Results 161 to 170 of about 16,701 (225)

Discovery of Autophagy Modulators that Increase I1061T NPC1 Expression and Promote Cholesterol Efflux in Niemann-Pick Type C Patient-Derived Fibroblasts. [PDF]

ACS Chem Biol
Salkovski M, Arrieche Suarez A, Gao Q, Hippman RS, Petros ZA, Korkmaz-Vaisys MA, Gerlach EM, Alvarado-Cartagena YM, Nguyen TTA, Pavlinov I, Ilnytska O, Storch J, Cologna SM, Aldrich LN.   +13 more
europepmc   +1 more source

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of <i>Drosophila melanogaster</i> During Aging. [PDF]

Cells
Markaki SP, Kiose NM, Charitopoulou ZA, Kougioumtzoglou S, Velentzas AD, Stravopodis DJ.   +5 more
europepmc   +1 more source

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. [PDF]

Orphanet J Rare Dis
Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Datar C, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Prabha CR, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia-Mahay S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Kabra M, Jalan A, Solanki D, Dalal A, Sheth F, Sheth H.   +37 more
europepmc   +1 more source

Cholesterol Depletion with U18666A and Methyl-β Cyclodextrin Increased Small Molecule Permeability Across Brain Microvascular Endothelial Cells. [PDF]

Ann Biomed Eng
Moiz B, Vargas VA, Brandon KD, Sangha G, Weber C, Li A, Pepper T, Walls M, Qin A, Hart S, Davidson C, Stroka K, Porter FD, Clyne AM.   +13 more
europepmc   +1 more source

Editorial: Advancements in prenatal diagnosis: from noninvasive prenatal tests to novel fetal imaging. [PDF]

Front Med (Lausanne)
Cohen SM, Chen M, Sun L.
europepmc   +1 more source

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker [PDF]

, 2014
Al Eisa, Nada, Cousins, Alison, et al.,, Hartung, Ralf, Hendriksz, Christian J, Jiang, Xuntian, Lachmann, Robin H, Mengel, Eugen, Ory, Daniel S, Sidhu, Rohini, Simmons, Louise, Smith, David A, Speak, Anneliese O, te Vruchte, Danielle, Wallom, Kerri L   +14 more
core   +1 more source

A tool of the trade for a newly identified filovirus: pseudovirus-based system for Dehong virus entry and neutralization. [PDF]

Microbiol Spectr
Biswas B.
europepmc   +1 more source

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study [PDF]

core   +1 more source

Mechanistic Basis of Cholesterol Binding and Transfer in NPC2: Insights From Molecular Dynamics Simulations. [PDF]

Chembiochem
Patel S, Elghobashi-Meinhardt N.
europepmc   +1 more source

Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment. [PDF]

J Inherit Metab Dis
Casazza K, Cologna SM, Berry-Kravis E, Jarnes J, Porter FD.   +4 more
europepmc   +1 more source