Dec 25, 2024 · UNC13A (Unc-13 Homolog A) is a Protein Coding gene. Diseases associated with UNC13A include Amyotrophic Lateral Sclerosis 21 and Amyotrophic Lateral Sclerosis 18. Among its related pathways are 16p11.2 proximal deletion syndrome and Synaptic vesicle pathway.

Feb 23, 2022 · Here we show that TDP-43 depletion induces robust inclusion of a cryptic exon in UNC13A, resulting in nonsense-mediated decay and loss of UNC13A protein.

This literature review explores the pivotal roles of the Uncoordinated-13 (UNC13) protein family, encompassing UNC13A, UNC13B, UNC13C, and UNC13D, in the pathogenesis of various human diseases. These proteins, which are evolutionarily conserved and ...

This present review describes the path from the initial discovery of UNC13A as a risk gene in ALS to the current therapeutic options being explored and how knowledge of its distinct phenotype needs to be taken into account in future trials.

Feb 23, 2022 · TDP-43 controls an exon splicing event in UNC13A that results in the inclusion of a cryptic exon associated with frontotemporal dementia and amyotrophic lateral sclerosis.

Recent discoveries have identified UNC13A as a potential target for therapy development in ALS, with a confirmatory trial with lithium carbonate in UNC13A cases now underway and future approaches with antisense oligonucleotides currently under consideration.

The UNC13A gene plays an essential role in the disease onset and progression of ALS. Previous studies have identified UNC13A as a susceptibility gene for ALS and FTD . Furthermore, the minor allele of UNC13A is strongly linked with shorter survival in ALS patients . These two articles establish a causal linkage between the TDP-43 loss and ...

Feb 8, 2025 · Title: UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis. Its polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.

Our findings, which demonstrate a genetic link between loss of nuclear TDP-43 function and disease, reveal the mechanism by which UNC13A variants exacerbate the effects of decreased TDP-43 function. They further provide a promising therapeutic target for TDP-43 proteinopathies.

Objective: The rs12608932 single nucleotide polymorphism in UNC13A is associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) susceptibility, and may underlie differences in treatment response. We aimed to characterize the clinical, cognitive, behavioral, and neuroimaging phenotype of UNC13A in patients with ALS.