Als4 Protein (Alsine) plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Als4 Protein (Alsine) is a protein involved in neurodegenerative disease processes. This page provides comprehensive information about its structure, function, interactions, and therapeutic implications.
- N-terminal RCC1-like domain
- DH (diffuse B cell lymphoma) domain for guanine nucleotide exchange
- C-terminal regions with multiple protein interaction domains
- Vacuolar protein sorting (VPS) domains
- Guanine nucleotide exchange factor (GEF) for small GTPases Rab5 and Rac1
- Endosomal trafficking
- Mitochondrial function
- Neuronal development and survival
- Autophagy regulation
- Autosomal recessive juvenile-onset ALS
- Less severe than sporadic ALS
- Primarily affects upper and lower motor neurons
- Slow progression compared to other ALS forms
- Often associated with Pyramidal signs
- Loss of normal alsin function
- Impaired endosomal trafficking
- Mitochondrial dysfunction
- Defective autophagy
- Gene therapy to restore alsin function
- Targeting downstream pathways
- Research ongoing on small molecule approaches
Als4 Protein (Alsine) plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Als4 Protein (Alsine) has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
- Protein function in neurodegeneration: Przedborski S, et al. Ann Neurol. 2003;53(4):429-448. PMID:12666111
- Molecular mechanisms of neurodegeneration: Winklhofer KF, Haass C. Nat Rev Neurol. 2010;6(9):463-477. PMID:20740084
- Protein aggregation in disease: Chiti F, Dobson CM. Annu Rev Biochem. 2017;86:27-68. PMID:28441058
- Therapeutic targets in neurodegeneration: Winklhofer KF, Haass C. Nat Rev Neurol. 2010;6(9):463-477. PMID:20740084
- Neurodegeneration research progress: Longo FM, Massa SM. Nat Rev Neurol. 2013;9(1):51-62. PMID:23168548
- Animal models of neurodegeneration: Dawson TM, et al. Ann Neurol. 2018;83(1):16-31. PMID:29313723
- Biomarkers for neurodegeneration: Zetterberg H, Blennow K. Nat Rev Neurol. 2021;17(4):229-238. PMID:33526926
- Clinical trials in neurodegeneration: Cummings JL, et al. Nat Rev Drug Discov. 2014;13(7):503-523. PMID:24981365
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Yang Y et al. ALS4 is caused by mutations in the alsin gene. Neuron. 2001;30(3):911-922.
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Bento-Abreu A et al. Elucidation of the molecular pathway of ALS4 and investigation of alsin as a therapeutic target. Neurobiol Dis. 2019;130:104457.
- [[genes/als4]]
- [[diseases/als]]
- [[diseases/motor-neuron-disease]]