxia, absent speech, and seizures. The specific gene that is responsible for AS encodes the ubiquitin […]

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Martin Doughty headshot
June 14, 2021

Identifying UBE3A substrates targeted for proteasome degradation in human cortical neurons and their pathological importance in Angelman Syndrome

$150,000 UBE3A is a protein that labels other proteins for disposal. It is thought that accumulation of proteins that would normally be “trashed” causes the deficits in AS.  Using stem cells generated from Angelman syndrome patients or stem cells genetically […]

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Dr. Eric Morrow
January 23, 2020

Shared cellular mechanisms in Angelman syndrome and Christianson syndrome

Approximately 90% of males diagnosed with Christianson syndrome (CS) meet research criteria for a clinical diagnosis of Angelman syndrome (AS). CS is caused by loss-of-function (LoF) mutations in the X-linked, endosomal Na+/H+ exchanger 6 (NHE6) and was originally termed “X-linked […]

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December 21, 2019

Pathophysiology in a human stem cell model of Angelman syndrome

$120,000 – 2-years The discovery of genomic reprogramming of human skin cells into induced pluripotent stem cells (iPSCs) provides a novel way to model human diseases with complex genetics. By reprogramming skin cells obtained from patient samples, cell lines can […]

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Stormy Chamberlain, PhD
December 14, 2019

Testing the efficacy of antisense oligonucleotides (ASOs) against UBE3A-ATS in human neurons

$200,000 (2 years) This research study builds upon previous ASF-funded research conducted by Dr. Art Beaudet at Baylor College of Medicine and will determine whether a drug that increases UBE3A expression can restore normal function to human AS brain cells. […]

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December 14, 2019

Pathophysiological impact of diverse deregulation of tonic inhibition in Angelman syndrome

Dr. Kiyoshi Egawa from the Hokkaido University Graduate School of Medicine in Japan is conducting further research on Gaboxadol’s potential therapeutic affects in other parts of the AS brain, helping guide current and future clinical trials and move us closer […]

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The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.

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