DRPLA Genemer
- Known as:
- DRPLA Genemer
- Catalog number:
- 40-2042-10
- Product Quantity:
- 10nmoles
- Category:
- -
- Supplier:
- Gene Link
- Gene target:
- DRPLA Genemer
Related genes to: DRPLA Genemer
- Gene:
- ATN1 NIH gene
- Name:
- atrophin 1
- Previous symbol:
- D12S755E, DRPLA
- Synonyms:
- B37
- Chromosome:
- 12p13.31
- Locus Type:
- gene with protein product
- Date approved:
- 1994-04-07
- Date modifiied:
- 2016-01-15
Related products to: DRPLA Genemer
Related articles to: DRPLA Genemer
- Many invertebrates have obliquely striated muscles, in which neighboring thin and thick filaments are staggered and aligned obliquely. This type of muscle allows force production over a wide range of lengths and is beneficial for soft-bodied animals. Unlike vertebrate cross-striated muscles, most of the obliquely striated muscles lack distinct Z-lines and, instead, have dense bodies. Because the dense bodies are located in the middle of the I-bands and contain α-actinin, the dogma is that dense bodies are equivalent to the Z-lines anchoring the actin barbed ends. However, we show that the barbed ends of sarcomeric actin filaments in the nematode body wall muscle are aligned linearly without converging at the dense bodies. Colocalization of F-actin and ATN-1/α-actinin was negatively correlated. CAP-1, an α-subunit of capping protein/CapZ, was linearly aligned without concentration at the dense bodies independently of ATN-1. Depletion of the capping protein subunit, CAP-1 or CAP-2, caused embryonic or larval lethality with severe actin disorganization in muscle, indicating that barbed-end regulation by capping protein is essential for sarcomere assembly. These results contradict the current view of the sarcomere organization in muscle and suggest a new model of a linear Z-line-like arrangement of actin barbed ends. - Source: PubMed
Publication date: 2026/03/04
Ono ShoichiroNickoloff-Bybel EmilyKurimaru KennosukeOno Kanako - - Source: PubMed
Publication date: 2026/02/14
Özkale YaseminÖzkale MuratBişgin AtılErol İlknur - - Source: PubMed
Publication date: 2026/02/09
Joon PreetiDas AkhilaDas Bipul KumarKaushik Jaya Shankar - Dentatorubral-pallidoluysian atrophy (DRPLA) is a fatal neurodegenerative disease arising from a CAG repeat expansion in the atrophin-1 () gene. Because DRPLA, like many repeat expansion disorders (REDs), arises predominantly from toxic gain-of-function mechanisms, we hypothesized that knockdown would have therapeutic potential. To test this, we established the first fully humanized mouse model of a RED, in which one allele of mouse is completely replaced by human , including 112 pure CAG repeats. This novel approach to exploring RED biology provides significant advantages, notably the ability to test sequence-specific therapeutics targeting human sequences, even in introns and untranslated regions of pre-mRNA. We found that our model-the mouse-recapitulates key features of human DRPLA, including behavioral alterations, reduced brain size, and aggregate accumulation. We treated mice with antisense oligonucleotides (ASOs) targeting mouse (to probe for loss of function concerns), human , or a combination. Treatment with human, but not mouse, -targeting ASOs provides remarkable protection from a range of disease-related behavioral phenotypes and marked rescue of transcriptional dysregulation in the cerebellum. These results have helped motivate an ongoing human clinical study of ASOs targeting for DRPLA. - Source: PubMed
Publication date: 2025/12/31
Smith Velvet LGidi Bereket ZBragg Robert MCantle Jeffrey PBen-Varon AlizaNoble BrianaPrades SilviaCompton AndreaGreenfield JulieKorecka Joanna AGemos AnyaYu TimothyKhurana VikramKordasiewicz Holly BZhao Hien TBarker-Haliski MelissaChild Daniel DCarroll Jeffrey B - Comprehensive identification of somatic mutations (SMs) is essential for understanding the molecular landscape of small cell lung cancer (SCLC). While DNA-sequencing remains a prevalent method for SMs detection, RNA-sequencing (RNA-seq) offers a powerful complementary strategy by focusing on mutations in actively transcribed regions. Despite its potential, the utility of RNA-seq for somatic variant discovery in SCLC remains underexplored. Here, we present a robust RNA-seq analysis pipeline that integrates a two-pass HISAT2 alignment with somatic variant calling using MuTect2 from the Genome Analysis Toolkit (GATK). Variant annotation using COSMIC and dbSNP databases revealed a predominance of G > A and C > T transitions, consistent with mutational signature of tobacco exposure and oxidative stress. Our analysis identified six key oncogenes (COL4A1, FN1, AKT1, TRAF4, MYC, PTK2) implicated in SCLC signaling pathways, alongside 259 previously unreported high-impact mutations. Leveraging the complete T2T-CHM13 reference genome improved variant resolution, capturing more SNPs, MNPs, and Indels compared to GRCh38. Integration with CancerVar tool prioritized putative driver genes, including UBC, TSC1, ADGRL1, and ATN1. Notably, these driver mutations showed a negative association with the SCLC-inflamed subtype, which is characterized by increased immune infiltration and prolonged survival. Our findings highlight the untapped potential of RNA-seq for somatic mutation profiling in SCLC and unveil novel molecular targets with implications for patient stratification, immunotherapy, and precision treatment strategies. - Source: PubMed
Publication date: 2025/12/30
Kashyap PragyaAhirwar Dinesh KumarYadav Pankaj