| Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy DC Pant, I Dorboz, A Schluter, S Fourcade, N Launay, J Joya, ... The Journal of clinical investigation 129 (3), 1240-1256, 2019 | 71 | 2019 |
| Ceramide signalling in inherited and multifactorial brain metabolic diseases DC Pant, S Aguilera-Albesa, A Pujol Neurobiology of disease 143, 105014, 2020 | 34 | 2020 |
| ALS‐linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain‐of‐function DC Pant, J Parameswaran, L Rao, I Loss, G Chilukuri, R Parlato, L Shi, ... EMBO reports 23 (8), e54234, 2022 | 25 | 2022 |
| Selective autophagy: the rise of the zebrafish model DC Pant, TY Nazarko Autophagy 17 (11), 3297-3305, 2021 | 14 | 2021 |
| Wheatgrass (Triticum aestivum L.) supplementation promotes longevity in Drosophila melanogaster DC Pant, M Dave, AK Tiwari Annals of plant sciences 2 (01), 49-54, 2013 | 10 | 2013 |
| Vinca rosea leaf extract supplementation leads to developmental delay and several phenotypic anomalies in Drosophila melanogaster A Kumar, M Dave, DC Pant, R Laxkar, AK Tiwari Toxicological & Environmental Chemistry 95 (4), 635-645, 2013 | 7 | 2013 |
| Antisense, but not sense, repeat expanded RNAs activate PKR/eIF2α-dependent ISR in C9ORF72 FTD/ALS J Parameswaran, N Zhang, E Braems, K Tilahun, DC Pant, K Yin, ... Elife 12, e85902, 2023 | 6 | 2023 |
| Antisense, but not sense, repeat expanded RNAs activate PKR/eIF2α-dependent integrated stress response in C9orf72 FTD/ALS J Parameswaran, N Zhang, K Tilahun, DC Pant, G Chilukuri, S Asress, ... bioRxiv, 2022.06. 06.495030, 2022 | 3 | 2022 |
| Biallelic mutations of the dihydroceramide desaturase DEGS1 gene cause a novel hypomyelinating leukodystrophy with a therapeutic hope A Pujol, D Pant, A Schluter, N Launay, S Aguilera, M Willis, L Colleaux, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 753-753, 2019 | 1 | 2019 |
| A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy I Dorboz, DC Pant, A Schluter, S Fourcade, D Rodriguez, I Desguerre, ... Neuropediatrics 50 (S 01), CO22, 2019 | | 2019 |
| Identification of the sphingolipid desaturase DEGS1 as a novel gene for a leukodystrophy with therapeutic hope DC Pant Universitat Pompeu Fabra, 2018 | | 2018 |
Aurora PujolProfessor of Genetics and Neuroscience, IDIBELL, ICREA Barcelona SpainVerified email at idibell.cat
