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ASPM is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Additionally we are shipping ASPM Antibodies (7) and many more products for this protein.
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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 (show PKP1 ELISA Kits)-type fold domain.
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 (show MCPH1 ELISA Kits) and 1 in CDK5RAP2 (show CDK5RAP2 ELISA Kits). The 2 MCPH1 (show MCPH1 ELISA Kits) mutations were homozygous microdeletions of 164,250 and 577,594 bp, respectively, for which we were able to map the exact breakpoints
Abnormal cortical development in primary microcephaly was recapitulated with organoid culture in vitro using patient's induced pluripotent stem cells with ASPM mutation.
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.
ASPM-katanin complex controls microtubule disassembly at spindle poles and that misregulation of this process can lead to microcephaly.
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.
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.
The results confirm that mutations in ASPM or WDR62 are the major cause of autosomal recessive primary microcephaly in the Pakistani population.
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.
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.
Aspm and Wdr62 interact genetically to control brain size, with mice lacking Wdr62, Aspm, or both showing gene dose-related centriole duplication defects that parallel the severity of the microcephaly and increased ectopic basal progenitors, suggesting premature delamination from the ventricular zone.
Interaction between ASPM and the Cdk2 (show CDK2 ELISA Kits)/Cyclin E (show CCNE1 ELISA Kits) complex regulated the Cyclin (show PCNA ELISA Kits) activity by modulating its ubiquitination and localization into the nucleus.
Aspm, a gene that is mutated in familial microcephaly, regulates postnatal neurogenesis in the cerebellum and supports the growth of medulloblastoma, the most common malignant pediatric brain tumor.
Aspm is essential to the proliferation and differentiation of neural stem/progenitor cells. The Aspm gene loss model provided a novel pathogenetic insight into acquired microcephaly, which can be caused by in utero exposure teratogens.
ASPM plays a critical role in meiotic spindle assembly and meiotic progression in mouse oocytes.
AspM is expressed by proliferating cells of the adult mouse SVZ that can generate neuroblasts fated to become olfactory bulb neurons
knockdown of Aspm results in decreased Wnt (show WNT2 ELISA Kits)-mediated transcription
truncated Aspm proteins cause a massive loss of germ cells, resulting in a severe reduction in testis and ovary size accompanied by reduced fertility
tissue distribution of Calmbp1 in fetal and adult mice
This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.
asp (abnormal spindle) homolog, microcephaly associated
, calmodulin binding protein 1
, asp (abnormal spindle)-like, microcephaly associated
, asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
, Abnormal spindle-like microcephaly-associated protein homolog
, abnormal spindle-like microcephaly-associated protein
, abnormal spindle-like microcephaly-associated protein homolog
, abnormal spindle-like microcephaly protein
, calmodulin-binding protein 1
, calmodulin-binding protein Sha1
, spindle and hydroxyurea checkpoint abnormal protein