RIPK3 as a potential therapeutic target for Gaucher's disease EB Vitner, R Salomon, T Farfel-Becker, A Meshcheriakova, M Ali, ... Nature medicine 20 (2), 204-208, 2014 | 196 | 2014 |
Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann‐Pick type C disease AR Alvarez, A Klein, J Castro, GI Cancino, J Amigo, M Mosqueira, ... The FASEB Journal 22 (10), 3617-3627, 2008 | 162 | 2008 |
Is Parkinson’s disease a lysosomal disorder? AD Klein, JR Mazzulli Brain 141 (8), 2255-2262, 2018 | 159 | 2018 |
Brain disorders due to lysosomal dysfunction A Fraldi, AD Klein, DL Medina, C Settembre Annual review of neuroscience 39, 277-295, 2016 | 154 | 2016 |
Anatomically defined neuron-based rescue of neurodegenerative Niemann–Pick type C disorder ME Lopez, AD Klein, UJ Dimbil, MP Scott Journal of Neuroscience 31 (12), 4367-4378, 2011 | 109 | 2011 |
Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann-Pick type C neurons A Klein, C Maldonado, LM Vargas, M Gonzalez, F Robledo, KP de Arce, ... Neurobiology of disease 41 (1), 209-218, 2011 | 77 | 2011 |
NPC2 is expressed in human and murine liver and secreted into bile: potential implications for body cholesterol homeostasis A Klein, L Amigo, MJ Retamal, MG Morales, JF Miquel, A Rigotti, ... Hepatology 43 (1), 126-133, 2006 | 75 | 2006 |
Delineating pathological pathways in a chemically induced mouse model of Gaucher disease A Vardi, H Zigdon, A Meshcheriakova, AD Klein, C Yaacobi, R Eilam, ... The Journal of pathology 239 (4), 496-509, 2016 | 67 | 2016 |
Identification of modifier genes in a mouse model of Gaucher disease AD Klein, NS Ferreira, S Ben-Dor, J Duan, J Hardy, TM Cox, AH Merrill, ... Cell reports 16 (10), 2546-2553, 2016 | 66 | 2016 |
Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy MB Mosbech, ASB Olsen, D Neess, O Ben‐David, LL Klitten, J Larsen, ... Annals of clinical and translational neurology 1 (2), 88-98, 2014 | 54 | 2014 |
Lysosomal vitamin E accumulation in Niemann–Pick type C disease LF Yévenes, A Klein, JF Castro, T Marín, N Leal, F Leighton, AR Alvarez, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (2), 150-160, 2012 | 53 | 2012 |
Npc1 deficiency in the C57BL/6J genetic background enhances Niemann–Pick disease type C spleen pathology J Parra, AD Klein, J Castro, MG Morales, M Mosqueira, I Valencia, ... Biochemical and biophysical research communications 413 (3), 400-406, 2011 | 52 | 2011 |
Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C ME Lopez, AD Klein, J Hong, UJ Dimbil, MP Scott Human molecular genetics 21 (13), 2946-2960, 2012 | 49 | 2012 |
Complement is dispensable for neurodegeneration in Niemann-Pick disease type C ME Lopez, AD Klein, MP Scott Journal of neuroinflammation 9, 1-8, 2012 | 46 | 2012 |
Lysosomal storage disorders: old diseases, present and future challenges AD Klein, AH Futerman Pediatr Endocrinol Rev 11 (Suppl 1), 59-63, 2013 | 42 | 2013 |
Disruption in Connexin-Based Communication Is Associated with Intracellular Ca2+ Signal Alterations in Astrocytes from Niemann-Pick Type C Mice PJ Sáez, JA Orellana, N Vega-Riveros, VA Figueroa, DE Hernández, ... PLoS One 8 (8), e71361, 2013 | 40 | 2013 |
Rare diseases in Chile: challenges and recommendations in universal health coverage context G Encina, C Castillo-Laborde, JA Lecaros, K Dubois-Camacho, ... Orphanet Journal of Rare Diseases 14, 1-8, 2019 | 32 | 2019 |
Cholinergic abnormalities, endosomal alterations and up-regulation of nerve growth factor signaling in Niemann-Pick type C disease C Cabeza, A Figueroa, OM Lazo, C Galleguillos, C Pissani, A Klein, ... Molecular neurodegeneration 7, 1-18, 2012 | 32 | 2012 |
c-Abl inhibition activates TFEB and promotes cellular clearance in a lysosomal disorder PS Contreras, PJ Tapia, L González-Hódar, I Peluso, C Soldati, ... Iscience 23 (11), 2020 | 30 | 2020 |
The unique case of the Niemann-Pick type C cholesterol storage disorder AD Klein, A Alvarez, S Zanlungo Pediatr. Endocrinol. Rev 12, 166-175, 2014 | 26 | 2014 |