Tag: UBE3A

August 2014
News

Treatments for Angelman syndrome face critical window

by  /  15 August 2014

Drugs designed to treat Angelman syndrome may alleviate symptoms only if given during a ‘critical period’ early in development. That’s the upshot from unpublished results presented yesterday at a conference in Boston.

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May 2014
News

Clinical research: Angelman gene variants alter symptoms

by  /  30 May 2014

The nature of the mutation that leads to Angelman syndrome — a disorder characterized by speech impairment and developmental delays — affects the disorder’s presentation, reports a study published 19 March in Research in Developmental Disabilities.

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March 2014
Opinion / Viewpoint

No longer junk: Role of long noncoding RNAs in autism risk

by ,  /  4 March 2014

Long pieces of RNA that do not code for protein have diverse and important roles in the cell and may contribute to autism risk, say Nikolaos Mellios and Mriganka Sur.

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February 2014
News

Genetics: Chinese population study identifies new autism gene

by  /  11 February 2014

Mutations in TRIM33, a protein that is part of the cell’s cleanup crew, may up the risk for autism, according to a study published 5 November in Molecular Psychiatry.

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December 2013
News

Genetics: Prader-Willi syndrome gene is new autism candidate

by  /  10 December 2013

Mutations in a single gene in 15q11.13 — a chromosomal region linked to multiple neurological disorders — may increase the risk of autism, according a study published in November in Nature Genetics.

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September 2013
News

Molecular mechanisms: Study shows Angelman drug’s actions

by  /  24 September 2013

Researchers have uncovered the mechanism by which a candidate drug for Angelman syndrome activates UBE3A, the gene that is silenced in the syndrome, according to a study published 20 August in the Proceedings of the National Academy of Sciences.

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News

Gene expression in neurons may not match number of copies

by  /  23 September 2013

Neurons derived from individuals who carry extra copies of an autism-linked chromosomal region have gene expression patterns that are unexpectedly similar to those of neurons with deletions of the region. The unpublished findings were presented Thursday at the Dup15q Alliance Scientific Meeting in Sacramento, California.

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Opinion

What does the existence of long genes tell us?

by  /  23 September 2013

Long genes, and their relationship to a class of enzymes that regulate gene expression, raise intriguing questions about the risk for neuropsychiatric disorders.
 

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News

Mouse model hints at autism gene’s role in nucleus

by  /  20 September 2013

Mice that express elevated levels of an autism-linked gene in the nucleus of neurons show social and communication problems, according to unpublished research presented Thursday at the Dup15q Alliance Scientific Meeting in Sacramento, California.

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News

Autism genes are surprisingly large, study finds

by  /  16 September 2013

Enzymes called topoisomerases are crucial for the expression of extremely long genes, including many that have been linked to autism, according to a study published 5 September in Nature. The researchers also discovered that autism genes are, on average, significantly longer than others.

15 Comments