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Jenny Serra-Vinardell
Jenny Serra-Vinardell
NHGRI, NIH
Verified email at nih.gov
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Cited by
Year
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
582016
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
402020
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
342017
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
302017
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
302016
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
202020
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
192018
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
192014
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
152014
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
142020
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
132020
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
102017
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
92023
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
72021
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
62020
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
22020
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
12024
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
12023
Studying neuronal biology using spinning disc confocal microscopy
J Manzella-Lapeira, J Brzostowski, J Serra-Vinardell
Confocal Microscopy: Methods and Protocols, 265-283, 2021
12021
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
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