2025年3月28日 · ATL1 (Atlastin GTPase 1) is a Protein Coding gene. Diseases associated with ATL1 include Spastic Paraplegia 3, Autosomal Dominant and Neuropathy, Hereditary Sensory, Type Id. Among its related pathways is Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and GTPase activity.

Here, we report a novel disease-causing, in-frame insertion in the ATL1 gene, leading to inclusion of an additional asparagine residue at position 417 (N417ins). This mutation correlates with complex, early-onset spastic quadriplegia affecting all four extremities, generalized dystonia, and a thinning of the corpus callosum.

The ATL1 gene encodes atlastin-1, a dynamin-related GTPase, which plays a role in formation of the tubular endoplasmic reticulum (ER) network and in axon elongation in neurons (Zhu et al., 2006; Orso et al., 2009).

2012年7月7日 · We show that Atl1 is vital for initiating the processing of damage produced by simple alkylating agents principally via the GGR pathway. In contrast, Atl1 exacerbates the toxicity of lesions generated by bulky alkylating agents in NER-defective cells.

A targeted panel sequencing of HSP genes was done and revealed a novel homozygous ATL1 frameshift variant (NM_015915.4:c.1207del; p.Arg403Glufs*3, exon 12/14). This variant most likely activates the nonsense-mediated mRNA decay surveillance pathway, thus resulting in the absence of the atlastin protein.

2016年3月17日 · Our study suggests that the VCP-P47 complex acts with an ER regulator, ATL1, to regulate ER morphology and protein synthesis, which are critical for dendritic spinogenesis. In our previous...

编码的蛋白质可以形成同源四聚体，并已被证明与 spastin 和丝裂原活化蛋白激酶 kinase kinase kinase 4 相互作用。 该蛋白质可能参与轴突维持，事实证明该基因的缺陷是痉挛的原因 3 型截瘫。 已发现该基因编码两种不同亚型的三种转录变体。 [RefSeq 提供，2008 年 7 月] The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein.

2010年10月10日 · We found that knockdown of the gene for atlastin (atl1) caused a severe decrease in larval mobility that was preceded by abnormal architecture of spinal motor axons and was associated with a...

2025年2月12日 · Three novel ATL1 mutations are identified in a cohort of patients with upper motor neuron syndrome. frontal glucose hypometabolism was associated with frontal cognitive impairment indicating that widespread neuropathology associated with …

2013年11月1日 · Mutations in atlastin-1 (ATL1) have been identified in patients with HSP SPG3A. However, the function of ATL1 in the mammalian brain remains unclear. Here, we found that expression of ATL1 mRNA was restricted in the deep layer of mouse cerebral cortex during the early development.