Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease
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چکیده
منابع مشابه
ITCH E3 ligase in ATM network
Ataxia Telangiectasia Mutated (ATM) kinase is a central regulator of the DNA damage response and its loss of function leads to the development of Ataxia Telangiectasia, a rare genetic disorder characterized by several features among which cerebellar neuron degeneration which causes ataxia, telangiectasia, immune system abnormalities, higher predisposition to lymphoma and leukaemia development a...
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UNLABELLED Ebola virus (EBOV) and Marburg virus (MARV) belong to the Filoviridae family and can cause outbreaks of severe hemorrhagic fever, with high mortality rates in humans. The EBOV VP40 (eVP40) and MARV VP40 (mVP40) matrix proteins play a central role in virion assembly and egress, such that independent expression of VP40 leads to the production and egress of virus-like particles (VLPs) t...
متن کاملRecognition and ubiquitination of Notch by Itch, a hect-type E3 ubiquitin ligase.
Genetic studies identified Itch, which is a homologous to the E6-associated protein carboxyl terminus (Hect) domain-containing E3 ubiquitin-protein ligase that is disrupted in non-agouti lethal mice or Itchy mice. Itch-deficiency results in abnormal immune responses and constant itching in the skin. Here, Itch was shown to associate with Notch, a protein involved in cell fate decision in many m...
متن کاملNegative correlation of ITCH E3 ubiquitin ligase and miRNA-106b dictates metastatic progression in pancreatic cancer
Pancreatic cancer is one of the major malignancies and cause for mortality across the world, with recurrence and metastatic progression remaining the single largest cause of pancreatic cancer mortality. Hence it is imperative to develop novel biomarkers of pancreatic cancer prognosis. The E3 ubiquitin ligase ITCH has been previously reported to inhibit the tumor suppressive Hippo signaling by s...
متن کاملThe E3 ubiquitin ligase Itch controls the protein stability of p63.
p63, a member of the p53 family of transcription factors, plays an important role in epithelial development, regulating both cell cycle and apoptosis. Even though p63 activity is regulated mainly at the posttranslational level, the control of p63 protein stability is far from being fully understood. Here, we show that the Hect (homologous to the E6-associated protein C terminus)-containing Nedd...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2010
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.01.028