ASPM Antibody

1. The c.7543C>T (p.Arg2515Ter) mutation in ASPM is a novel pathogenic mutation associated with the typical MCPH phenotype in this family. PMID: 29431480
2. ASPM protein acts as a spindle pole-focusing factor that functions redundantly with CDK5RAP2. PMID: 28883092
3. Whole exome sequencing in one family identified a novel 1-bp deletion NM_018136.4: c.10013delA (p.Asp3338Valfs*2), while the other family exhibited a previously reported nonsense mutation NM_018136.4: c.9730C>T (rs199422195 (p.Arg3244*)) in the ASPM gene. The novel frameshift mutation (p.Asp3338Valfs*2) in ASPM likely truncates protein synthesis, resulting in the loss of the armadillo-type fold domain. PMID: 28674240
4. Utilizing homozygosity mapping alongside whole-exome, gene panel, or Sanger sequencing, researchers 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 the exact breakpoints were mapped. PMID: 28004384
5. In vitro organoid culture using patient-derived induced pluripotent stem cells with ASPM mutations successfully recapitulated the abnormal cortical development observed in primary microcephaly. PMID: 29058117
6. This study expands the collection of mutation data in ASPM-related microcephaly, providing insights into the types and frequencies of ASPM mutations. Additionally, the data highlight the clinical and imaging variability among patients with the same causative mutation, suggesting the involvement of additional (epigenetic) factors beyond the primary locus. PMID: 27250695
7. The ASPM-katanin complex regulates microtubule disassembly at spindle poles, and disruptions in this process can lead to microcephaly. PMID: 28436967
8. This research provides evidence that ASPM controls spindle orientation by regulating the dynamics of astral MT and that CITK plays a crucial downstream role in this activity. PMID: 27562601
9. Through co-expression analysis, ASPM was identified and validated as being associated with the progression of Hepatitis C virus cirrhosis, likely by regulating tumor-related phosphorylation. PMID: 27876500
10. The findings confirm that mutations in ASPM or WDR62 are the primary 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 affect splicing. Human Splice Finder, an in silico tool, predicted skipping of exon 16 due to this variant. Skipping of exon 16 could alter the order and number of IQ motifs in the ASPM protein, leading to a typical autosomal recessive primary microcephaly phenotype. PMID: 27920410
13. Contrary to current understanding, the cortical volume and surface area of patients with ASPM mutations are reduced in a region-specific manner, 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 that remained 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 were investigated in primary autosomal recessive microcephaly patients from ethnically diverse populations. PMID: 23611254
17. Expression of microcephalin and ASPM is dysregulated during epithelial ovarian cancer progression. PMID: 24830737
18. ASPM promotes the aggressiveness of pancreatic ductal adenocarcinoma (PDAC) by maintaining Wnt-beta-catenin signaling and stem cell characteristics of PDAC cells. PMID: 23896173
19. Autosomal recessive inheritance due to consanguinity was found to cause microcephaly accompanied by 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 mutations 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 demonstrate for the first time that ASPM is essential for efficient non-homologous end-joining in mammalian cells. PMID: 21923303
24. Researchers concluded that the common variations measured in the 4 microcephaly genes, ASPM, MCPH1, CDK5RAP2, and CENPJ, do not influence the risk of Alzheimer's 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 the ASPM gene by more than 40-fold. PMID: 20694558
28. An 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 localization. PMID: 21044324
29. Researchers identified mutations that strengthened the 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 in Drosophila, ASPM regulates brain size by controlling mitotic spindle activity in neuronal progenitor cells. PMID: 12355089
33. Microcephalin and ASPM determine the size of the human brain. PMID: 12571366
34. Researchers identified 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 correlates with differences in cerebral cortical size. PMID: 15045028
36. ASPM mutations are associated with microcephaly. PMID: 15355437
37. ASPM is localized at the spindle poles during mitosis. This finding suggests that MCPH results from 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, potentially through regulation of BRCA1. PMID: 16123590
39. Researchers expanded the clinical spectrum of ASPM mutations by demonstrating their occurrence in patients with seizures and that a history of seizures alone should not preclude a diagnosis of primary microcephaly. PMID: 16141009
40. Findings show that one genetic variant of ASPM in humans arose only about 5800 years ago and has since spread to high frequency under strong positive selection. PMID: 16151010
41. The study found no evidence that the selected alleles of MCPH1 and ASPM were linked to increases or decreases in brain volume. PMID: 16687438
42. ASPM inhibition through 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 the brain regulator gene ASPM and any general mental ability, head circumference, or 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. The research suggests that phenotypes other than brain size may have been selected for in ASPM and MCPH1 variants during the evolution of modern humans. PMID: 17566767
47. The latest ASPM variant, arising approximately 6000 years ago in the Middle East, may be connected to 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 future microcephaly formation. PMID: 18331833
50. The neuronal depletion associated with the ASPM defect primarily affects the anterior cortex. PMID: 18452193

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HGNC: 19048

OMIM: 605481

KEGG: hsa:259266

STRING: 9606.ENSP00000356379

UniGene: Hs.121028