Results 131 to 140 of about 58,222 (243)

Unsheathing new insights into lysosomal storage disorders

, 2023
Kirsty M. Hooper
openalex   +1 more source

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders [PDF]

Elena Urizar, Éamon P McCarron, Chaitanya Gadepalli, Andrew Bentley, Peter Woolfson, Siying Lin, Christos Iosifidis, Andrew C. Browning, John Bassett, Udara D. Senarathne, Neluwa-Liyanage R. Indika, Heather J. Church, James A. Cooper, Jorge Menendez Lorenzo, Maria Elena Farrugia, Simon A. Jones, Graeme C. Black, Karolina M. Stępień   +17 more
openalex   +1 more source

mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy [PDF]

, 2017
Rosa Bartolomeo, Laura Cinque, Chiara De Leonibus, Alison Forrester, Anna Chiara Salzano, Jlenia Monfregola, Emanuela De Gennaro, Edoardo Nusco, Isabella Azario, Carmela Lanzara, Marta Serafini, Beth Levine, Andrea Ballabio, Carmine Settembre   +13 more
openalex   +1 more source

A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder

Nature Communications, 2014
Lisa B. Frankel, Chiara Di Malta, Jiayu Wen, E. Eskelinen, A. Ballabio, A. Lund   +5 more
semanticscholar   +1 more source

Correction to Xing M, Parker EI, Moreno-De-Luca A, Harmouche E, Terk MR. Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.Br J Radiol2014;87: 20120467

, 2014

openalex   +2 more sources

Drug-like screening, molecular docking, molecular dynamics simulations, and binding free energies on the interaction of pyrazole derivatives as inhibitors of lysosomal storage disorders and anticancer activity [PDF]

Emmanuel Israel Edache, Adebiyi Adedayo, Hadiza Adamu Dawi, Fabian Audu Ugbe   +3 more
openalex   +1 more source

Autophagic dysfunction in a lysosomal storage disorder due to impaired proteolysis

Autophagy, 2013
Matthew J. Elrick, A. Lieberman
semanticscholar   +1 more source

Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families

Journal of Genetic Counseling, 2013
R. Freedman, M. Sahhar, L. Curnow, J. Lee, Heidi Peters   +4 more
semanticscholar   +1 more source

D-30 BIOMARKERS FOR LYSOSOMAL STORAGE DISORDERS: CLINICAL APPROACH

, 2018
Sema Kalkan Uçar
openalex   +1 more source

Lysosomal storage disorders

, 2019
Daniel Bell, Sepehr Haghighi, Tristan Skalina   +2 more
openaire   +2 more sources