Results 61 to 70 of about 3,656,183 (130)

Tuning protein folding in lysosomal storage diseases: the chemistry behind pharmacological chaperones

, 2018
We review pharmacological chaperones used in lysosomal storage diseases, emphasizing medicinal chemistry approaches and mechanisms of action.
Patrícia Valentão, David M. Pereira, Paula B. Andrade   +2 more
core   +1 more source

Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases [PDF]

, 2019
Perturbations in mitochondrial function and homeostasis are pervasive in lysosomal storage diseases, but the underlying mechanisms remain unknown. Here, we report a transcriptional program that represses mitochondrial biogenesis and function in lysosomal
Fernandez-Mosquera, Lorena, Ikonen, Elina, Milosevic, Ira, Yambire, King Faisal, Raimundo, Nuno, Steinfeld, Robert, Muehle, Christiane, Mühle, Christiane, Lorena Fernandez-Mosquera, Fernandez-Mosquera, Lorena; https://orcid.org/, Nuno Raimundo, King Faisal Yambire, Christiane Mühle, Mühle, Christiane; https://orcid.org/, Elina Ikonen, Milosevic, Ira; https://orcid.org/, Ira Milosevic, Robert Steinfeld, Yambire, King Faisal; https://orcid.org/, Raimundo, Nuno; https://orcid.org/   +19 more
core   +1 more source

Lysosomal storage diseases and the blood-brain barrier

, 2008
The blood-brain barrier becomes a crucial issue in neuronopathic lysosomal storage diseases for three reasons. Firstly, the function of the blood-brain barrier may be compromised in many of the lysosomal storage diseases and this barrier dysfunction may ...
Scarpa, M, Pontikis, C C, Begley, D J
core   +3 more sources

Oligonucleotide-based therapies for inherited metabolic diseases: some examples of their application in Lysosomal Storage Disorders

, 2021
Invited speakerAbout oligonucleotide-based therapies for inherited metabolic diseases: some examples of their application in Lysosomal Storage Disorders.N/
Alves, Sandra
core  

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Biomolecules, 2020
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen ...
Naresh K. Meena, Nina Raben
doaj   +1 more source

Lysosomal Storage Diseases: an overview

, 2018
Lysosomal storage diseases (LSDs)are an heterogenous group rare inherited metabolic diseases caused by mutations mutations in proteins critical critical for lysosomal function.FCT PTDC/BIM-MEC/4762/2014N/
Alves, Sandra
core  

Recent advances in gene therapy for lysosomal storage disorders [PDF]

, 2015
David PW Rastall,1 Andrea Amalfitano1,2 1Department of Microbiology and Molecular Genetics, 2Department of Pediatrics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA Abstract: Lysosomal storage disorders (LSDs) are a ...
Amalfitano A, Rastall DP
core  

Cardiac involvement in Lysosomal Storage Diseases

, 2020
Lysosomal storage diseases (LSDs) include a heterogeneous group of rare, inborn, metabolic diseases characterized by deficiency of lysosomal enzymes or of other proteins involved in lysosomal function, leading to multi organ system substrates ...
Concolino D., Sestito S., Parisi F., Tarsitano F., Calabro M. P., Chimenz R., Pensabene L., Tallarico V., Roppa K., Ceravolo G., Moricca M. T., De Sarro R., Bonapace G.   +12 more
core  

Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases

, 2017
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare inherited metabolic diseases that are frequently triggered by the accumulation of lipids inside organelles of the endosomal-autophagic-lysosomal system (EALS).
James C. Dodge
core   +1 more source

The endoplasmic reticulum, not the pH gradient, drives calcium refilling of lysosomes

eLife, 2016
Impaired homeostasis of lysosomal Ca2+ causes lysosome dysfunction and lysosomal storage diseases (LSDs), but the mechanisms by which lysosomes acquire and refill Ca2+ are not known.
Abigail G Garrity, Wuyang Wang, Crystal MD Collier, Sara A Levey, Qiong Gao, Haoxing Xu   +5 more
doaj   +1 more source