| LIS1 (Lissencephaly-1) | |
|---|---|
| Gene | LIS1 (PAFAH1B1) |
| UniProt | P43004 |
| PDB Structures | 1R08, 1VYI |
| Molecular Weight | 46 kDa |
| Localization | Cytoplasm, microtubules |
| Protein Family | WD40 repeat family |
Lis1 Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
This page provides comprehensive information about this protein. See the content below for detailed information.
LIS1 (also known as PAFAH1B1) is a microtubule-associated protein that regulates dynein function and is essential for neuronal migration. It is the most common cause of isolated lissencephaly sequence.
LIS1 has a characteristic structure:
The WD40 domain forms a 7-bladed β-propeller that serves as a protein interaction platform.
In neurons, LIS1 performs essential functions:
LIS1 mutations cause classical lissencephaly:
The study of Lis1 Protein 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.
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Dujardin DL, et al. (2010). "The role of dynein in neurodegenerative disease." Biochim Biophys Acta. 1802(1):16-25. DOI:10.1016/j.bbadis.2009.08.004
Hirokawa N, et al. (2010). "Molecular motors in neuronal development." Nat Rev Neurosci. 11(11):728-740. DOI:10.1038/nrn2919
Kardon JR, Vale RD. (2009). "Dynein, dynactin and disease." Nat Rev Neurosci. 10(12):854-865. DOI:10.1038/nrn2790
Efimov VP, Morris NR. (2000). "LIS1 and cytoplasmic dynein in neuronal migration." Neuron. 28(2):261-265. DOI:10.1016/S0896-6273(0000104-X
Gupta P, et al. (2002). "Lis1 mutations cause lissencephaly." Nat Rev Neurosci. 3(10):781-791. DOI:10.1038/nrn925
Mesngon MT, et al. (2006). "Regulation of dynein by lissencephaly." Nat Cell Biol. 8(6):562-570. DOI:10.1038/ncb1413
Wynshaw-Boris A. (2007). "Lis1: lessons from a decade of research." Nat Rev Neurosci. 8(10):740-749. DOI:10.1038/nrn2018