Lysosomal storage diseases
FM Platt, A d'Azzo, BL Davidson, EF Neufeld… - Nature reviews Disease …, 2018 - nature.com
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …
[HTML][HTML] Carbohydrate-based drugs launched during 2000− 2021
X Cao, X Du, H Jiao, Q An, R Chen, P Fang… - … Pharmaceutica Sinica B, 2022 - Elsevier
Carbohydrates are fundamental molecules involved in nearly all aspects of lives, such as
being involved in formating the genetic and energy materials, supporting the structure of …
being involved in formating the genetic and energy materials, supporting the structure of …
Routes and mechanisms of extracellular vesicle uptake
LA Mulcahy, RC Pink, DRF Carter - Journal of extracellular …, 2014 - Taylor & Francis
Extracellular vesicles (EVs) are small vesicles released by donor cells that can be taken up
by recipient cells. Despite their discovery decades ago, it has only recently become …
by recipient cells. Despite their discovery decades ago, it has only recently become …
How were new medicines discovered?
DC Swinney, J Anthony - Nature reviews Drug discovery, 2011 - nature.com
Preclinical strategies that are used to identify potential drug candidates include target-based
screening, phenotypic screening, modification of natural substances and biologic-based …
screening, phenotypic screening, modification of natural substances and biologic-based …
Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
Lysosomal storage diseases (LSDs) are a family of disorders that result from inherited gene
mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in …
mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in …
Glycobiology: toward understanding the function of sugars
RA Dwek - Chemical reviews, 1996 - ACS Publications
Glycobiology: Toward Understanding the Function of Sugars | Chemical Reviews ACS ACS
Publications C&EN CAS Find my institution Log In Chemical Reviews ACS Publications …
Publications C&EN CAS Find my institution Log In Chemical Reviews ACS Publications …
Recommendations for the diagnosis and management of Niemann–Pick disease type C: an update
MC Patterson, CJ Hendriksz, M Walterfang… - Molecular genetics and …, 2012 - Elsevier
Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …
Early steps in steroidogenesis: intracellular cholesterol trafficking: thematic review series: genetics of human lipid diseases
Steroid hormones are made from cholesterol, primarily derived from lipoproteins that enter
cells via receptor-mediated endocytosis. In endo-lysosomes, cholesterol is released from …
cells via receptor-mediated endocytosis. In endo-lysosomes, cholesterol is released from …
Miglustat in Niemann-Pick disease type C patients: a review
M Pineda, M Walterfang, MC Patterson - Orphanet journal of rare diseases, 2018 - Springer
Abstract Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive,
neurodegenerative disease associated with a wide variety of progressive neurological …
neurodegenerative disease associated with a wide variety of progressive neurological …
Sugar-mimic glycosidase inhibitors: natural occurrence, biological activity and prospects for therapeutic application
Alkaloids mimicking the structures of monosaccharides are now believed to be widespread
in plants and microorganisms, and these sugar mimics inhibit glycosidases because of a …
in plants and microorganisms, and these sugar mimics inhibit glycosidases because of a …