Lysosomes as coordinators of cellular catabolism, metabolic signalling and organ physiology
C Settembre, RM Perera - Nature Reviews Molecular Cell Biology, 2024 - nature.com
Every cell must satisfy basic requirements for nutrient sensing, utilization and recycling
through macromolecular breakdown to coordinate programmes for growth, repair and stress …
through macromolecular breakdown to coordinate programmes for growth, repair and stress …
Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease
Skeletal muscle fibers are classified into fiber types, in particular, slow twitch versus fast
twitch. Muscle fiber types are generally defined by the particular myosin heavy chain …
twitch. Muscle fiber types are generally defined by the particular myosin heavy chain …
Pompe disease: from basic science to therapy
L Kohler, R Puertollano, N Raben - Neurotherapeutics, 2018 - Springer
Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has
been known for over 75 years. While an optimist might be excited about the advances made …
been known for over 75 years. While an optimist might be excited about the advances made …
[HTML][HTML] Glycogen metabolism and glycogen storage disorders
S Kanungo, K Wells, T Tribett… - Annals of translational …, 2018 - ncbi.nlm.nih.gov
Glucose is the main energy fuel for the human brain. Maintenance of glucose homeostasis is
therefore, crucial to meet cellular energy demands in both-normal physiological states and …
therefore, crucial to meet cellular energy demands in both-normal physiological states and …
[HTML][HTML] Autophagy, lipophagy and lysosomal lipid storage disorders
Autophagy is a catabolic process with an essential function in the maintenance of cellular
and tissue homeostasis. It is primarily recognised for its role in the degradation of …
and tissue homeostasis. It is primarily recognised for its role in the degradation of …
Aerobic exercise and pharmacological treatments counteract cachexia by modulating autophagy in colon cancer
Recent studies have correlated physical activity with a better prognosis in cachectic patients,
although the underlying mechanisms are not yet understood. In order to identify the …
although the underlying mechanisms are not yet understood. In order to identify the …
Cardiomyopathies due to left ventricular noncompaction, mitochondrial and storage diseases, and inborn errors of metabolism
JA Towbin, JL Jefferies - Circulation research, 2017 - Am Heart Assoc
The normal function of the human myocardium requires the proper generation and utilization
of energy and relies on a series of complex metabolic processes to achieve this normal …
of energy and relies on a series of complex metabolic processes to achieve this normal …
[HTML][HTML] Pompe disease: pathogenesis, molecular genetics and diagnosis
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA
gene, localized on chromosome 17 and encoding for acid alpha-1, 4-glucosidase (GAA) …
gene, localized on chromosome 17 and encoding for acid alpha-1, 4-glucosidase (GAA) …
Engineered skeletal muscles for disease modeling and drug discovery
Skeletal muscle is the largest organ of human body with several important roles in everyday
movement and metabolic homeostasis. The limited ability of small animal models of muscle …
movement and metabolic homeostasis. The limited ability of small animal models of muscle …
Biochemical and clinical aspects of glycogen storage diseases
SS Ellingwood, A Cheng - Journal of Endocrinology, 2018 - joe.bioscientifica.com
The synthesis of glycogen represents a key pathway for the disposal of excess glucose
while its degradation is crucial for providing energy during exercise and times of need. The …
while its degradation is crucial for providing energy during exercise and times of need. The …