PW03-024 - A transgenic mouse model for variant procaspase-1

نویسندگان

  • A Hermsdorf
  • F Pessler
  • H Luksch
  • S Winkler
  • R Naumann
  • J Roesler
  • A Roers
  • A Rösen-Wolff
چکیده

Introduction We have detected several genetic variants of CASP1 in patients suffering from unexplained recurrent febrile episodes. Paradoxically, in vitro and in vivo analyses of patients’ cells revealed decreased enzymatic activity of these caspase-1 variants leading to impaired cytokine production despite the proinflammatory phenotype of the patients. The pathophysiological processes associated with CASP1 variants are still under investigation.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

P-111: An Attempt to Facilitate the Production of Transgenic Mouse As A Model for Gene Therapy of Gaucher Disease

Background: Gaucher disease is an autosomal recessive inherited lysosomal storage disorder that affects many of the body's organs and tissues by defective function of the catabolic enzyme β-glucocerebrosidase. Gene therapy is one of the efficient ways for treatment of this disease. Due to the lack of appropriate animal models, in the field of gene therapy little progress has been done.Mate...

متن کامل

Genetically Engineered Mouse Embryonic Stem Cell – derived Cardiomyocytes as a Suitable Model on Drugs Toxicity In vitro

Background DOX is a powerful chemotherapeutic agent used in the treatment of solid tumors and malignant hematological diseases. However, its cardiac toxicity limits the clinical usefulness of this drug. Previous reports have shown Corticosteroids induce a cytoprotective effect on cardiomyocytes. Mouse transgenic embryonic stem cell-derived pure cardiomyocytes may be considered as a model for a...

متن کامل

PW03-027 - CASP1 variants and live cell imaging

Introduction Patients with unexplained recurrent febrile episodes and CASP1 variants suffer from systemic sterile inflammation despite reduced secretion of IL-1ß. As previously demonstrated by our group CASP1 variants lead to reduced enzymatic activity of procaspase-1 by destabilizing the tertiary structure of the caspase-1 tetramer. A possible explanation for an alternative pro-inflammatory pa...

متن کامل

PW03-025 - Procaspase-1 contributes to inflammation via NF-KB

Introduction Caspase-1 is a pro-inflammatory enzyme which gets activated by autoprocessing following the assembly of multiprotein complexes called inflammasomes. Mature caspase-1 is responsible for the activation of the proinflammatory cytokines interleukin (IL)-1b and IL-18. Luksch and colleagues reported naturally occurring CASP1 genetic variants in patients suffering from unexplained recurre...

متن کامل

Identification of Spata-19 New Variant with Expression beyond Meiotic Phase of Mouse Testis Development

Background: The study of specific genes expressed in the testis is important to understanding testis development and function. Spermatogenesis is an attractive model for the study of gene expression during germ cell differentiation. Spermatogenesis associated-19 (Spata-19) is a recently-identified important spermatogenesis-related gene specifically expressed in testis. Its protein product is in...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 11  شماره 

صفحات  -

تاریخ انتشار 2013