ASPM Antibody

1. The c.7543C>T (p.Arg2515Ter) mutation in ASPM is a novel pathogenic mutation for the typical MCPH phenotype in this family PMID: 29431480
2. ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2. PMID: 28883092
3. Whole exome sequencing in one family revealed a novel 1-bp deletion NM_018136.4: c.10013delA (p.Asp3338Valfs*2), while the other family showed a previously reported nonsense mutation NM_018136.4: c.9730C>T (rs199422195 (p.Arg3244*)) in ASPM gene. The novel frame-shift mutation (p.Asp3338Valfs*2) in ASPM presumably truncates the protein synthesis that results in loss of armadillo-type fold domain. PMID: 28674240
4. Using homozygosity mapping complemented with whole-exome, gene panel or Sanger sequencing, we identified 12 novel mutations in 3 known MCPH-associated genes - 9 in ASPM, 2 in MCPH1 and 1 in CDK5RAP2. The 2 MCPH1 mutations were homozygous microdeletions of 164,250 and 577,594 bp, respectively, for which we were able to map the exact breakpoints PMID: 28004384
5. Abnormal cortical development in primary microcephaly was recapitulated with organoid culture in vitro using patient's induced pluripotent stem cells with ASPM mutation. PMID: 29058117
6. Our study enlarges the collection of mutation data in ASPM-related microcephaly and offers new insight into the types and frequencies of the ASPM mutations. Further, our data highlight the clinical and imaging variability in patients with the same causative mutation, suggesting the involvement of additional (epigenetic) factors besides the primary locus. PMID: 27250695
7. ASPM-katanin complex controls microtubule disassembly at spindle poles and that misregulation of this process can lead to microcephaly. PMID: 28436967
8. in this study we have provided evidence that ASPM controls spindle orientation by regulating the dynamics of astral MT and that CITK is a critical downstream partner of ASPM for this activity. PMID: 27562601
9. Through co-expression analysis, ASPM was identified and validated in association with the progression of Hepatitis C virus cirrhosis probably by regulating tumor-related phosphorylation. PMID: 27876500
10. The results confirm that mutations in ASPM or WDR62 are the major cause of autosomal recessive primary microcephaly in the Pakistani population. PMID: 27784895
11. In the Title. PMID: 27571986
12. A novel homozygous splice-site variant in the ASPM gene was identified. The variant is predicted to have an effect on splicing. Human Splice Finder, an in silico tool, predicted skipping of exon 16 due to this variant. Skipping of exon 16 may change the order and number of IQ motifs in the ASPM protein leading to typical autosomal recessive primary microcephaly phenotype. PMID: 27920410
13. contrary to current opinion, the cortical volume and surface area of patients with ASPM mutations is reduced depending on a regionally specific fashion and their cognitive profile reflects this heterogeneity. PMID: 26691732
14. Suberoylanilide hydroxamic acid enhanced the expression of malignant genes such as ASPM in lung cancer cells remaining after treatment, creating a more drug-resistant state. PMID: 25796627
15. Gene-level tests showed that DRD2 was associated with vocabulary, ASPM with vocabulary and reading decoding, and AVPR1A with all three endophenotypes. PMID: 24849541
16. ASPM mutations in primary autosomal recessive microcephaly patients in ethnically diverse patients PMID: 23611254
17. microcephalin and ASPM expression are deregulated in epithelial ovarian cancer progression PMID: 24830737
18. ASPM promotes aggressiveness of pancreatic ductal adenocarcinoma (PDAC) by maintaining Wnt-beta-catenin signaling and stem cell features of PDAC cells. PMID: 23896173
19. Autosomal recessive inheritance due to consanguinity caused microcephaly with attention deficit disorder and mental retardation. PMID: 23887221
20. Identification of a novel ASPM mutation in a family with primary microcephaly. PMID: 22989186
21. Data indicate frameshift and stop mutation leading to truncations (c.3796G > T, p.E1266X and c.7815_7816del, p.E2605fs) in the ASPM gene unexpectedly found on chromosome 1 in apparent X-linked microcephalic intellectual deficit patients. PMID: 22823409
22. the association between the recently derived allele of ASPM is likely to be specific and is tied to higher level brain functions in the temporal cortex related to human communication. PMID: 22529908
23. Results show for the first time that ASPM is required for efficient non-homologous end-joining in mammalian cells. PMID: 21923303
24. We conclude that the common variations we measured in the 4 microcephaly genes, ASPM, MCPH1, CDK5RAP2, and CENPJ, do not affect the risk of Alzheimer disease PMID: 21297427
25. Study links Angelman syndrome protein UBE3A to ASPM, centrosome and mitosis. PMID: 21633703
26. ASPM interacts with Angelman syndrome protein UBE3A PMID: 21633703
27. All medulloblastoma samples overexpressed ASPM gene more than 40-fold PMID: 20694558
28. ASPM splice site mutation results in the expression of a novel variant protein lacking a tripeptide motif, a minimal alteration that correlates with a dramatic decrease in ASPM spindle pole localisation. PMID: 21044324
29. identified mutations that extended the body of evidence implicating the ASPM gene in the pathogenesis of human hereditary primary microcephaly. PMID: 19808985
30. Observational study of gene-disease association. (HuGE Navigator) PMID: 20508983
31. Observational study of gene-disease association. (HuGE Navigator) PMID: 20080800
32. Similar to aspm of Drosophila. Regulates brain size by regulating mitotic spindle activity in neuronal progenitor cells. PMID: 12355089
33. microcephalin and ASPM determine the size of the human brain PMID: 12571366
34. identification of all 19 mutations in a cohort of 23 consanguineous families with autosomal recessive primary microcephaly PMID: 14574646
35. evolutionary selection of specific segments of the ASPM sequence strongly relates to differences in cerebral cortical size PMID: 15045028
36. ASPM mutations is associated with microcephaly PMID: 15355437
37. ASPM is localized in the spindle poles during mitosis. This finding suggests that MCPH is the consequence of an impairment in mitotic spindle regulation in cortical progenitors due to mutations in ASPM. PMID: 15972725
38. ASPM may be involved in mitotic spindle function, possibly, through regulation of BRCA1 PMID: 16123590
39. We thus expand the clinical spectrum of ASPM mutations by showing that they can occur in patients with seizures and that the history of seizures alone should not necessarily preclude the diagnosis of primary microcephaly. PMID: 16141009
40. findings show that one genetic variant of ASPM in humans arose merely about 5800 years ago and has since swept to high frequency under strong positive selection PMID: 16151010
41. The study found no evidence that the selected alleles of MCPH1 and ASPM were associated with increases or decreases in brain volume. PMID: 16687438
42. ASPM inhibition by siRNA-mediated knockdown inhibits tumor cell proliferation and neural stem cell proliferation, supporting ASPM as a potential molecular target in glioblastoma PMID: 17090670
43. Studies using 2393 subjects do not support a detectable association between the recent adaptive evolution of either ASPM or Microcephalin and changes in IQ. PMID: 17220170
44. no relationship was found between polymorphisms of brain regulator gene ASPM and any general mental ability, head circumference and social intelligence PMID: 17251122
45. A GFP-tagged fragment of the N-terminus of ASPM localizes to centrosomes and spindle poles, while a GFP-tagged fragment of the C-terminus localizes to midbodies. PMID: 17534152
46. that phenotypes other than brain size may have been selected for in ASPM and MCPH1 variants during evolution of modern humans. PMID: 17566767
47. The latest ASPM variant arising about 6000 years ago somewhere in the Middle East may be connected with alphabetical writing. PMID: 17604569
48. four novel sequence variants (Y1712X, I1717X, Y3353X, R3244X) were detected and all were predicted to be protein truncating. PMID: 17849285
49. This is the first report suggesting that the suppression of Aspm by IR could be the initial molecular target leading to the future microcephaly formation. PMID: 18331833
50. the neuronal depletion associated with the ASPM defect predominantly affects the anterior cortex PMID: 18452193

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HGNC: 19048

OMIM: 605481

KEGG: hsa:259266

STRING: 9606.ENSP00000356379

UniGene: Hs.121028