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Updated: Jun 18, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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在GPM6A基因的细胞外域内的非同义单核酸多态 (nsSNP) 会损害海马神经元发育

Antonella León1, Ignacio Sallaberry2, Rocío Gutiérrez Fuster1

  • 1Instituto de Investigaciones Biotecnológicas, Universidad Nacional de San Martín (UNSAM) - Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), San Martín, Buenos Aires, Argentina; Escuela de Bio y Nanotecnologías (EByN), Universidad Nacional de San Martín, San Martín, Buenos Aires, Argentina.

Biochimica et biophysica acta. Molecular cell research
|February 12, 2025
PubMed
概括

在GPM6a蛋白中的新遗传变异.

关键词:
树状的棘 树状的棘细胞外域是细胞外域.遗传变体的遗传变体神经质突发生长的增长.蛋白质脂类蛋白质家族的蛋白质家族.

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Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
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Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...