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- 2024
-
Mark
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria
Gurung, Sonam ; Timmermand, Oskar Vilhelmsson LU
; Perocheau, Dany
; Gil-Martinez, Ana Luisa
; Minnion, Magdalena
; Touramanidou, Loukia
; Fang, Sherry
; Messina, Martina
; Khalil, Youssef
and Spiewak, Justyna
, et al.
(2024)
In Science Translational Medicine
16(729).
- Contribution to journal › Article
-
Mark
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1
Gustavsson, Emil K. ; Sethi, Siddharth ; Gao, Yujing ; Brenton, Jonathan W. ; García-Ruiz, Sonia ; Zhang, David ; Garza, Raquel LU
; Reynolds, Regina H.
; Evans, James R.
and Chen, Zhongbo
, et al.
(2024)
In Science Advances
10(26).
- Contribution to journal › Article
- 2020
-
Mark
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
(2020) In Neuron
- Contribution to journal › Article