Mutations in ATXN2L Gene Linked To Alzheimer's Disease (G11273)

Target Name: ATXN2L

NCBI ID: G11273

ATXN2L

Mutations in ATXN2L Gene Linked To Alzheimer's Disease

ATXN2L, also known as Ataxin 2-like, is a protein that is expressed in the brain and is known to play a role in the development and progression of various neurological disorders, including Alzheimer's disease. The protein is a member of the axonemental transport family and is responsible for the transport of the protein Ataxin 2 to the axon terminal of neurons. Mutations in the ATXN2L gene have been linked to a range of neurological disorders, including cognitive decline and neurodegeneration.

Diseisease Background

Alzheimer's disease is a progressive neurodegenerative disorder that is characterized by the accumulation of neurofibrillary tangles and beta-amyloid plaques in the brain. The most common cause of Alzheimer's disease is the presence of one or more of the following genetic mutations: APTN2, APTN3, APTN4, APTN5, or APTN6. These mutations cause the production of a misfolded form of the protein APT-1, which accumulates in the brain and is thought to contribute to the development and progression of Alzheimer's disease.

ATXN2L Mutation

The ATXN2L gene is located on chromosome 11q22 and has been implicated in the development and progression of Alzheimer's disease. Studies have shown that mutations in the ATXN2L gene are associated with the development of early-onset Alzheimer's disease, as well as the severity of cognitive decline in patients with the disease.

Mutations in the ATXN2L gene have been shown to cause the production of a misfolded form of the protein Ataxin 2, which is known to play a role in the development and progression of Alzheimer's disease. The misfolded form of Ataxin 2 is thought to contribute to the accumulation of beta-amyloid plaques and neurofibrillary tangles in the brain, which are thought to be the hallmark of Alzheimer's disease.

The link between ATXN2L mutations and the development of Alzheimer's disease has led to the pursuit of new treatments for the disease. One approach to treating Alzheimer's disease is to target the misfolded form of Ataxin 2 that is produced by mutations in the ATXN2L gene.

Targeting Ataxin 2

Targeting Ataxin 2 is a promising strategy for the treatment of Alzheimer's disease, as the misfolded form of Ataxin 2 is thought to contribute to the development and progression of the disease. Several studies have shown that targeting Ataxin 2 with small molecules or antibodies has the potential to slow the progression of Alzheimer's disease and improve cognitive function in patients.

One approach to targeting Ataxin 2 is to use antibodies that recognize and selectively bind to the misfolded form of Ataxin 2. Studies have shown that antibodies against Ataxin 2 have the potential to slow the accumulation of beta-amyloid plaques and neurofibrillary tangles in the brain, which is thought to be the hallmark of Alzheimer's disease.

Another approach to targeting Ataxin 2 is to use small molecules that inhibit the production of misfolded Ataxin 2. Studies have shown that inhibitors of the protein kinase B (PKB), which is thought to be involved in the production of misfolded Ataxin 2, have the potential to slow the progression of Alzheimer's disease.

Conclusion

ATXN2L is a protein that is expressed in the brain and is known to play a role in the development and progression of various neurological disorders, including Alzheimer's disease. The protein is a member of the axonemental transport family and is responsible for the transport of the protein Ataxin

Protein Name: Ataxin 2 Like

Functions: Involved in the regulation of stress granule and P-body formation

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