Ay Lin Kho
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View article: Mutations in the Key Autophagy Tethering Factor <scp>EPG5</scp> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Mutations in the Key Autophagy Tethering Factor <span>EPG5</span> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism Open
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating v…
View article: A comprehensive framework for the interpretation of TTN missense variants
A comprehensive framework for the interpretation of TTN missense variants Open
Background: Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain architecture of the titin protein. While the …
View article: The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes
The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes Open
Protein homeostasis is crucial for maintaining cardiomyocyte (CM) function. Disruption of proteostasis results in accumulation of protein aggregates causing cardiac pathologies such as hypertrophy, dilated cardiomyopathy (DCM), and heart f…
View article: Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders Open
Autophagy is a fundamental and evolutionary conserved biological pathway with vital roles in intracellular quality control and homeostasis. The process of autophagy involves the engulfment of intracellular targets by autophagosomes and the…
View article: Missense mutations in the central domains of cardiac myosin binding protein-C and their potential contribution to hypertrophic cardiomyopathy
Missense mutations in the central domains of cardiac myosin binding protein-C and their potential contribution to hypertrophic cardiomyopathy Open
Myosin binding protein-C (MyBP-C) is a multidomain protein that regulates muscle contraction. Mutations in MYBPC3, the gene encoding for the cardiac variant (henceforth called cMyBP-C), are amongst the most frequent causes of hypertrophic …
View article: Structure of the native myosin filament in the relaxed cardiac sarcomere
Structure of the native myosin filament in the relaxed cardiac sarcomere Open
View article: Obscurin Rho GEF domains are phosphorylated by MST-family kinases but do not exhibit nucleotide exchange factor activity towards Rho GTPases in vitro
Obscurin Rho GEF domains are phosphorylated by MST-family kinases but do not exhibit nucleotide exchange factor activity towards Rho GTPases in vitro Open
Obscurin is a giant muscle protein (>800 kDa) featuring multiple signalling domains, including an SH3-DH-PH domain triplet from the Trio-subfamily of guanosine nucleotide exchange factors (GEFs). While previous research suggests that these…
View article: In situ structures from relaxed cardiac myofibrils reveal the organization of the muscle thick filament
In situ structures from relaxed cardiac myofibrils reveal the organization of the muscle thick filament Open
The thick filament is a key component of sarcomeres, the basic force-generating and load-bearing unit of striated muscle 1 . Mutations in thick filament proteins are associated with familial hypertrophic cardiomyopathy and other heart and …
View article: Obscurin Rho GEF domains are phosphorylated by MST-family kinases but do not exhibit nucleotide exchange factor activity towards Rho GTPases<i>in vitro</i>
Obscurin Rho GEF domains are phosphorylated by MST-family kinases but do not exhibit nucleotide exchange factor activity towards Rho GTPases<i>in vitro</i> Open
Obscurin is a giant muscle protein (>800 kDa) featuring multiple signalling domains, including an SH3-DH-PH domain triplet from the Trio-subfamily of guanosine nucleotide exchange factors (GEFs). While previous research suggests that these…
View article: Structures from intact myofibrils reveal mechanism of thin filament regulation through nebulin
Structures from intact myofibrils reveal mechanism of thin filament regulation through nebulin Open
In skeletal muscle, nebulin stabilizes and regulates the length of thin filaments, but the underlying mechanism remains nebulous. In this work, we used cryo–electron tomography and subtomogram averaging to reveal structures of native nebul…
View article: Structure of the thin filament in native skeletal muscles reveals its interaction with nebulin and two distinct conformations of myosin
Structure of the thin filament in native skeletal muscles reveals its interaction with nebulin and two distinct conformations of myosin Open
Nebulin is a major structural protein of skeletal sarcomeres and is essential for proper assembly and contraction of skeletal muscle 1 . It stabilises and regulates the length of thin filaments, 2 but the structural mechanism remains nebul…
View article: The molecular basis for sarcomere organization in vertebrate skeletal muscle
The molecular basis for sarcomere organization in vertebrate skeletal muscle Open
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View article: Molecular noise filtering in the β-adrenergic signaling network by phospholamban pentamers
Molecular noise filtering in the β-adrenergic signaling network by phospholamban pentamers Open
View article: The molecular basis for sarcomere organization in vertebrate skeletal muscle
The molecular basis for sarcomere organization in vertebrate skeletal muscle Open
View article: Making sense of missense variants in TTN-related congenital myopathies
Making sense of missense variants in TTN-related congenital myopathies Open
View article: Molecular plasticity of the native mouse skeletal sarcomere revealed by cryo-ET
Molecular plasticity of the native mouse skeletal sarcomere revealed by cryo-ET Open
Sarcomeres are the force-generating and load-bearing devices of muscles. A precise molecular understanding of how the entire sarcomere is built is required to understand its role in health, disease and ageing. Here, we determine the in sit…
View article: The Cardiac Stress Response Factor Ms1 Can Bind to DNA and Has a Function in the Nucleus
The Cardiac Stress Response Factor Ms1 Can Bind to DNA and Has a Function in the Nucleus Open
Ms1 (also known as STARS and ABRA) has been shown to act as an early stress response gene in processes as different as hypertrophy in skeletal and cardiac muscle and growth of collateral blood vessels. It is important for cardiac developme…