ATL1 Antibody, Biotin conjugated

1. These results suggest that SOCE plays an important role in neuronal regeneration, and mutations in ATL1 may cause HSP, partly by undermining SOCE. PMID: 28240257
2. Variants in the ATL1 gene are a less frequent cause of hereditary spastic paraplegia among Czech patients than has been previously reported among other populations. PMID: 28736820
3. This study demonstrated that ATL1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients PMID: 26671083
4. The results suggest that tethering and lipid mixing are catalyzed concurrently by atlastin GTPase hydrolysis but that the energy requirement for lipid mixing exceeds that for tethering, and the full energy released through crossover formation is necessary for fusion. PMID: 28356327
5. that Atlastin 1 mutations may cause autosomal recessively inherited paraplegia with an underlying loss-of-function mechanism. Hence, patients with recessive forms of HSP should also be tested for the Atlastin 1 gene. PMID: 26888483
6. This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia. PMID: 27084228
7. We identified two novel mutations and two previously reported mutations in SPAST and ATL1, respectively. The family with the ATL1 c.1204T>G mutation exhibited male-lethality, female infancy-onset, and pseudo- X-linked dominant transmission PMID: 26600529
8. Novel splicing pathogenic variants were identified in ATL1 genes of Korean patients with hereditary spastic paraplegia. PMID: 26208798
9. a deficit in the membrane fusion activity of atlastin1 may be a key contributor, but is not required, for hereditary spastic paraplegia causation. PMID: 25761634
10. purified and reconstituted human ATL1 exhibited no in vitro fusion activity. When the cytosolic segment of human ATL1 was connected to the transmembrane (TM) region and C-terminal tail (CT) of Drosophila ATL PMID: 25407413
11. Data showed 3 micro-mutations and 2 exon deletions in SPAST gene and 2 micro-mutations in ATL1 gene in this cohort of Chinese patients with spastic paraplegia. PMID: 25454648
12. Our combined findings show that homozygosity for the ATL1 missense variant remains the only plausible cause of Hereditary spastic paraplegias, whereas heterozygous carriers are asymptomatic. PMID: 24473461
13. These data suggest that the C-terminal tail of Atlastin locally destabilizes bilayers to facilitate membrane fusion. PMID: 25555915
14. The atlastin-mediated fusion of ER membranes is important for LD size regulation. PMID: 23684613
15. The hydrophobic domains of protrudin likely adopt hairpin topologies, similar to those in the atlastins, as well as the ER-shaping reticulons and REEPs. Protrudin interacts with these protein families through the hydrophobic segments. PMID: 23969831
16. Three novel ATL1 mutations are identified in a cohort of patients with upper motor neuron syndrome. PMID: 23108492
17. frontal glucose hypometabolism was associated with frontal cognitive impairment indicating that widespread neuropathology associated with mutations in the SPG3A gene PMID: 23233086
18. these results further supports the role of the atlastin-1 of BMP signaling cascade in axonal maintenance and axonal degeneration, which is seen in various types of hereditary spastic paraplegia. PMID: 23079343
19. The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy. PMID: 22340599
20. The cytoplasmic domain of atlastin acts as a tether and homotypic interactions are timed by GTP binding and hydrolysis. PMID: 23334294
21. increasing the distance of atlastin complex formation from the membrane inhibits fusion, suggesting that this distance is crucial for atlastin to promote fusion PMID: 21930898
22. previously unreported autosomal dominant mutations in the atlastin gene in hereditary spastic paraplegia PMID: 20718791
23. We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia. PMID: 21321493
24. experiments also show that membrane fusion is facilitated by the C-terminal cytosolic tails following the two transmembrane segments. Finally, our results show that mutations in ATL1 causing hereditary spastic paraplegia compromise homotypic ER fusion PMID: 21368113
25. a model for nucleotide-dependent regulation of atlastin with implications for membrane fusion. This mechanism is affected in several mutants associated with HSP, providing insights into disease pathogenesis. PMID: 21220294
26. This study highlights an unexpected major role for atlastin-1 in the function of sensory neurons and identifies hereditary sensory neuropathy type I and Spastic paraplegia 3, autosomal dominant as allelic disorders. PMID: 21194679
27. In a large cohort of Spanish patients with spastic paraplegia, SPAST and ATL1 mutations were found in 15% of the cases PMID: 20932283
28. Data report a new heterozygous S398F mutation in exon 12 of the SPG3A gene causing a very early-onset spastic paraplegia in association with motor axonal neuropathy resembling diplegic cerebral palsy. PMID: 19735987
29. a new mutation in SPG3A in Italian family manifesting a complex phenotype characterized by cerebellar involvement and amyotrophic lateral sclerosis-like syndrome PMID: 19768483
30. Hereditary spastic paraplegias (HSP) proteins atlastin-1, spastin, and REEP1 interact within the tubularER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics. PMID: 20200447
31. study describes two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A PMID: 19730024
32. This study identified a novel SPG3A mutation (L157W) in the proband and her affected child. PMID: 16533974
33. This study reports a novel mutation in the SPG3A gene in a family with spastic paraplegia, further confirming that mutations in this gene cause autosomal dominant hereditary spastic paraplegia. PMID: 12112092
34. interaction with NIK/HGK PMID: 12387898
35. identification as a multimeric integral membrane GTPase that may be involved in Golgi membrane dynamics or vesicle trafficking PMID: 14506257
36. The R239C mutation was found to co-segregate with autosomal dominant hereditary spastic paraplegia (ADHSP) in one English ADHSP family confirming a widespread prevalence for this commonly occurring mutation PMID: 14607301
37. In a family with autosomal dominant spastic paraplegia, heterozygous substitution in exon 12 exchanges arginine for tryptophan at position 415 (R415W) abolishing an MSP I recognition site (CC'GG). PMID: 15184642
38. This paper report a novel mutation in the SPG3A gene in an African American family with an infantile onset of autosomal dominant hereditary spastic paraplegia. PMID: 15477516
39. Three novel mutations were found in exons 4, 9, and 12 of the atlastin gene and the common R239C mutation located in exon 7 was confirmed in a 7th family of European origin PMID: 15517445
40. All mutations of atlastin1 in young-onset autosomal dominant spastic paraplegia patients in France were found in exons 7, 8, 12, and 13. These exons should be given priority when performing molecular diagnoses for SPG3A. PMID: 15596607
41. This study report a new atlastin(R495W) mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family. PMID: 15742100
42. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. PMID: 16339213
43. Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). PMID: 16401858
44. Interaction between atlastin and spastin may define a cellular biological pathway that is important in axon maintenance, the failure of which may be pathogenetically relevant. PMID: 16815977
45. Atlastin plays a role in vesicle trafficking in the ER/Golgi interface PMID: 17321752
46. This study identified Y469C mutation in SPG3A in Japanese family with hereditary spastic paraplegia. PMID: 17380240
47. In a large SPG3A screen of 70 hereditary spastic paraplegia subjects, a novel in-frame deletion, p.del436N, was identified which affects neither the guanosine triphosphatase activity of atlastin nor interactions between atlastin and spastin. PMID: 17427918
48. Mutations in SPG3A represent an important cause of patients in the overall hereditary spastic paraplegia population. PMID: 17502470
49. identification of one novel and one known SPG3A mutation in screening 20 families and 23 sporadic cases of hereditary spastic paraplegia in Chinese Han population PMID: 17531128
50. We describe a severe case of herediatry spastic paraplegia, extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype. PMID: 18446315

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HGNC: 11231

OMIM: 182600

KEGG: hsa:51062

STRING: 9606.ENSP00000351155

UniGene: Hs.584905