Tag: FMRP

October 2019
four panels show mouse neurons showing abnormalities
News

New gene linked to autism, neuron development

by  /  30 October 2019

Mutations in the gene CSDE1 lead to a constellation of developmental delays and conditions, including autism, according to a new study.

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Mitochondrion, coloured transmission electron micrograph (TEM). Mitochondria are a type of organelle found in the cytoplasm of eukaryotic cells. They oxidise sugars and fats to produce energy in a process called respiration. A mitochondrion has two membranes, a smooth outer membrane and a folded inner membrane. The folds of the inner membrane are called cristae, and it is here that the chemical reactions to produce energy take place. Magnification: x62,800 when printed at 10 centimetres wide.
News

Leaky mitochondria may play central role in fragile X syndrome

by  /  23 October 2019

Some traits of fragile X syndrome may be due to problems with mitochondria, the cell’s energy factories.

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News

Mouse study hints at why fragile X drugs fail in trials

by  /  22 October 2019

Drug after drug has failed in clinical trials for fragile X syndrome. A new study provides an explanation — a decrease in the drugs’ effectiveness over time — and points to a new strategy that could circumvent this problem.

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News

Brain ‘organoids’ point to new drug target for fragile X syndrome

by  /  18 October 2019

New findings hint at why drugs that work in mouse models of fragile X syndrome have not been effective in people.

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March 2019
News

Faulty mitochondria may fuel features of fragile X syndrome

by  /  14 March 2019

Problems with the minute ‘factories’ that yield energy for cells — the mitochondria — may contribute to learning problems and other traits of fragile X syndrome.

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January 2019
Features / Deep Dive

Revelando los secretos del síndrome X frágil en Colombia

by  /  31 January 2019

Una remota ciudad colombiana es el hogar del grupo más grande de personas con síndrome de X frágil. Los científicos están aprendiendo de ellos y tratando de ayudar.

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October 2018
Juan Pablo Quintero, Sara Quintero, Soledad Quintero, Rosario Quintero, Yeison Quintero, pose for a group portrait in Ricaurte, Valle del Cauca, on July 28, 2018.
Features / Deep Dive

Unlocking the secrets of fragile X in Colombia

by  /  10 October 2018

A remote Colombian town is home to the world’s largest cluster of people with fragile X syndrome. Scientists are learning from them — and trying to help.

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Illustration of research mice forming the letter "X".
News

Fragile X syndrome’s link to autism, explained

by  /  10 October 2018

Fragile X syndrome is a leading genetic cause of autism. People who have either condition often share certain traits, such as difficulties in social situations.

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September 2018
News

Loss of large proteins underlies fragile X syndrome, study says

by  /  13 September 2018

The protein missing in fragile X syndrome, FMRP, facilitates the production of hundreds of unusually large proteins, some of which are linked to autism.

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Artwork shows a flock of birds flying inside the head of a boy.
Opinion / Viewpoint

How a ‘pacemaker’ for the brain could ease autism traits

by  /  4 September 2018

Looking at the brain as a whole suggests that nudging flawed sets of neurons to collaborate better might alleviate autism traits.

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