Pseudopeptidic fluorescent on-off pH sensor based on pyrene excimer emission: Imaging of acidic cellular organelles E Faggi, J Serra-Vinardell, MD Pandey, J Casas, G Fabrias, SV Luis, ... Sensors and Actuators B: Chemical 234, 633-640, 2016 | 58 | 2016 |
Chediak-Higashi syndrome: a review of the past, present, and future P Sharma, ER Nicoli, J Serra-Vinardell, M Morimoto, C Toro, ... Drug Discovery Today: Disease Models 31, 31-36, 2020 | 40 | 2020 |
Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course N Tayebi, L Parisiadou, B Berhe, AN Gonzalez, J Serra-Vinardell, ... Molecular genetics and metabolism 122 (4), 198-208, 2017 | 34 | 2017 |
Induced pluripotent stem cell models of lysosomal storage disorders DK Borger, B McMahon, T Roshan Lal, J Serra-Vinardell, E Aflaki, ... Disease models & mechanisms 10 (6), 691-704, 2017 | 30 | 2017 |
Investigation of original multivalent iminosugars as pharmacological chaperones for the treatment of Gaucher disease E Laigre, D Hazelard, J Casas, J Serra-Vinardell, H Michelakakis, ... Carbohydrate research 429, 98-104, 2016 | 30 | 2016 |
Single cell transcriptome analysis of niemann–pick disease, type c1 cerebella A Cougnoux, JC Yerger, M Fellmeth, J Serra-Vinardell, K Martin, F Navid, ... International Journal of Molecular Sciences 21 (15), 5368, 2020 | 20 | 2020 |
Expression profiling of microRNAs in human bone tissue from postmenopausal women L De-Ugarte, J Serra-Vinardell, L Nonell, S Balcells, M Arnal, X Nogues, ... Human cell 31, 33-41, 2018 | 19 | 2018 |
Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α‐1‐C‐Substituted Imino‐D‐xylitols (DIXs) by Click Chemistry J Serra‐Vinardell, L Díaz, J Casas, D Grinberg, L Vilageliu, ... ChemMedChem 9 (8), 1744-1754, 2014 | 19 | 2014 |
Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease J Serra-Vinardell, L Díaz, H Gutiérrez-de-Terán, G Sánchez-Ollé, J Bujons, ... The International Journal of Biochemistry & Cell Biology 54, 245-254, 2014 | 15 | 2014 |
Bone development and remodeling in metabolic disorders J Serra‐Vinardell, N Roca‐Ayats, L De‐Ugarte, L Vilageliu, S Balcells, ... Journal of Inherited Metabolic Disease 43 (1), 133-144, 2020 | 14 | 2020 |
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece E Dimitriou, M Moraitou, M Cozar, J Serra-Vinardell, L Vilageliu, ... Molecular Genetics and Metabolism Reports 24, 100614, 2020 | 13 | 2020 |
Stereodivergent synthesis of right-and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity F Stauffert, J Serra-Vinardell, M Gómez-Grau, H Michelakakis, I Mavridou, ... Organic & Biomolecular Chemistry 15 (17), 3681-3705, 2017 | 10 | 2017 |
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size J Serra-Vinardell, MB Sandler, R De Pace, J Manzella-Lapeira, ... Cellular and Molecular Life Sciences 80 (2), 53, 2023 | 9 | 2023 |
Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1 A Cougnoux, JC Yerger, M Fellmeth, J Serra-Vinardell, F Navid, ... Molecular genetics and metabolism 134 (4), 330-336, 2021 | 7 | 2021 |
Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines J Serra-Vinardell, MB Sandler, E Pak, W Zheng, A Dutra, W Introne, ... Stem Cell Research 47, 101883, 2020 | 6 | 2020 |
Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1 A Cougnoux, JC Yerger, M Fellmeth, J Serra-Vinardell, CA Wassif, ... Molecular genetics and metabolism 131 (3), 364-366, 2020 | 2 | 2020 |
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature M Morimoto, ER Nicoli, C Kuptanon, JC Roney, J Serra-Vinardell, ... Journal of Medical Genetics 61 (3), 212-223, 2024 | 1 | 2024 |
Correction: LYST deficiency impairs Autophagic Lysosome reformation in neurons and alters Lysosome number and size J Serra-Vinardell, MB Sandler, R De Pace, J Manzella-Lapeira, ... Cellular and Molecular Life Sciences 80 (3), 81, 2023 | 1 | 2023 |
Studying neuronal biology using spinning disc confocal microscopy J Manzella-Lapeira, J Brzostowski, J Serra-Vinardell Confocal Microscopy: Methods and Protocols, 265-283, 2021 | 1 | 2021 |
溶酶体运输调节因子在神经元自噬溶酶体重组中的作用: 从疾病角度 P Sharma, J Serra-Vinardell, WJ Introne, MCV Malicdan 中国神经再生研究 (英文版) 19 (5), 957, 2024 | | 2024 |