The rapidly evolving view of lysosomal storage diseases
Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …
several components of lysosomal function. Most commonly affected are lysosomal …
[HTML][HTML] Autophagy in the pathogenesis of disease
Autophagy is a lysosomal degradation pathway that is essential for survival, differentiation,
development, and homeostasis. Autophagy principally serves an adaptive role to protect …
development, and homeostasis. Autophagy principally serves an adaptive role to protect …
[HTML][HTML] 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] Autophagy in cardiovascular biology
S Lavandero, M Chiong… - The Journal of clinical …, 2015 - Am Soc Clin Investig
Cardiovascular disease is the leading cause of death worldwide. As such, there is great
interest in identifying novel mechanisms that govern the cardiovascular response to disease …
interest in identifying novel mechanisms that govern the cardiovascular response to disease …
[HTML][HTML] Targeting autophagy using metallic nanoparticles: A promising strategy for cancer treatment
Despite the extensive genetic and phenotypic variations present in the different tumors, they
frequently share common metabolic alterations, such as autophagy. Autophagy is a self …
frequently share common metabolic alterations, such as autophagy. Autophagy is a self …
[HTML][HTML] Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
V Roig-Zamboni, B Cobucci-Ponzano, R Iacono… - Nature …, 2017 - nature.com
Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal
acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe …
acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe …
Autophagy in lysosomal storage disorders
AP Lieberman, R Puertollano, N Raben… - Autophagy, 2012 - Taylor & Francis
Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play
crucial roles in cellular clearance. Numerous functions depend on normal lysosomes …
crucial roles in cellular clearance. Numerous functions depend on normal lysosomes …
Pompe's disease
AT van der Ploeg, AJJ Reuser - The lancet, 2008 - thelancet.com
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are
alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive …
alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive …
[HTML][HTML] The role of autophagy in skeletal muscle diseases
Q Xia, X Huang, J Huang, Y Zheng, ME March… - Frontiers in …, 2021 - frontiersin.org
Skeletal muscle is the most abundant type of tissue in human body, being involved in
diverse activities and maintaining a finely tuned metabolic balance. Autophagy …
diverse activities and maintaining a finely tuned metabolic balance. Autophagy …
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease
C Spampanato, E Feeney, L Li, M Cardone… - EMBO molecular …, 2013 - embopress.org
A recently proposed therapeutic approach for lysosomal storage disorders (LSDs) relies
upon the ability of transcription factor EB (TFEB) to stimulate autophagy and induce …
upon the ability of transcription factor EB (TFEB) to stimulate autophagy and induce …