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Cellular and Immunobiology
Published in Karl H. Pang, Nadir I. Osman, James W.F. Catto, Christopher R. Chapple, Basic Urological Sciences, 2021
Masood Moghul, Sarah McClelland, Prabhakar Rajan
Contains subnuclear structures (nucleoplasm, nucleoli, cajal bodies, and speckles).Contain a variety of proteins and nucleic acids involved in gene regulation and signalling.
Dyskeratosis Congenita
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
TCAB1 is another AR DC gene. TCAB1 is a telomerase holoenzyme protein that facilitates trafficking of telomerase to Cajal bodies, the nuclear sites of nucleoprotein complex modification and assembly. Compound heterozygous mutations in TCAB1 cause alteration of the nuclear localization of telomerase, so it cannot elongate telomeres, thereby resulting in short telomeres. A heterozygous mutation was found on the conserved telomere maintenance component 1 gene (CTC1). This implication is also associated with a pleiotropic syndrome, Coats plus [18,22].
Cell Biology
Published in C.S. Sureka, C. Armpilia, Radiation Biology for Medical Physicists, 2017
The subnuclear organelles are specialized regions or nonmembranous small bodies having proteins and RNA. It includes nucleoli or nucleolus, Cajal bodies, and speckles. The nucleolus is the major site for the synthesis of ribosomal subunits and assembles ribosomes. Cajal bodies are found in the nucleus of proliferative cells like embryonic cells and tumor cells or metabolically active cells. Speckles are enriched in pre-messenger RNA splicing factors and are located in the interchromatin regions of the nucleoplasm.
Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities
Published in Expert Opinion on Investigational Drugs, 2021
Laurent Servais, Giovanni Baranello, Mariacristina Scoto, Aurore Daron, Maryam Oskoui
SMN is ubiquitously expressed in all cells and is highly conserved across species. SMN is concentrated in the Cajal bodies, a nuclear structure essential in spliceosomal snRNP biogenesis, and is also present in the cytoplasm. The SMN protein is critical for motoneuron development and maintenance, with highest levels of expression during fetal development and early postnatal period [4]. A lower level of expression of SMN is needed throughout life [4]. Its complete absence is embryonically lethal across all species. Spinal and bulbar motoneurons are especially sensitive to the lack of SMN protein, leading to the characteristic motor features SMA. SMN functions in spliceosome assembly and ribonucleoprotein biogenesis in all cells [2] and is potentially involved in autophagy, endocytosis, mRNA trafficking and local translation, cytoskeletal dynamics, mitochondria and bioenergetic pathways, and ubiquitin-proteasome system [5], leading to additional systemic effects mainly observed in humans in the most severe cases [6,7]. There is accumulating evidence from animal models of SMA for the involvement of muscle [8], NMJs [9], liver [10], heart [11], and vascular endothelium [12] in the pathology of SMA, but clear evidence of clinical involvement of these organs in humans is limited to the most severe SMA cases.
ISG20 promotes local tumor immunity and contributes to poor survival in human glioma
Published in OncoImmunology, 2019
Mengqi Gao, Yi Lin, Xing Liu, Yiming Li, Chuanbao Zhang, Zheng Wang, Zhiliang Wang, Yulin Wang, Zongze Guo
Toward this end, we have identified that ISG20 may play a key role in mediating the IDH-related immune response in the glioma microenvironment. The ISG20 gene, located at chromosome 15q26.1, encodes a 20-kDa protein. It was first introduced in 1997 by Celine Gongora and colleagues as an IFN-induced promyelocytic leukemia nuclear body (PML-NB)-associated protein.26 PML-NB is reported to be extensively involved in oncogenesis and gene transcription,27–29 and the function differs according to its binding protein.30–33 The endogenous ISG20 protein is present both in the nucleolus and in the Cajal bodies, and participates in the maturation of small nucleolar RNAs and ribosomal RNAs, and in ribosome biogenesis,34–39 leading to the control of RNA stability.40,41 ISG20 can be induced by type I and type II IFNs,42,43 and its expression has been shown to be elevated during infection44–46 and in several types of cancers.33,47–51 However, the exact function and mechanism of action of this protein remain elusive.
VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020
Daniela Pimenta Silva, Mariana Soeiro E Sá, Fernando Silveira, Susana Pinto, Marta Gromicho, Ana Berta Sousa, Miguel Leão, Mamede De Carvalho
VRK1 encodes a ubiquitously expressed serine/threonine protein kinase, with an essential role in cell cycle regulation (6). Its role in embryonic cortical neuronal proliferation and migration was previously shown in the context of SMA-PCH (7). A recent study (8) on partial VRK1 knockout mice discovered that VRK1 may be involved in neurotrophin signaling, axon guidance, proteasome, and oxidative phosphorylation, pathways possibly involved in ALS. Other study (9) demonstrated the VRK1 role in maintaining Cajal bodies’ integrity in motor neurons.