Alexandre Slater

Comprehensive biophysical and structural profiling of alpha-actinin-2 variants reveals mechanistic diversity in hypertrophic cardiomyopathy

Maya Noureddine, Halina Mikolajek, Nathan Cowieson, Nikos Pinotsis et autres

Hypertrophic cardiomyopathy (HCM) is a genetic disease associated with sudden cardiac death. Variants in alpha-actinin-2 (ACTN2), a Z-disc protein that anchors actin thin filaments have been implicated in HCM, yet their structural consequences remain poorly defined. Here, we characterise seventeen HCM-associated ACTN2 …

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Structural, biophysical and cellular assessment of filamin C M82K: A test case for VUS interpretation in cardiomyopathy

Maya Noureddine, Bethany A I Jones, Oseloka C.M. Oliobi, Rylan Beckingham et autres

Filamin C (FLNC) is a key Z-disc protein that anchors actin filaments to membrane-bound complexes and is essential for sarcomeric stability and mechanotransduction. Genetic variants in FLNC are implicated in cardiomyopathy, a hereditary disease affecting heart muscle function. However, the structural and …

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Nanobodies to GPVI as alternative reagents for platelet spreading

Alexandre Slater, Hsin-Yun Pan, Tz-Han Ho, Eleyna M. Martin et autres

Platelet spreading assays are widely used to assess platelet adhesion, cytoskeletal remodeling and receptor‑specific signaling, but current GPVI ligands such as Collagen Related Peptide (CRP‑XL) suffer from non‑defined structure, batch variability, and high cost. Nanobodies targeting GPVI offer an attractive alternative due …

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Nanobodies to GPVI as alternative reagents for platelet spreading

Alexandre Slater, Hsin-Yun Pan, Tz-Han Ho, Eleyna M. Martin et autres

Platelet spreading assays are widely used to assess platelet adhesion, cytoskeletal remodeling and receptor‑specific signaling, but current GPVI ligands such as Collagen Related Peptide (CRP‑XL) suffer from non‑defined structure, batch variability, and high cost. Nanobodies targeting GPVI offer an attractive alternative due …

Nanobodies to GPVI as alternative reagents for platelet spreading

Alexandre Slater, Hsin-Yun Pan, Tz-Han Ho, Eleyna M. Martin et autres

Platelet spreading assays are widely used to assess platelet adhesion, cytoskeletal remodeling and receptor‑specific signaling, but current GPVI ligands such as Collagen Related Peptide (CRP‑XL) suffer from non‑defined structure, batch variability, and high cost. Nanobodies targeting GPVI offer an attractive alternative due …

Nanobodies to GPVI as alternative reagents for platelet spreading

Alexandre Slater, Hsin-Yun Pan, Tzu-Han Ho, Eleyna M. Martin et autres

Platelet spreading assays are widely used to assess platelet adhesion, cytoskeletal remodeling and receptor‑specific signaling, but current GPVI ligands such as Collagen Related Peptide (CRP‑XL) suffer from non‑defined structure, batch variability, and high cost. Nanobodies targeting GPVI offer an attractive alternative due …

Receptor homodimerization significantly prolongs the lifetime of ligand-induced cross-linking of CLEC-2 but not GPVI

Joanne C. Clark, Eleyna M. Martin, Alexandre Slater, Davide Calebiro et autres

The platelet immunoreceptor tyrosine-based activation motif receptors, glycoprotein VI (GPVI) and C-type lectin-like receptor 2 (CLEC-2), are activated by a diversity of ligands that bind to distinct epitopes, indicating that competitive antagonists will not block activation by all stimuli. In this study, …

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Cardiomyopathy-linked Z-disk Variants: Bridging Structural Insights to Functional Implications in Cellular Models

Maya Noureddine, Fiyaz Mohammed, Halina Mikolajek, Nathan Coweison et autres

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P14 Mechanistic insights of alpha-actinin-2 missense variant in hypertrophic cardiomyopathy

Maya Noureddine, Fiyaz Mohammed, Halina Mikolajek, Nathan Philip Cowieson et autres

Hypertrophic cardiomyopathy (HCM) is a genetic disease often associated with sudden cardiac death and linked to Z-disc genetic variants. Alpha-actinin 2 (ACTN2) is a key Z-disc protein critical for stabilising the contractile muscle apparatus. A novel missense ACTN2 variant, M228T, was identified …

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Receptor homodimerisation significantly prolongs the lifetime of ligand-induced crosslinking of CLEC-2 but not GPVI

Joanne C. Clark, Eleyna M. Martin, Alexandre Slater, Davide Calebiro et autres

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B Biophysical and functional characterisation of alpha-actinin-2 variants in hypertrophic cardiomyopathy

Maya Noureddine, Fiyaz Mohammed, Halina Mikolajek, Nathan Coweison et autres

Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by diastolic dysfunction and is frequently associated with sudden cardiac death. HCM is associated with pathogenic variants in Z-disk proteins, a key structural component of the sarcomere. Alpha-actinin 2 (ACTN2), is a crucial Z-disk …

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BS32 Biophysical and functional characterisation of alpha-actinin-2 variants in hypertrophic cardiomyopathy

Maya Noureddine, Fiyaz Mohammed, Halina Mikolajek, Nathan Coweison et autres

Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by diastolic dysfunction and is frequently associated with sudden cardiac death. HCM is associated with pathogenic variants in Z-disk proteins, a key structural component of the sarcomere. Alpha-actinin 2 (ACTN2), is a crucial Z-disk …

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