E-LIB Suche - Ergebnisse für: Museer A. Lone

1

CERT1 mutations perturb human development by disrupting sph..:

Gehin, Charlotte ; Lone, Museer A. ; Lee, Winston...
Journal of Clinical Investigation. 133 (2023) 10 - p. , 2023

Link: https://doi.org/10.1172/..

2

Editorial: Genetic disorders and rare diseases: in vitro mo..:

Hassan, Shabir ; Lone, Museer A.
Frontiers in Pharmacology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

Recurrent de novoSPTLC2variant causes childhood-onset amyot..:

Syeda, Safoora B ; Lone, Museer A ; Mohassel, Payam...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 2 - p. 103-113 , 2023

Link: https://doi.org/10.1136/..

4

SPTLC1 p.Leu38Arg, a novel mutation associated with childho..:

Lone, Museer A. ; Zeng, Sen ; Bourquin, Florence...
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1868 (2023) 9 - p. 159359 , 2023

Link: https://doi.org/10.1016/..

5

SPTLC1 variants associated with ALS produce distinct sphing..:

Lone, Museer A. ; Aaltonen, Mari J. ; Zidell, Aliza...
Journal of Clinical Investigation. 132 (2022) 18 - p. , 2022

Link: https://doi.org/10.1172/..

6

Serine Palmitoyltransferase Subunit 3 and Metabolic Disease:

, In: Sphingolipid Metabolism and Metabolic Disease; Advances in Experimental Medicine and Biology,

Lone, Museer A. ; Bourquin, Florence ; Hornemann, Thorsten - p. 47-56 , 2022

Link: https://doi.org/10.1007/..

7

An iPSC model of hereditary sensory neuropathy-1 reveals L-..:

Clark, Alex J. ; Kugathasan, Umaiyal ; Baskozos, Georgios...
Cell Reports Medicine. 2 (2021) 7 - p. 100345 , 2021

Link: https://doi.org/10.1016/..

8

Precision mouse models ofYars/dominant intermediate Charcot..:

Hines, Timothy J. ; Tadenev, Abigail L. D. ; Lone, Museer A....
Journal of Anatomy. 241 (2021) 5 - p. 1169-1185 , 2021

Link: https://doi.org/10.1111/..

9

Metabolism of HSAN1- and T2DM-associated 1-deoxy-sphingolip..:

Karsai, Gergely ; Steiner, Regula ; Kaech, Andres...
Journal of Lipid Research. 62 (2021) - p. 100122 , 2021

Link: https://doi.org/10.1016/..

10

Childhood amyotrophic lateral sclerosis caused by excess sp..:

Mohassel, Payam ; Donkervoort, Sandra ; Lone, Museer A....
Nature Medicine. 27 (2021) 7 - p. 1197-1204 , 2021

Link: https://doi.org/10.1038/..

11

Subunit composition of the mammalian serine-palmitoyltransf..:

Lone, Museer A. ; Hülsmeier, Andreas J. ; Saied, Essa M....
Proceedings of the National Academy of Sciences. 117 (2020) 27 - p. 15591-15598 , 2020

Link: https://doi.org/10.1073/..

12

FADS3 is a Δ14Z sphingoid base desaturase that contributes ..:

Karsai, Gergely ; Lone, Museer ; Kutalik, Zoltán...
Journal of Biological Chemistry. 295 (2020) 7 - p. 1889-1897 , 2020

Link: https://doi.org/10.1074/..

13

Farnesoid X receptor activation induces the degradation of ..:

Gai, Zhibo ; Gui, Ting ; Alecu, Irina...
Liver International. 40 (2020) 4 - p. 844-859 , 2020

Link: https://doi.org/10.1111/..

14

Subunit composition of the mammalian serine-palmitoyltransf..:

Lone, Museer A. ; Hülsmeier, Andreas J. ; Saied, Essa M....
Proceedings of the National Academy of Sciences of the United States of America. 117 (2020) 27 - p. 15591-15598 , 2020

Link: https://www.jstor.org/st..

15

An alternatively spliced, non-signaling insulin receptor mo..:

Martinez, Bryan A ; Reis Rodrigues, Pedro ; Nuñez Medina, Ricardo M...
eLife. 9 (2020) - p. , 2020

Link: https://doi.org/10.7554/..