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.

Základní údaje

Originální název

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

Autoři

KANDEROVA, V. (203 Česká republika), H. GROMBIRIKOVA (203 Česká republika), I. ZENTSOVA (203 Česká republika), Kamila RÉBLOVÁ (203 Česká republika, domácí), A. KLOCPERK (203 Česká republika), M. FEJTKOVA (203 Česká republika), M. BLOOMFIELD (203 Česká republika), B. RAVCUKOVA (203 Česká republika), T. KALINA (203 Česká republika), Tomáš FREIBERGER (203 Česká republika, garant, domácí) a A. SEDIVA (203 Česká republika)

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Itálie

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 7.116

Kód RIV

RIV/00216224:14110/19:00108470

Organizační jednotka

Lékařská fakulta

DOI

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

UT WoS

000457454500009

Klíčová slova anglicky

ACTIVATION

Štítky

14110114, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 12. 3. 2020 08:49, Mgr. Tereza Miškechová

Anotace

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

Návaznosti

NV16-34414A, projekt VaV

Název: 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 a A. SEDIVA. Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8. Haematologica. PAVIA: FERRATA STORTI FOUNDATION, 2019, roč. 104, č. 1, s. "E32"-"E34", 3 s. ISSN 0390-6078. Dostupné z: 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 a 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, roč.~104, č.~1, s.~''E32''-''E34'', 3 s. ISSN~0390-6078. Dostupné z: https://dx.doi.org/10.3324/haematol.2018.201673.

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