All posts by Alzforum, Gwyneth Dickey Zakaib

Grow that Axon: C9ORF72 Function Revealed?

While mutated C9ORF72 leads to some forms of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD), scientists still wonder what the healthy protein does. In the October 10 Nature Neuroscience online, scientists led by Michael Sendtner, University Hospital of Wuerzburg, Germany, suggest that the C9ORF72 protein modulates actin dynamics.

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Gene Links Childhood Neurodegeneration to Mitophagy

Neurodegenerative disease almost always strikes in adults, but some extremely rare forms can crop up in adolescents or even children. Genetic clues to abnormal pathways that underlie these early onset disorders might help scientists better understand late-onset diseases such as Alzheimer’s. A study in the September 1 American Journal of Human Genetics reports that rare […]

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Tackling Mutant C9ORF72 Transcripts at the Source

Some patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) carry a long repeat expansion in the C9ORF72 gene. Those stretches of DNA can be transcribed in both sense and antisense directions, leading to the build-up of RNA foci and translated dipeptide repeat proteins. What if there was a way to nip transcription in […]

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Genetic Studies Uncover Four New ALS Genes

Two papers in the July 25 Nature Genetics yield new insight into genetic factors underlying amyotrophic lateral sclerosis (ALS). In one, scientists led by Ammar Al-Chalabi, King’s College London, and Leonard van den Berg and Jan Veldink of the University Medical Center Utrecht, the Netherlands, describe how they combined forces with other ALS researchers to […]

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