New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F24%3A00013676" target="_blank" >RIV/00023736:_____/24:00013676 - isvavai.cz</a>

Výsledek na webu

<a href="https://doi.org/10.1111/cge.14578" target="_blank" >https://doi.org/10.1111/cge.14578</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/cge.14578" target="_blank" >10.1111/cge.14578</a>

Jazyk výsledku

angličtina

Název v původním jazyce

New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2

Popis výsledku v původním jazyce

The p21-activated kinase (PAK) family of proteins regulates various processes requiring dynamic cytoskeleton organization such as cell adhesion, migration, proliferation, and apoptosis. Among the six members of the protein family, PAK2 is specifically involved in apoptosis, angiogenesis, or the development of endothelial cells. We report a novel de novo heterozygous missense PAK2 variant, p.(Thr406Met), found in a newborn with clinical manifestations of Knobloch syndrome. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Similar findings were described previously for the PAK2 p.(Glu435Lys) variant found in two siblings with proposed Knobloch syndrome type 2 (KNO2). These new variants support the association of PAK2 kinase deficiency with a second, autosomal dominant form of Knobloch syndrome: KNO2.

Název v anglickém jazyce

New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2

Popis výsledku anglicky

The p21-activated kinase (PAK) family of proteins regulates various processes requiring dynamic cytoskeleton organization such as cell adhesion, migration, proliferation, and apoptosis. Among the six members of the protein family, PAK2 is specifically involved in apoptosis, angiogenesis, or the development of endothelial cells. We report a novel de novo heterozygous missense PAK2 variant, p.(Thr406Met), found in a newborn with clinical manifestations of Knobloch syndrome. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Similar findings were described previously for the PAK2 p.(Glu435Lys) variant found in two siblings with proposed Knobloch syndrome type 2 (KNO2). These new variants support the association of PAK2 kinase deficiency with a second, autosomal dominant form of Knobloch syndrome: KNO2.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2024

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Clinical genetics

ISSN

0009-9163

e-ISSN

—

Svazek periodika

106

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

DK - Dánské království

Počet stran výsledku

7

Strana od-do

518-524

Kód UT WoS článku

001251418300001

EID výsledku v databázi Scopus

2-s2.0-85196415048