The use of pharmacological chaperones in rare diseases caused by reduced protein stability
Sign Up to like & getrecommendations! Published in 2022 at "PROTEOMICS"
DOI: 10.1002/pmic.202200222
Abstract: Rare diseases are most often caused by inherited genetic disorders that, after translation, will result in a protein with altered function. Decreased protein stability is the most frequent mechanism associated with a congenital pathogenic missense… read more here.
Keywords: use pharmacological; pharmacological chaperones; protein stability; stability ... See more keywords
Pharmacological Chaperones: Beyond Conformational Disorders.
Sign Up to like & getrecommendations! Published in 2018 at "Handbook of experimental pharmacology"
DOI: 10.1007/164_2017_68
Abstract: Pharmacological chaperones (PCs) are small molecules that bind to nascent protein targets to facilitate their biogenesis. The ability of PCs to assist in the folding and subsequent forward trafficking of disease-causative protein misfolding mutants has… read more here.
Keywords: conformational disorders; chaperones beyond; disorders pharmacological; beyond conformational ... See more keywords
Screening methods for identifying pharmacological chaperones.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular bioSystems"
DOI: 10.1039/c6mb00866f
Abstract: Protein folding is crucial for most proteins to achieve their correct three-dimensional conformations and function properly. Defects in protein folding frequently caused by mutations lead to a range of protein misfolding diseases, including Alzheimer's disease,… read more here.
Keywords: protein misfolding; screening methods; methods identifying; misfolding diseases ... See more keywords
Tuning protein folding in lysosomal storage diseases: the chemistry behind pharmacological chaperones
Sign Up to like & getrecommendations! Published in 2018 at "Chemical Science"
DOI: 10.1039/c7sc04712f
Abstract: We review pharmacological chaperones used in lysosomal storage diseases, emphasizing medicinal chemistry approaches and mechanisms of action. read more here.
Keywords: lysosomal storage; tuning protein; chemistry; storage diseases ... See more keywords
Computational methods to assist in the discovery of pharmacological chaperones for rare diseases
Sign Up to like & getrecommendations! Published in 2022 at "Briefings in bioinformatics"
DOI: 10.1093/bib/bbac198
Abstract: Pharmacological chaperones are chemical compounds able to bind proteins and stabilize them against denaturation and following degradation. Some pharmacological chaperones have been approved, or are under investigation, for the treatment of rare inborn errors of… read more here.
Keywords: discovery pharmacological; assist discovery; pharmacological chaperones; computational methods ... See more keywords
Structure-Activity Relationships of Dopamine Transporter Pharmacological Chaperones
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2022.832536
Abstract: Mutations in the dopamine transporter gene (SLC6A3) have been implicated in many human diseases. Among these is the infantile parkinsonism-dystonia known as Dopamine Transporter Deficiency Syndrome (DTDS). Afflicted individuals have minimal to no functional dopamine… read more here.
Keywords: dopamine transporter; structure activity; pharmacological chaperones;
Pharmacological Chaperones and Protein Conformational Diseases: Approaches of Computational Structural Biology
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24065819
Abstract: Whenever a protein fails to fold into its native structure, a profound detrimental effect is likely to occur, and a disease is often developed. Protein conformational disorders arise when proteins adopt abnormal conformations due to… read more here.
Keywords: conformational diseases; structural biology; pharmacological chaperones; computational structural ... See more keywords