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Updated: Nov 15, 2025
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Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
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The progress in C9orf72 research: ALS/FTD pathogenesis, functions and structure.
Lan Jiang1, Tizhong Zhang1, Kefeng Lu1
1Department of Urology, State Key Laboratory of Biotherapy, West China Hospital, College of Life Sciences, Sichuan University, Chengdu, China.
Small Gtpases
|March 5, 2021
Summary
Genetic mutations in C9orf72 cause a significant portion of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This review explores C9orf72
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Hexanucleotide repeat (GGGGCC) expansions in C9orf72 are a leading genetic cause of ALS and FTD.
- Understanding the pathogenic mechanisms of C9orf72 repeat expansions is crucial for developing effective therapies.
Conclusions:
- C9orf72's diverse cellular functions are critical for neuronal health.
- Understanding C9orf72 complex structures provides insights into its pathogenic mechanisms.
- Further research into C9orf72 is essential for elucidating ALS and FTD.
Keywords:
C9orf72DENN domainGAPGEFSMCR8WDR41autophagylysosomemTORmembrane traffickingneurodegenerativeMore Related Videos
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