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Tag: FMRP

September 2021
Many people in different areas on a target.
News

Finding a path forward for fragile X drugs

by  /  23 September 2021

The stubborn lack of treatments for fragile X syndrome — a leading cause of inherited intellectual disability and autism — is spurring researchers to revise clinical trial techniques and revisit old drug candidates.

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Steve Warren
Opinion / Viewpoint

Remembering Steve Warren (1953-2021): A giant in the field of genetics

by , , ,  /  6 September 2021

Steve Warren co-discovered the genetic mechanism that underpins fragile X syndrome and was a generous, inspiring mentor to many.

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August 2021
News

Molecular overlap links tuberous sclerosis, fragile X

by  /  16 August 2021

Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.

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May 2021
Dr. Elizabeth Berry-Kravis stretching during a run.
News / Profiles

Elizabeth Berry-Kravis: Running a marathon for fragile X syndrome

by  /  26 May 2021

Elizabeth Berry-Kravis has spent decades uncovering molecular clues to fragile X syndrome and crafting trials of treatments. Her efforts are paying off.

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March 2021
Hands of researcher in two colors, one hand with Fragile X and the other with COIVD shapes connected by multicolored dots.
Opinion / Q&A

Fragile X researcher takes on COVID-19

by  /  2 March 2021

Cara Westmark has spent the past year building the case that a drug designed for fragile X syndrome might help coronavirus patients, too.

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December 2020
Micrograph of nerve cells being targeted by CRISPR enzyme to activate the silenced gene in Angelman syndrome
Features / Special Reports / Hindsight is 2020: The year in review

Hot topics in autism research, 2020

23 December 2020

The Spectrum team highlights five topics that distinguished autism research in 2020: diversity in data, gene therapies, subtyping, social circuitry and the ‘autism gene’ debate.

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October 2020
Adolescent has cheek swabbed
News

Autism, intellectual disability linked to levels of fragile X protein

by  /  26 October 2020

People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.

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September 2020
Micrograph of a mitochondria.
News

Fragile X syndrome traits may stem from leaky mitochondria

by  /  11 September 2020

Plugging a leaky mitochondrial membrane may help fragile X neurons to mature and function more efficiently.

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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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