E-LIB Suche - Ergebnisse für: Mohsen, Al-Walid

1

A multiomics approach reveals evidence for phenylbutyrate a..:

Phua, Yu Leng ; D'Annibale, Olivia M. ; Karunanidhi, Anuradha...
Molecular Genetics and Metabolism. 142 (2024) 3 - p. 108495 , 2024

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

2

Mitochondrial bioenergetics and cardiolipin remodeling abno..:

Vieira Neto, Eduardo ; Wang, Meicheng ; Szuminsky, Austin J....
JCI Insight. , 2024

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

3

Structure and functional studies of TANGO2 protein:

Gonzalez, Lina Ghaloul ; Powers, Alyssa ; Vockley, Jerry.
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108188 , 2024

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

4

Medium-chain acyl-CoA dehydrogenase substrate binding site:..:

Mohsen, Al-Walid ; Karunanidhi, Anuradha ; Vockley, Jerry
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108316 , 2024

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

5

Novel insights into the pathophysiology of TANGO2 deficienc..:

Kashiparekh, Anokhi ; Mohsen, Al-Walid ; Vockley, Jerry.
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108330 , 2024

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

6

O17: Characterizing pathogenicity of ACADVL variants in ver..:

Sethuraman, Meena ; Koppes, Erik ; Scola, Kaitlyn...
Genetics in Medicine Open. 2 (2024) - p. 100873 , 2024

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

7

ACADVL−/−/ACADL−/− mice demonstrate symptoms of very long c..:

Vockley, Jerry ; Zhao, Xue-Jun ; Seminotti, Bianca...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108323 , 2024

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

8

EFFECT OF TRIHEPTANOIN AND MEDIUM BRANCHED-CHAIN FATTY ACID..:

Karunanidhi, Anuradha ; Basu, Shakuntala ; Zhao, Xuejun...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107436 , 2023

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

9

Heptanoic and medium branched-chain fatty acids as anaplero..:

Karunanidhi, Anuradha ; Basu, Shakuntala ; Zhao, Xue-Jun...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107689 , 2023

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

10

ANAPLEROTIC COMPOUNDS IMPROVE O CONSUMPTION AND RESTORE SUC..:

Seminotti, Bianca ; Karunanidhi, Anuradha ; Vockley, Jerry.
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107481 , 2023

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

11

Messenger RNA rescues medium-chain acyl-CoA dehydrogenase d..:

Zhao, Xue-Jun ; Mohsen, Al-Walid ; Mihalik, Stephanie...
Human Molecular Genetics. 32 (2023) 14 - p. 2347-2356 , 2023

Link: https://doi.org/10.1093/..

12

A VLCAD/LCAD MUSCLE DOUBLE KNOCK OUT MOUSE MODEL:

Basu, Shakuntala ; Seminotti, Bianca ; Zhao, Xuejun...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107391 , 2023

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

13

OP003: Characterization of variants of uncertain significan..:

D'Annibale, Olivia ; Sethuraman, Meena ; Koppes, Erik..
Genetics in Medicine. 24 (2022) 3 - p. S334-S335 , 2022

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

14

CHARACTERIZATION OF VARIANTS OF UNCERTAIN SIGNIFICANCE IN V..:

Dannibale, Olivia ; Sethuraman, Meena ; Koppes, Erik..
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 253-254 , 2022

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

15

Mitochondrial dysfunction associated with TANGO2 deficiency:

Heiman, Paige ; Mohsen, Al-Walid ; Karunanidhi, Anuradha...
Scientific Reports. 12 (2022) 1 - p. , 2022

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