ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality
E Sindram, A Caballero-Oteyza… - Disease models & …, 2023 - journals.biologists.com
The Arp2/3 complex drives the formation of branched actin networks that are essential for
many cellular processes. In humans, the ARPC5 subunit of the Arp2/3 complex is encoded …
many cellular processes. In humans, the ARPC5 subunit of the Arp2/3 complex is encoded …
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
CJ Nunes-Santos, HS Kuehn, B Boast… - Nature …, 2023 - nature.com
We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3
actin nucleator complex, in two unrelated patients presenting with recurrent and severe …
actin nucleator complex, in two unrelated patients presenting with recurrent and severe …
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
DL Cintron, AM Muir, A Scott, M McDonald… - Human Genetics and …, 2022 - cell.com
We report seven affected individuals from six families with a recurrent, de novo variant in the
ARPC4 gene (c. 472C> T [p. Arg158Cys (GenBank: NM_005718. 4)]). Core features in …
ARPC4 gene (c. 472C> T [p. Arg158Cys (GenBank: NM_005718. 4)]). Core features in …
Disruption of thrombocyte and T lymphocyte development by a mutation in ARPC1B
R Somech, A Lev, YN Lee, AJ Simon… - The Journal of …, 2017 - journals.aai.org
Regulation of the actin cytoskeleton is crucial for normal development and function of the
immune system, as evidenced by the severe immune abnormalities exhibited by patients …
immune system, as evidenced by the severe immune abnormalities exhibited by patients …
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease
Abstract Human actin-related protein 2/3 complex (Arp2/3), required for actin filament
branching, has two ARPC1 component isoforms, with ARPC1B prominently expressed in …
branching, has two ARPC1 component isoforms, with ARPC1B prominently expressed in …
Cryo-EM of human Arp2/3 complexes provides structural insights into actin nucleation modulation by ARPC5 isoforms
The Arp2/3 complex regulates many cellular processes by stimulating formation of branched
actin filament networks. Because three of its seven subunits exist as two different isoforms …
actin filament networks. Because three of its seven subunits exist as two different isoforms …
ARPC5 isoforms and their regulation by calcium-calmodulin-N-WASP drive distinct Arp2/3-dependent actin remodeling events in CD4 T cells
L Sadhu, N Tsopoulidis, M Hasanuzzaman, V Laketa… - Elife, 2023 - elifesciences.org
CD4 T cell activation induces nuclear and cytoplasmic actin polymerization via the Arp2/3
complex to activate cytokine expression and strengthen T cell receptor (TCR) signaling …
complex to activate cytokine expression and strengthen T cell receptor (TCR) signaling …
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
S Volpi, MP Cicalese, P Tuijnenburg… - Journal of Allergy and …, 2019 - jacionline.org
To the Editor: Recently, a novel syndrome of combined immunodeficiency, allergy, and
''auto''inflammation caused by mutations in the ARPC1B gene has been reported. 1-4 …
''auto''inflammation caused by mutations in the ARPC1B gene has been reported. 1-4 …
Case report: a novel synonymous ARPC1B gene mutation causes a syndrome of combined immunodeficiency, asthma, and allergy with significant intrafamilial clinical …
I Papadatou, N Marinakis, E Botsa… - Frontiers in …, 2021 - frontiersin.org
Recently, a novel syndrome of combined immune deficiency, infections, allergy, and
inflammation has been attributed to mutations in the gene encoding actin-related protein 2/3 …
inflammation has been attributed to mutations in the gene encoding actin-related protein 2/3 …
Flow cytometric determination of actin polymerization in peripheral blood leukocytes effectively discriminate patients with homozygous mutation in ARPC1B from …
AN Kopitar, G Markelj, M Oražem, Š Blazina… - Frontiers in …, 2019 - frontiersin.org
Actin nucleators initiate formation of actin filaments. Among them, the Arp2/3 complex has
the ability to form branched actin networks. This complex is regulated by members of the …
the ability to form branched actin networks. This complex is regulated by members of the …