Lymphoproliferation, immunodeficiency and early-onset
inflammatory bowel disease associated with a novel mutation in
Caspase 8

J 2019

Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8

KANDEROVA, V., H. GROMBIRIKOVA, I. ZENTSOVA, Kamila RÉBLOVÁ, A. KLOCPERK et. al.

Basic information

Original name

Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8

Authors

KANDEROVA, V. (203 Czech Republic), H. GROMBIRIKOVA (203 Czech Republic), I. ZENTSOVA (203 Czech Republic), Kamila RÉBLOVÁ (203 Czech Republic, belonging to the institution), A. KLOCPERK (203 Czech Republic), M. FEJTKOVA (203 Czech Republic), M. BLOOMFIELD (203 Czech Republic), B. RAVCUKOVA (203 Czech Republic), T. KALINA (203 Czech Republic), Tomáš FREIBERGER (203 Czech Republic, guarantor, belonging to the institution) and A. SEDIVA (203 Czech Republic)

Edition

Haematologica, PAVIA, FERRATA STORTI FOUNDATION, 2019, 0390-6078

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30205 Hematology

Country of publisher

Italy

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 7.116

RIV identification code

RIV/00216224:14110/19:00108470

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.3324/haematol.2018.201673

UT WoS

000457454500009

Keywords in English

ACTIVATION

Abstract

V originále

Caspase-8 is a member of the aspartate-specific cysteine protease family that is typically synthetized as an inactive zymogen and activated upon an appropriate stimulus. Caspase-8 plays an essential role in apoptotic signal transduction from the death receptor. Recruitment of procaspase-8 into the death signaling complex leads to its dimerization, autoproteolytic cleavage and formation of a highly active heterotetramer. Caspase-8 subsequently activates caspase-3, thereby initiating the proteolytic pathway, and ultimately resulting in the apoptotic disassembly of the cell.1 Additionally, caspase-8 is also essential for various immune processes, such as lymphocyte activation, inflammasome regulation and cytokine production

Links

NV16-34414A, research and development project

Name: Určení genových oblastí náchylných ke vzniku mutací ovlivňujících sestřih mRNA

Citovat

KANDEROVA, V., H. GROMBIRIKOVA, I. ZENTSOVA, Kamila RÉBLOVÁ, A. KLOCPERK, M. FEJTKOVA, M. BLOOMFIELD, B. RAVCUKOVA, T. KALINA, Tomáš FREIBERGER and A. SEDIVA. Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8. Haematologica. PAVIA: FERRATA STORTI FOUNDATION, 2019, vol. 104, No 1, p. "E32"-"E34", 3 pp. ISSN 0390-6078. Available from: https://dx.doi.org/10.3324/haematol.2018.201673.

@article{1531637,
   author = {Kanderova, V. and Grombirikova, H. and Zentsova, I. and Réblová, Kamila and Klocperk, A. and Fejtkova, M. and Bloomfield, M. and Ravcukova, B. and Kalina, T. and Freiberger, Tomáš and Sediva, A.},
   article_location = {PAVIA},
   article_number = {1},
   doi = {http://dx.doi.org/10.3324/haematol.2018.201673},
   keywords = {ACTIVATION},
   language = {eng},
   issn = {0390-6078},
   journal = {Haematologica},
   title = {Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8},
   url = {http://www.haematologica.org/content/haematol/104/1/e32.full.pdf},
   volume = {104},
   year = {2019}
}

TY  - JOUR
ID  - 1531637
AU  - Kanderova, V. - Grombirikova, H. - Zentsova, I. - Réblová, Kamila - Klocperk, A. - Fejtkova, M. - Bloomfield, M. - Ravcukova, B. - Kalina, T. - Freiberger, Tomáš - Sediva, A.
PY  - 2019
TI  - Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8
JF  - Haematologica
VL  - 104
IS  - 1
SP  - "E32"-"E34"
EP  - "E32"-"E34"
PB  - FERRATA STORTI FOUNDATION
SN  - 03906078
KW  - ACTIVATION
UR  - http://www.haematologica.org/content/haematol/104/1/e32.full.pdf
L2  - http://www.haematologica.org/content/haematol/104/1/e32.full.pdf
N2  - Caspase-8 is a member of the aspartate-specific cysteine protease family that is typically synthetized as an inactive zymogen and activated upon an appropriate stimulus. Caspase-8 plays an essential role in apoptotic signal transduction from the death receptor. Recruitment of procaspase-8 into the death signaling complex leads to its dimerization, autoproteolytic cleavage and formation of a highly active heterotetramer. Caspase-8 subsequently activates caspase-3, thereby initiating the proteolytic pathway, and ultimately resulting in the apoptotic disassembly of the cell.1 Additionally, caspase-8 is also essential for various immune processes, such as lymphocyte activation, inflammasome regulation and cytokine production
ER  -

KANDEROVA, V., H. GROMBIRIKOVA, I. ZENTSOVA, Kamila RÉBLOVÁ, A. KLOCPERK, M. FEJTKOVA, M. BLOOMFIELD, B. RAVCUKOVA, T. KALINA, Tomáš FREIBERGER and A. SEDIVA. Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8. \textit{Haematologica}. PAVIA: FERRATA STORTI FOUNDATION, 2019, vol.~104, No~1, p.~''E32''-''E34'', 3 pp. ISSN~0390-6078. Available from: https://dx.doi.org/10.3324/haematol.2018.201673.

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