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 …

[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 …

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 …

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 …

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

FM Platt, B Boland, AC van der Spoel - Journal of Cell Biology, 2012 - rupress.org
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 …

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 …

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) …

Early steps in steroidogenesis: intracellular cholesterol trafficking: thematic review series: genetics of human lipid diseases

WL Miller, HS Bose - Journal of lipid research, 2011 - ASBMB
Steroid hormones are made from cholesterol, primarily derived from lipoproteins that enter
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 …

Sugar-mimic glycosidase inhibitors: natural occurrence, biological activity and prospects for therapeutic application

N Asano, RJ Nash, RJ Molyneux, GWJ Fleet - Tetrahedron: Asymmetry, 2000 - Elsevier
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 …